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
LPA	4018	broad.mit.edu	37	6	160999693	160999693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:160999693G>A	uc003qtl.3	-	27	4453	c.4333C>T	c.(4333-4335)Cgc>Tgc	p.R1445C		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3953	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACCAAGGGCGAATCTCAGCA	0.502000														7			15		0	0	0.004007	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998066	27998066	+	Silent	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:27998066G>T	uc004dbx.1	-	0	1501	c.1386C>A	c.(1384-1386)gtC>gtA	p.V462V		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	462										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCAGAAGAAGACGTGCCCAC	0.468000														6			10		0.000442599	0.000641218	0.006214	1	0
OR4C15	81309	broad.mit.edu	37	11	55322224	55322224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55322224G>A	uc010rig.2	+	0	442	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CATCTCTTTTGAAGGCTGCAT	0.483000										HNSCC(20;0.049)				48			12		0	0	0.002450	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782229	62782229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:62782229C>T	uc009yon.3	-	1	323	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Missense_Mutation_p.G68R|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Missense_Mutation_p.G68R	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	68					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.G68E(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCAGGCTTCCCATTTGGGCCC	0.632000														467			443		0	0	0.003610	0	0
IER5	51278	broad.mit.edu	37	1	181058213	181058213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:181058213G>A	uc001got.4	+	0	576	c.175G>A	c.(175-177)Ggt>Agt	p.G59S		NM_016545	NP_057629	Q5VY09	IER5_HUMAN	Homo sapiens immediate early response 5 (IER5), mRNA.	59										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CTACCTGGCCGGTCCCGCTGG	0.776000														66			36		0	0	0.003271	0	0
PRDM9	56979	broad.mit.edu	37	5	23527858	23527858	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:23527858C>T	uc003jgo.3	+	10	2843	c.2661C>T	c.(2659-2661)ccC>ccT	p.P887P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	887					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCCCTACGTCTGCA	0.522000										HNSCC(3;0.000094)				9			16		0	0	0.004007	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203256	1203256	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1203256C>T	uc001adp.3	-	1	306	c.117G>A	c.(115-117)tcG>tcA	p.S39S	UBE2J2_uc001adm.3_5'UTR|UBE2J2_uc001ado.3_Silent_p.S39S|UBE2J2_uc001adq.3_5'UTR|UBE2J2_uc001adr.3_Intron	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	39					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.S39S(2)|p.P38H(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CGAGAATATTCGAAGGGAGGG	0.637000														520			428		0	0	0.003610	0	0
TANC2	26115	broad.mit.edu	37	17	61428720	61428720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61428720G>A	uc002jal.4	+	10	1718	c.1695G>A	c.(1693-1695)atG>atA	p.M565I	TANC2_uc010wpe.2_Missense_Mutation_p.M475I	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	565							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGAGTAAAATGATCGGAAAGT	0.343000														73			48		0	0	0.003610	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883016	4883016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:4883016G>A	uc010cku.2	-	8	2082	c.1670C>T	c.(1669-1671)aCc>aTc	p.T557I	CAMTA2_uc002gag.2_Missense_Mutation_p.T533I|CAMTA2_uc002gah.2_Missense_Mutation_p.T534I|CAMTA2_uc002gai.2_Missense_Mutation_p.T536I|CAMTA2_uc010ckv.1_Missense_Mutation_p.T181I|CAMTA2_uc010vsu.2_Missense_Mutation_p.T347I	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	534	IPT/TIG.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTCTGTGATGGTGCTAAGAGC	0.532000														242			374		0	0	0.003610	0	0
GJD4	219770	broad.mit.edu	37	10	35896618	35896618	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:35896618G>A	uc001iyy.1	+	1	335	c.177G>A	c.(175-177)ccG>ccA	p.P59P		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	Homo sapiens gap junction protein, delta 4, 40.1kDa (GJD4), mRNA.	59					cell communication	connexon complex|integral to membrane		p.Q58Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGCTGCAGCCGGGATGCGCCA	0.627000														548			263		0	0	0.003610	0	0
POU6F2	11281	broad.mit.edu	37	7	39472682	39472682	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:39472682G>T	uc003thb.2	+	7	1176	c.1033G>T	c.(1033-1035)Ggg>Tgg	p.G345W	POU6F2_uc022acb.1_Missense_Mutation_p.G345W	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	345	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I344I(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAGATTATCGGGACCATTCC	0.572000														84			6		0.00198382	0.00286994	0.001984	1	0
LMTK2	22853	broad.mit.edu	37	7	97821333	97821334	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:97821333_97821334CC>TT	uc003upd.2	+	10	1849_1850	c.1556_1557CC>TT	c.(1555-1557)ccc>cTT	p.P519L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	519					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GATCCTGGGCCCGGAAAGCAAG	0.540000														292			156		0	0	0.004672	0	0
SLC30A4	7782	broad.mit.edu	37	15	45781175	45781175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:45781175G>A	uc001zvj.3	-	4	1070	c.758C>T	c.(757-759)tCc>tTc	p.S253F		NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	253					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TCTGGTAGGGGAATTTGAAGG	0.453000														58			28		0	0	0.007291	0	0
SPERT	220082	broad.mit.edu	37	13	46276945	46276945	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:46276945C>T	uc001van.1	+	1	191	c.111C>T	c.(109-111)acC>acT	p.T37T	SPERT_uc001vao.2_5'Flank	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	37						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)		AAAGAGATACCAGATCTGAAA	0.443000														115			75		0	0	0.003610	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:14976G>A	uc009vis.3	-	2		c.369C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CTACCCTTGCGCCTCATGACC	0.582000														103			15		0	0	0.001882	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627001	43627001	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:43627001C>T	uc011lrb.2	-	3	1715	c.1686G>A	c.(1684-1686)caG>caA	p.Q562Q		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	562						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TAAAGACGTCCTGAGATTTTT	0.488000														133			303		0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108182072	108182072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:108182072C>T	uc003dxa.1	-	16	1867	c.1810G>A	c.(1810-1812)Ggt>Agt	p.G604S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	604	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCAGCCAACCACTGATATTA	0.378000														57			19		0	0	0.010504	0	0
NBEA	26960	broad.mit.edu	37	13	36239231	36239231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:36239231C>T	uc021rid.1	+	54	8843	c.8309C>T	c.(8308-8310)cCg>cTg	p.P2770L	NBEA_uc021ric.1_Missense_Mutation_p.P2767L|NBEA_uc010abi.3_Missense_Mutation_p.P1428L|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.P563L|NBEA_uc001uvd.3_Missense_Mutation_p.P348L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2770						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGTGACTATCCGGCACCAAGA	0.488000														25			18		0	0	0.004990	0	0
OR2W1	26692	broad.mit.edu	37	6	29012512	29012512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:29012512C>T	uc003nlw.2	-	0	441	c.441G>A	c.(439-441)atG>atA	p.M147I	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TACTCCAGATCATGATAATCA	0.373000														122			74		0	0	0.003610	0	0
SLC1A1	6505	broad.mit.edu	37	9	4573943	4573943	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:4573943G>A	uc003zij.2	+	7	1057	c.804G>A	c.(802-804)ggG>ggA	p.G268G	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	268					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TGATTGCTGGGAAGATCATAG	0.463000														246			101		0	0	0.003610	0	0
C14orf39	317761	broad.mit.edu	37	14	60921820	60921820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:60921820C>T	uc001xez.4	-	15	1512	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	C14orf39_uc010apo.3_Missense_Mutation_p.E179K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	468										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CCAGGGGATTCCTTTTCTGTT	0.294000														34			13		0	0	0.003163	0	0
PTPRB	5787	broad.mit.edu	37	12	70954554	70954554	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:70954554C>T	uc001swb.4	-	14	3705	c.3675G>A	c.(3673-3675)acG>acA	p.T1225T	PTPRB_uc010sto.2_Silent_p.T1135T|PTPRB_uc010stp.2_Silent_p.T1135T|PTPRB_uc001swc.4_Silent_p.T1443T|PTPRB_uc001swa.4_Silent_p.T1355T|PTPRB_uc001swd.4_Silent_p.T1442T|PTPRB_uc009zrr.2_Silent_p.T1322T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1225	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T1225K(1)|p.L1224P(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCGCCACTCCGTCAGGTCCT	0.488000														24			12		0	0	0.000978	0	0
AMPD1	270	broad.mit.edu	37	1	115238105	115238105	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:115238105C>T	uc001efe.2	-	0	135	c.87G>A	c.(85-87)agG>agA	p.R29R	AMPD1_uc001eff.2_Silent_p.R29R	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	0					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTGCTGAAATCCTTGATTCTA	0.378000														296			135		0	0	0.003610	0	0
NBEA	26960	broad.mit.edu	37	13	36241521	36241522	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:36241521_36241522CC>TT	uc021rid.1	+	55	8946_8947	c.8412_8413CC>TT	c.(8410-8415)tgcctt>tgTTtt	p.L2805F	NBEA_uc021ric.1_Missense_Mutation_p.L2802F|NBEA_uc010abi.3_Missense_Mutation_p.L1463F|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.L598F|NBEA_uc001uvd.3_Missense_Mutation_p.L383F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2805						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGGCCCTTGCCTTGTCCACAC	0.530000														192			104		0	0	0.004672	0	0
HHIP	64399	broad.mit.edu	37	4	145573916	145573916	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:145573916G>T	uc003ijs.2	+	1	1119	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	HHIP_uc003ijr.2_Nonsense_Mutation_p.E147*	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	147						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTATTGCAAAGAATTCTTTTA	0.388000														515			104		3.54964e-55	5.22006e-55	0.003610	1	0
CLRN1	7401	broad.mit.edu	37	3	150645793	150645793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:150645793C>T	uc021xfs.1	-	3	959	c.668G>A	c.(667-669)gGa>gAa	p.G223E	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Intron|CLRN1_uc021xfr.1_Intron|CLRN1_uc003eyj.3_Intron|CLRN1_uc003eyk.1_Missense_Mutation_p.G210E	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	210					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAACTGAAATCCAGCAAGTCG	0.363000														100			57		0	0	0.003610	0	0
MEP1B	4225	broad.mit.edu	37	18	29797810	29797810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:29797810C>T	uc002kxj.4	+	13	2020	c.1973C>T	c.(1972-1974)tCa>tTa	p.S658L		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	658					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATTGCTGTTTCATCTACTGTT	0.483000														92			51		0	0	0.003610	0	0
CENPC1	1060	broad.mit.edu	37	4	68385125	68385125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:68385125C>T	uc003hdd.1	-	5	610	c.427G>A	c.(427-429)Gat>Aat	p.D143N	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.D143N	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	143					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						CTGTGATGATCATTTATGTTT	0.353000														36			7		0	0	0.004482	0	0
OR4K1	79544	broad.mit.edu	37	14	20404475	20404475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20404475C>T	uc001vwj.2	+	0	709	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTAATTATTTCCTACACCATC	0.433000														105			25		0	0	0.002780	0	0
CDH6	1004	broad.mit.edu	37	5	31294268	31294268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:31294268C>T	uc003jhe.2	+	2	788	c.428C>T	c.(427-429)tCt>tTt	p.S143F	CDH6_uc003jhd.2_Missense_Mutation_p.S143F	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGCCCGAGTCTGAATTCATC	0.478000														31			34		0	0	0.003755	0	0
LRTM1	57408	broad.mit.edu	37	3	54958919	54958919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:54958919G>A	uc003dhl.3	-	1	465	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	111						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TCCAGGGAAAGGAGTGAATTC	0.473000														77			40		0	0	0.008740	0	0
PIDD	55367	broad.mit.edu	37	11	803208	803208	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:803208G>A	uc001lro.2	-	2	822	c.675C>T	c.(673-675)gcC>gcT	p.A225A	PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_Silent_p.A79A|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_Silent_p.A79A|PIDD_uc001lrk.2_Silent_p.A225A|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	225					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GCCGGTTGGAGGCCAGGTTGA	0.652000														155			146		0	0	0.003610	0	0
TIAM2	26230	broad.mit.edu	37	6	155450878	155450878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:155450878G>A	uc003qqb.3	+	5	1794	c.521G>A	c.(520-522)aGg>aAg	p.R174K	TIAM2_uc003qqe.3_Missense_Mutation_p.R174K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	174					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGTGTTTAAGGGTCGAGTTC	0.587000														37			57		0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10405001	10405001	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:10405001C>T	uc002gmo.3	-	26	3352	c.3258_splice	c.e26-1	p.K1086_splice	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1086						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAAACTCTTTCCTATTAGAAA	0.363000														33			72		0	0	0.003610	0	0
PDE4B	5142	broad.mit.edu	37	1	66838170	66838170	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:66838170C>T	uc001dcn.3	+	16	2211	c.2020C>T	c.(2020-2022)Ctg>Ttg	p.L674L	PDE4B_uc009war.3_Silent_p.L582L|PDE4B_uc001dco.3_Silent_p.L674L|PDE4B_uc001dcp.3_Silent_p.L659L|PDE4B_uc001dcq.3_Silent_p.L502L|PDE4B_uc009was.3_Silent_p.L441L	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	674					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CTGCCAGGGTCTGATGGAGAA	0.488000														27			19		0	0	0.006122	0	0
TNN	63923	broad.mit.edu	37	1	175046873	175046873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:175046873G>A	uc001gkl.1	+	1	432	c.319G>A	c.(319-321)Gac>Aac	p.D107N	TNN_uc010pmx.1_Missense_Mutation_p.D107N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	107					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGTGTCCAGGACCTCCTGGC	0.607000														261			265		0	0	0.003610	0	0
PRPF8	10594	broad.mit.edu	37	17	1563247	1563247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:1563247C>T	uc002fte.3	-	30	4948	c.4834G>A	c.(4834-4836)Gag>Aag	p.E1612K		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1612						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGGATTGTCTCCTTTTGTACT	0.428000														87			137		0	0	0.003610	0	0
DHX57	90957	broad.mit.edu	37	2	39095502	39095502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:39095502C>T	uc002rrf.3	-	1	145	c.46G>A	c.(46-48)Gga>Aga	p.G16R	DHX57_uc002rre.3_5'Flank|DHX57_uc002rrg.3_Missense_Mutation_p.G16R	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	16	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GACCCTTTTCCACCTCCTTTG	0.493000														444			198		0	0	0.003610	0	0
S100A10	6281	broad.mit.edu	37	1	151958702	151958702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151958702G>A	uc001ezl.3	-	1	513	c.5C>T	c.(4-6)cCa>cTa	p.P2L		NM_002966	NP_002957	P60903	S10AA_HUMAN	Homo sapiens S100 calcium binding protein A10 (S100A10), mRNA.	2					signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATTTGAGATGGCATTTTGGT	0.378000														471			415		0	0	0.003610	0	0
KCNB1	3745	broad.mit.edu	37	20	47991500	47991500	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:47991500G>A	uc002xur.1	-	1	763	c.597C>T	c.(595-597)atC>atT	p.I199I	KCNB1_uc002xus.1_Silent_p.I199I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	199					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGAGAGGACGATGAACATGA	0.522000														68			32		0	0	0.009535	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583408	80583408	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:80583408A>G	uc002ffo.3	+	2	227	c.107A>G	c.(106-108)aAc>aGc	p.N36S	DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA.	36					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						ACCTTGGACAACTCAACAACT	0.358000														71			43		0	0	0.002852	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444253	5444253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5444253C>T	uc010qzd.2	+	0	913	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCACTGGTCCATGTTATCAT	0.473000														149			231		0	0	0.003610	0	0
ZNF615	284370	broad.mit.edu	37	19	52505120	52505121	+	Nonsense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:52505120_52505121GT>AA	uc002pyf.2	-	4	500_501	c.183_184AC>TT	c.(181-186)gaacga>gaTTga	p.61_62ER>D*	ZNF615_uc002pye.2_Nonsense_Mutation_p.61_62ER>D*|ZNF615_uc002pyh.2_Nonsense_Mutation_p.61_62ER>D*|ZNF615_uc010epi.2_Nonsense_Mutation_p.57_58ER>D*|ZNF615_uc002pyg.2_5'UTR|ZNF615_uc010ydg.2_Nonsense_Mutation_p.66_67ER>D*	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTTCTCCTCGTTCCAATTTGG	0.455000														168			46		0	0	0.004672	0	0
OR56A3	390083	broad.mit.edu	37	11	5969381	5969381	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5969381A>G	uc010qzt.2	+	0	805	c.805A>G	c.(805-807)Aag>Gag	p.K269E		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTGGCTAAGAAGAAAGT	0.517000														420			109		0	0	0.003610	0	0
HVCN1	84329	broad.mit.edu	37	12	111089095	111089095	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:111089095G>A	uc001trs.1	-	5	735	c.570C>T	c.(568-570)ttC>ttT	p.F190F	HVCN1_uc001trq.1_Silent_p.F190F|HVCN1_uc001trt.1_Silent_p.F190F|HVCN1_uc010syd.1_Silent_p.F170F	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	190					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.F190F(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGTGCTCCTGGAACAGGAGGA	0.557000														85			39		0	0	0.004878	0	0
OR4B1	119765	broad.mit.edu	37	11	48238452	48238452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:48238452C>T	uc010rhs.2	+	0	91	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTGTTTCTCCCCGTGTACCT	0.502000														111			89		0	0	0.003610	0	0
DGKI	9162	broad.mit.edu	37	7	137080407	137080407	+	Silent	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:137080407C>A	uc003vtt.3	-	32	3019	c.3018G>T	c.(3016-3018)cgG>cgT	p.R1006R	DGKI_uc003vtu.3_Silent_p.R675R	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	1006					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R1006W(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGCCCGGTTCCGCTGGCAGG	0.557000														39			28		4.34311e-12	6.33762e-12	0.003271	1	0
S100A10	6281	broad.mit.edu	37	1	151958704	151958704	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151958704C>A	uc001ezl.3	-	1	511	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_002966	NP_002957	P60903	S10AA_HUMAN	Homo sapiens S100 calcium binding protein A10 (S100A10), mRNA.	1					signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTGAGATGGCATTTTGGTGT	0.373000														468			412		4.18878e-135	6.20219e-135	0.003610	1	0
NUP210	23225	broad.mit.edu	37	3	13359188	13359188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:13359188G>A	uc003bxv.1	-	39	5740	c.5657C>T	c.(5656-5658)tCc>tTc	p.S1886F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1886					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCCTAGTGGGAGGCATAGGC	0.612000														58			43		0	0	0.002522	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAACAGCACATCAGCTTCG	0.433000														147			231		0	0	0.003610	0	0
FNDC1	84624	broad.mit.edu	37	6	159672449	159672449	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:159672449G>A	uc010kjv.3	+	16	5150	c.4950G>A	c.(4948-4950)aaG>aaA	p.K1650K		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1650						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCTGAAGAAGAGTGACCTGC	0.547000														12			23		0	0	0.001882	0	0
COL5A1	1289	broad.mit.edu	37	9	137716551	137716551	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:137716551G>C	uc004cfe.3	+	61	5186	c.4804G>C	c.(4804-4806)Gtg>Ctg	p.V1602L	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1602	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGAGAACTACGTGGACTACGC	0.622000														114			183		0	0	0.003610	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039804	62039805	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:62039804_62039805GG>AA	uc002yey.1	-	15	2025_2026	c.1848_1849CC>TT	c.(1846-1851)gacccc>gaTTcc	p.P617S	KCNQ2_uc002yez.1_Missense_Mutation_p.P586S|KCNQ2_uc002yfa.1_Missense_Mutation_p.P599S|KCNQ2_uc002yfb.1_Missense_Mutation_p.P589S	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	617					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATCATGCTGGGGTCCTCGGGCA	0.703000														110			69		0	0	0.004672	0	0
ATM	472	broad.mit.edu	37	11	108155011	108155011	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:108155011G>A	uc001pkb.1	+	25	4189	c.3804G>A	c.(3802-3804)gtG>gtA	p.V1268V	ATM_uc009yxr.1_Silent_p.V1268V|ATM_uc001pkd.4_5'Flank|ATM_uc001pke.2_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1268					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.E1267K(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTGATGAGGTGAAGTCCATTG	0.308000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				35			9		0	0	0.006214	0	0
DBN1	1627	broad.mit.edu	37	5	176885602	176885602	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:176885602G>A	uc003mgx.2	-	12	1521	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P	DBN1_uc011dga.1_Silent_p.P143P|DBN1_uc003mgy.2_Silent_p.P411P|DBN1_uc010jkn.1_Silent_p.P361P|DBN1_uc003mgz.1_Silent_p.P394P	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	411					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCCCCCGGGGAGGCGCCT	0.692000														70			141		0	0	0.003610	0	0
TOX	9760	broad.mit.edu	37	8	59764150	59764150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:59764150C>T	uc003xtw.1	-	3	847	c.626G>A	c.(625-627)gGa>gAa	p.G209E		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	209						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGACTTGCTTCCAGGTGGAGA	0.458000														27			9		0	0	0.001368	0	0
PLEC	5339	broad.mit.edu	37	8	144993387	144993388	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:144993387_144993388GG>AA	uc003zaf.1	-	31	11182_11183	c.11012_11013CC>TT	c.(11011-11013)ccc>cTT	p.P3671L	PLEC_uc003zab.1_Missense_Mutation_p.P3534L|PLEC_uc003zac.1_Missense_Mutation_p.P3538L|PLEC_uc003zad.2_Missense_Mutation_p.P3534L|PLEC_uc003zae.1_Missense_Mutation_p.P3502L|PLEC_uc003zag.1_Missense_Mutation_p.P3512L|PLEC_uc003zah.2_Missense_Mutation_p.P3520L|PLEC_uc003zaj.2_Missense_Mutation_p.P3561L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3671	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCCCGTCTCGGGGTCCTCCAC	0.624000														588			279		0	0	0.004672	0	0
MAP3K11	4296	broad.mit.edu	37	11	65367187	65367188	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:65367187_65367188GG>AA	uc001oew.3	-	8	2376_2377	c.1883_1884CC>TT	c.(1882-1884)ccc>cTT	p.P628L	MAP3K11_uc001oev.3_Missense_Mutation_p.P44L|MAP3K11_uc010rol.2_Missense_Mutation_p.P371L|MAP3K11_uc001oex.1_Missense_Mutation_p.P135L	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	628	Pro-rich.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGCGCTCTGCGGGGACAGGCCT	0.728000														103			31		0	0	0.004672	0	0
USP17L2	377630	broad.mit.edu	37	8	11995798	11995798	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:11995798G>A	uc003wvc.1	-	0	472	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	158					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCATCTTCCTGCTTGCCTCTA	0.527000														36			4		0	0	0.009096	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855765	228855765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:228855765C>T	uc002vpq.2	-	10	4957	c.4910G>A	c.(4909-4911)gGg>gAg	p.G1637E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G1608E|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1637						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTGGGAATCCCCAGTTCAGA	0.483000														22			9		0	0	0.001368	0	0
ZNF451	26036	broad.mit.edu	37	6	57006886	57006886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:57006886C>T	uc003pdm.1	+	8	1221	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	ZNF451_uc003pdl.3_Missense_Mutation_p.H333Y|ZNF451_uc003pdn.1_Missense_Mutation_p.H333Y|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.H333Y	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GCTCACTGCCCATTTCAGGTT	0.433000														60			45		0	0	0.003610	0	0
C15orf23	90417	broad.mit.edu	37	15	40675112	40675112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:40675112C>T	uc001zll.3	+	0	191	c.76C>T	c.(76-78)Cca>Tca	p.P26S	C15orf23_uc001zlo.3_Missense_Mutation_p.P26S|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.P26S	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	26						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CGATTCCCACCCACTTCCGCC	0.567000														402			284		0	0	0.003610	0	0
MYOCD	93649	broad.mit.edu	37	17	12639528	12639528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:12639528G>A	uc002gno.2	+	5	765	c.466G>A	c.(466-468)Gac>Aac	p.D156N	MYOCD_uc002gnn.2_Missense_Mutation_p.D156N|MYOCD_uc002gnp.1_Missense_Mutation_p.D60N	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	156	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTTGAAGAGGACAGCAGCAG	0.537000														121			133		0	0	0.003610	0	0
ODZ4	26011	broad.mit.edu	37	11	78482078	78482078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:78482078G>A	uc001ozl.4	-	17	2961	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	833					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGTCTCCATGGAAGTGTCACA	0.612000														5			8		0	0	0.003080	0	0
ARAP2	116984	broad.mit.edu	37	4	36130218	36130218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:36130218G>A	uc003gsq.2	-	20	3915	c.3577C>T	c.(3577-3579)Ctc>Ttc	p.L1193F		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1193	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATGTCAGAGAGAAAACTTTTC	0.383000														30			4		0	0	0.009096	0	0
RBM5	10181	broad.mit.edu	37	3	50129560	50129560	+	Silent	SNP	G	A	A	rs146767621	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:50129560G>A	uc003cyg.3	+	2	277	c.102G>A	c.(100-102)cgG>cgA	p.R34R	RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript|RBM5_uc003cyf.3_Silent_p.R34R|RBM5_uc011bdj.2_Missense_Mutation_p.G12E|RBM5_uc011bdk.2_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	34					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAGCAGGCGGAGGGACTCAG	0.498000														280			182		0	0	0.003610	0	0
ESR2	2100	broad.mit.edu	37	14	64724039	64724039	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:64724039C>T	uc001xha.1	-	5	1464	c.996G>A	c.(994-996)gaG>gaA	p.E332E	ESR2_uc001xgy.2_Silent_p.E332E|ESR2_uc001xgu.3_Silent_p.E332E|ESR2_uc001xgv.3_Silent_p.E332E|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Silent_p.E332E|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Intron|ESR2_uc001xgz.2_Silent_p.E332E|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	332	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TCCAACAGCTCTCCAAGAGCC	0.577000														398			264		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61834193	61834193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61834193G>A	uc001jky.3	-	36	6784	c.6446C>T	c.(6445-6447)cCt>cTt	p.P2149L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2149					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTGGTTTAGGACCAGTGCT	0.453000														51			22		0	0	0.004656	0	0
FREM2	341640	broad.mit.edu	37	13	39452977	39452977	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:39452977C>T	uc001uwv.3	+	22	9178	c.8869C>T	c.(8869-8871)Cag>Tag	p.Q2957*		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2957					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGACAAAGCTCAGCCAGAGAC	0.443000														31			18		0	0	0.008871	0	0
COL4A6	1288	broad.mit.edu	37	X	107418434	107418434	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:107418434T>G	uc004enw.4	-	29	2948	c.2845A>C	c.(2845-2847)Aat>Cat	p.N949H	COL4A6_uc004env.4_Missense_Mutation_p.N948H|COL4A6_uc011msn.2_Missense_Mutation_p.N948H|COL4A6_uc010npk.3_Missense_Mutation_p.N948H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	949	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCCCCGGATTGCCTCTGTCT	0.517000									Alport syndrome with Diffuse Leiomyomatosis					32			84		0	0	0.003610	0	0
AQP10	89872	broad.mit.edu	37	1	154295777	154295777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:154295777C>T	uc001feu.3	+	3	471	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	144					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGACAGCCTCCATTTTTGCC	0.547000														444			476		0	0	0.003610	0	0
HTR5A	3361	broad.mit.edu	37	7	154863154	154863154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:154863154G>A	uc003wlu.1	+	0	609	c.545G>A	c.(544-546)gGa>gAa	p.G182E	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	182						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTTGGCTGGGGAGAGACGTAC	0.632000														247			147		0	0	0.003610	0	0
MCCC1	56922	broad.mit.edu	37	3	182789134	182789134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:182789134G>A	uc003fle.3	-	5	640	c.503C>T	c.(502-504)tCc>tTc	p.S168F	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.S51F|MCCC1_uc003flg.3_Missense_Mutation_p.S59F|MCCC1_uc011bqp.1_Missense_Mutation_p.S121F|MCCC1_uc011bqq.1_Missense_Mutation_p.S59F	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	168	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AGCCATTATGGATTTGGATGT	0.418000														218			151		0	0	0.003610	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817382	26817382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:26817382G>A	uc010wan.2	+	2	356	c.289G>A	c.(289-291)Gga>Aga	p.G97R	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Intron|SLC13A2_uc002hbh.3_Intron|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_Missense_Mutation_p.G5E	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGTCTGTGGGAATGTCAGT	0.522000														301			203		0	0	0.003610	0	0
CBX8	57332	broad.mit.edu	37	17	77770084	77770084	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:77770084G>A	uc002jxd.2	-	2	262	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	48	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGCATCCAGGATGTTTTCCT	0.547000														593			344		0	0	0.003610	0	0
ASPM	259266	broad.mit.edu	37	1	197071299	197071299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:197071299G>A	uc001gtu.3	-	17	7339	c.7082C>T	c.(7081-7083)tCc>tTc	p.S2361F	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.S209F	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2361	IQ 23.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATCACAACGGAGGCCTGTTT	0.458000														49			19		0	0	0.007413	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166799	180166799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:180166799C>T	uc003mmf.1	-	0	260	c.260G>A	c.(259-261)gGg>gAg	p.G87E		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGTCCACCCCGCAAAGGTT	0.592000														194			32		0	0	0.008361	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34097853	34097853	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:34097853T>G	uc001mvh.1	+	4	626	c.437T>G	c.(436-438)tTa>tGa	p.L146*	CAPRIN1_uc001mvg.3_Nonsense_Mutation_p.L146*|CAPRIN1_uc001mvi.2_Nonsense_Mutation_p.L146*|CAPRIN1_uc001mvj.1_Nonsense_Mutation_p.L65*	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	146					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CAGAAACGTTTAAAAACTGTA	0.388000														53			73		0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124392781	124392781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124392781C>T	uc001lgk.1	+	48	6191	c.6085C>T	c.(6085-6087)Cca>Tca	p.P2029S	DMBT1_uc001lgl.1_Missense_Mutation_p.P2019S|DMBT1_uc001lgm.1_Missense_Mutation_p.P1401S|DMBT1_uc021qaf.1_Missense_Mutation_p.P2029S|DMBT1_uc021qag.1_Missense_Mutation_p.P2019S|DMBT1_uc021qah.1_Missense_Mutation_p.P1401S|DMBT1_uc009xzz.1_Missense_Mutation_p.P2028S|DMBT1_uc010qtx.1_Missense_Mutation_p.P749S|DMBT1_uc009yab.1_Missense_Mutation_p.P732S|DMBT1_uc009yac.1_Missense_Mutation_p.P323S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2029	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGGGAACTATCCAAACAATGC	0.493000														224			87		0	0	0.003610	0	0
VWA3B	200403	broad.mit.edu	37	2	98920243	98920243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:98920243C>T	uc002syo.3	+	25	3763	c.3499C>T	c.(3499-3501)Cca>Tca	p.P1167S	VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.P824S|VWA3B_uc002syp.1_Missense_Mutation_p.P559S|VWA3B_uc002syq.1_Missense_Mutation_p.P443S|VWA3B_uc002syr.1_Missense_Mutation_p.P484S|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1167										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAGTCACCCCCAATTCCTGA	0.373000														80			37		0	0	0.008740	0	0
GPR146	115330	broad.mit.edu	37	7	1097781	1097781	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:1097781C>T	uc003sjx.4	+	1	829	c.630C>T	c.(628-630)ctC>ctT	p.L210L	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Silent_p.L210L	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA.	210						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGGTGCTACTCTCCCGCGTCC	0.682000														105			59		0	0	0.003610	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958469	21958469	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:21958469C>T	uc011kyx.2	+	11	1653	c.1602C>T	c.(1600-1602)acC>acT	p.T534T	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	534										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCAGTGACCGAGATCGTCA	0.483000														250			138		0	0	0.003610	0	0
G6PC	2538	broad.mit.edu	37	17	41063225	41063225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:41063225G>A	uc002icb.1	+	4	935	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	286					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAGCTGCAAGGGGAAACTCAG	0.577000														120			71		0	0	0.003610	0	0
STEAP3	55240	broad.mit.edu	37	2	120005746	120005746	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:120005746C>T	uc002tlp.3	+	3	1141	c.984C>T	c.(982-984)gcC>gcT	p.A328A	STEAP3_uc002tlq.3_Silent_p.A338A|STEAP3_uc002tlr.3_Silent_p.A328A|STEAP3_uc010fle.3_Silent_p.A328A	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	328	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGCGCCGCGCCCACCGCTACG	0.652000														255			130		0	0	0.003610	0	0
PGBD1	84547	broad.mit.edu	37	6	28268620	28268620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:28268620C>T	uc003nky.3	+	6	1409	c.989C>T	c.(988-990)tCc>tTc	p.S330F	PGBD1_uc003nkz.3_Missense_Mutation_p.S330F	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	330					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CACATCTCATCCCTGGAATAT	0.488000														79			41		0	0	0.008740	0	0
CR1L	1379	broad.mit.edu	37	1	207850845	207850845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:207850845C>T	uc001hga.4	+	1	330	c.209C>T	c.(208-210)tCc>tTc	p.S70F	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	70	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTGGTTATTCCGGAAGACCG	0.473000														355			286		0	0	0.003610	0	0
ACAN	176	broad.mit.edu	37	15	89381943	89381944	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:89381943_89381944GG>AA	uc010upo.1	+	2	494_495	c.120_121GG>AA	c.(118-123)agggtc>agAAtc	p.V41I	ACAN_uc002bmx.3_Missense_Mutation_p.V41I|ACAN_uc010upp.1_Missense_Mutation_p.V41I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	41					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCCGCTGAGGGTCCTCCTGGG	0.604000														423			215		0	0	0.004672	0	0
KIAA0182	23199	broad.mit.edu	37	16	85690882	85690882	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:85690882G>A	uc002fix.3	+	8	1387	c.1313_splice	c.e8-1	p.E438_splice	KIAA0182_uc002fiw.3_Splice_Site_p.E334_splice|KIAA0182_uc002fiy.3_Splice_Site_p.E365_splice	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	438							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						TCCCCCCACAGAGAAGCTGAA	0.642000														335			176		0	0	0.003610	0	0
TMEM48	55706	broad.mit.edu	37	1	54262616	54262616	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:54262616G>C	uc001cvs.3	-	11	1715	c.1424C>G	c.(1423-1425)cCt>cGt	p.P475R	TMEM48_uc010onu.2_Missense_Mutation_p.P435R|TMEM48_uc001cvt.3_Missense_Mutation_p.P352R|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_Missense_Mutation_p.P140R	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	475					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TATTAGCTGAGGACTTTGCGG	0.423000														123			89		0	0	0.003610	0	0
KIAA0146	23514	broad.mit.edu	37	8	48508560	48508560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:48508560G>A	uc003xqd.3	+	8	1347	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	KIAA0146_uc011lcz.2_Non-coding_Transcript|KIAA0146_uc011lda.2_Missense_Mutation_p.E118K|KIAA0146_uc011ldb.2_Missense_Mutation_p.E429K|KIAA0146_uc010lxs.3_Intron|KIAA0146_uc011ldc.2_Missense_Mutation_p.E359K|KIAA0146_uc011ldd.2_Missense_Mutation_p.E369K|KIAA0146_uc003xqe.3_5'UTR|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Missense_Mutation_p.E118K|KIAA0146_uc010lxt.3_Missense_Mutation_p.E118K	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	429										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TAATTCACCTGAAATCCAGGT	0.393000														25			13		0	0	0.001368	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029730	193029730	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:193029730C>T	uc011bsq.2	-	20	2320	c.2320_splice	c.e20-1	p.E774_splice		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	774					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATGTAGATTTCCTAAAATCAA	0.408000														35			16		0	0	0.006122	0	0
CPT1C	126129	broad.mit.edu	37	19	50209263	50209263	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:50209263C>T	uc010eng.3	+	10	1378	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	CPT1C_uc002ppl.4_Silent_p.S320S|CPT1C_uc002ppi.3_Silent_p.S271S|CPT1C_uc002ppk.3_Silent_p.S343S|CPT1C_uc010enh.3_Silent_p.S354S|CPT1C_uc002ppj.3_Silent_p.S354S|CPT1C_uc010ybc.1_Silent_p.S225S|CPT1C_uc010eni.1_Silent_p.S11S	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	354					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCTGCTTTCCCCGAGAGCCC	0.612000														402			254		0	0	0.003610	0	0
C5orf45	51149	broad.mit.edu	37	5	179264662	179264663	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:179264662_179264663GG>AA	uc003mla.3	-	6	804_805	c.760_761CC>TT	c.(760-762)ccc>TTc	p.P254F	SQSTM1_uc011dgr.2_3'UTR|SQSTM1_uc011dgs.2_3'UTR|SQSTM1_uc003mkw.4_3'UTR|SQSTM1_uc003mkx.3_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.3_Missense_Mutation_p.P199F|C5orf45_uc003mlb.3_Missense_Mutation_p.P120F|C5orf45_uc021yjh.1_Non-coding_Transcript	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	254										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AGCTGGCCTGGGGTCCCTCTGA	0.589000														142			260		0	0	0.004672	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019254	147019254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:147019254C>T	uc010jgo.1	-	8	1619	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	JAKMIP2_uc003loq.1_Missense_Mutation_p.A491T|JAKMIP2_uc011dbx.1_Missense_Mutation_p.A449T|JAKMIP2_uc003lor.1_Missense_Mutation_p.A491T|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	491						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGCATATGCTCTTTGGAGG	0.448000														161			219		0	0	0.003610	0	0
GPR26	2849	broad.mit.edu	37	10	125447574	125447574	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:125447574C>T	uc001lhh.3	+	2	965	c.912C>T	c.(910-912)agC>agT	p.S304S		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	304					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				ACCGCAAAAGCTGCAAGGAGA	0.587000														257			105		0	0	0.003610	0	0
FBN3	84467	broad.mit.edu	37	19	8174164	8174164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8174164G>A	uc002mjf.3	-	34	4582	c.4565C>T	c.(4564-4566)tCc>tTc	p.S1522F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1522	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCGGCCCAGGGAGCAACAGCA	0.627000														201			88		0	0	0.003610	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514855	233514855	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:233514855C>T	uc001hvt.4	+	8	2364	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	KIAA1804_uc001hvu.4_Silent_p.S147S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	701				S -> T (in Ref. 1; CAC84640).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CCACAGTCTCCATTGAGATGA	0.527000														92			35		0	0	0.003755	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135361	126135361	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:126135361C>T	uc001uhe.1	+	6	1769	c.1761C>T	c.(1759-1761)acC>acT	p.T587T	TMEM132B_uc001uhf.1_Silent_p.T99T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	587						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAGCTGACCTACATGCTGG	0.582000														38			26		0	0	0.004656	0	0
DPP10	57628	broad.mit.edu	37	2	116497419	116497419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:116497419C>T	uc002tle.3	+	8	835	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	DPP10_uc002tla.2_Missense_Mutation_p.R268W|DPP10_uc002tlb.2_Missense_Mutation_p.R218W|DPP10_uc002tlc.2_Missense_Mutation_p.R264W|DPP10_uc002tlf.2_Missense_Mutation_p.R261W	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	268					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTTATCCCTCGGTTTACTGG	0.458000														38			35		0	0	0.004289	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256530	+	Missense_Mutation	DNP	TG	AA	AA	rs121913254		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:115256529_115256530TG>AA	uc009wgu.3	-	2	435_436	c.181_182CA>TT	c.(181-183)caa>TTa	p.Q61L		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(1229)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(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)		GTACTCTTCTTGTCCAGCTGTA	0.460000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)|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)				563			312		0	0	0.004672	0	0
OR5L1	219437	broad.mit.edu	37	11	55579712	55579712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55579712C>T	uc001nhw.1	+	0	770	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACAGTCCTTTCCATTTATTGC	0.512000														141			36		0	0	0.005524	0	0
F8	2157	broad.mit.edu	37	X	154159546	154159546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:154159546G>A	uc004fmt.3	-	13	2690	c.2519C>T	c.(2518-2520)tCa>tTa	p.S840L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	840	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGCTCCAGGTGATGGATCATC	0.463000														14			36		0	0	0.004289	0	0
IL17RA	23765	broad.mit.edu	37	22	17578741	17578741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:17578741C>T	uc002zly.3	+	2	349	c.218C>T	c.(217-219)cCa>cTa	p.P73L		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	73					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCTCCTCCCCAAAGGACCTG	0.572000														240			139		0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219878241	219878241	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219878241C>T	uc002vjl.1	-	23	3930	c.3846_splice	c.e23+1	p.L1282_splice		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1282						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCCTCACCAGGATCTCCC	0.597000														86			54		0	0	0.003610	0	0
LCE5A	254910	broad.mit.edu	37	1	152484087	152484087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:152484087C>T	uc021oyx.1	+	0	77	c.77C>T	c.(76-78)cCt>cTt	p.P26L	LCE5A_uc001ezy.3_Missense_Mutation_p.P26L|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	26	Cys-rich.				keratinization			p.P26H(2)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			aagtgtactcctaagtgtcct	0.577000														216			291		0	0	0.003610	0	0
SCRN3	79634	broad.mit.edu	37	2	175264816	175264816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:175264816G>A	uc002uiq.3	+	2	424	c.326G>A	c.(325-327)gGa>gAa	p.G109E	SCRN3_uc010zen.2_Missense_Mutation_p.G102E|SCRN3_uc010zeo.2_5'UTR|SCRN3_uc002uir.1_Non-coding_Transcript	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.	109					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GCACTATTAGGAATGGACCTT	0.358000														441			217		0	0	0.003610	0	0
UNC13A	23025	broad.mit.edu	37	19	17737533	17737533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17737533C>T	uc021uqk.1	-	33	4021	c.3979G>A	c.(3979-3981)Ggc>Agc	p.G1327S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1328					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTGCCTGTGCCCTTAACCTGG	0.587000														92			56		0	0	0.003610	0	0
C14orf101	54916	broad.mit.edu	37	14	57082683	57082683	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:57082683G>A	uc001xcm.3	+	7	1001	c.879G>A	c.(877-879)agG>agA	p.R293R	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc010aot.1_Silent_p.R293R|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR|C14orf101_uc001xco.3_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	293						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CAAATATGAGGACCGAACTCT	0.318000														203			100		0	0	0.003610	0	0
SVIL	6840	broad.mit.edu	37	10	29747363	29747363	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:29747363C>T	uc001iut.1	-	37	7311	c.6558_splice	c.e37+1	p.E2186_splice	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Splice_Site_p.E1100_splice|SVIL_uc001iuu.1_Splice_Site_p.E1760_splice	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	2186	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AACCGCTTACCTCGAAGTCTT	0.597000														108			83		0	0	0.003610	0	0
CLEC2B	9976	broad.mit.edu	37	12	10010159	10010159	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:10010159T>C	uc001qwn.3	-	2	808	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA.	51	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CCTTCTTCTTTAGAGAAATAA	0.318000														37			8		0	0	0.003080	0	0
CDK14	5218	broad.mit.edu	37	7	90741984	90741984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:90741984G>A	uc003uky.2	+	12	1504	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	CDK14_uc003ukz.1_Missense_Mutation_p.E410K|CDK14_uc010les.1_Missense_Mutation_p.E382K|CDK14_uc011khl.1_Missense_Mutation_p.E299K	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	428					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ACGGCTATGGGAACTCACCGA	0.493000														9			16		0	0	0.004007	0	0
CROCC	9696	broad.mit.edu	37	1	17277559	17277559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:17277559C>T	uc001azt.2	+	19	3017	c.2948C>T	c.(2947-2949)tCt>tTt	p.S983F	CROCC_uc009voz.1_Intron|CROCC_uc001azu.2_Missense_Mutation_p.S286F	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	983					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCCAGGCCTCTCTGCGGGAG	0.622000														198			113		0	0	0.003610	0	0
PALM	5064	broad.mit.edu	37	19	731131	731131	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:731131C>T	uc002lpm.1	+	4	500	c.306C>T	c.(304-306)gaC>gaT	p.D102D	PALM_uc010xft.2_Silent_p.D102D|PALM_uc002lpn.1_Silent_p.D102D|PALM_uc010xfu.1_5'UTR	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	102					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		AGCGTGGAGACTCCGCCCCAG	0.672000														105			55		0	0	0.003610	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397610	75397610	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:75397610T>C	uc001jur.3	-	2	509	c.144A>G	c.(142-144)gaA>gaG	p.E48E		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	48					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GCAGCGACAGTTCCTCCAACA	0.493000														501			385		0	0	0.003610	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945466	119945466	+	Missense_Mutation	SNP	G	A	A	rs150777320		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:119945466G>A	uc003yon.4	-	1	427	c.104C>T	c.(103-105)aCc>aTc	p.T35I	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	35					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CTGATGAGAGGTTTCTTCGTC	0.483000														239			130		0	0	0.003610	0	0
OGDH	4967	broad.mit.edu	37	7	44735718	44735718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:44735718C>T	uc003tln.3	+	12	1922	c.1763C>T	c.(1762-1764)cCc>cTc	p.P588L	OGDH_uc011kbx.2_Missense_Mutation_p.P584L|OGDH_uc011kby.2_Missense_Mutation_p.P438L|OGDH_uc003tlp.3_Missense_Mutation_p.P599L|OGDH_uc011kbz.2_Missense_Mutation_p.P383L|OGDH_uc003tlo.1_Missense_Mutation_p.P421L	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	588					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTGGACTCTCCCTGGCCTGGT	0.443000														151			93		0	0	0.003610	0	0
SORL1	6653	broad.mit.edu	37	11	121477909	121477909	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:121477909G>A	uc001pxx.3	+	36	5205	c.5076G>A	c.(5074-5076)agG>agA	p.R1692R	SORL1_uc010rzp.1_Silent_p.R538R|SORL1_uc010rzq.1_Silent_p.R307R	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1692	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AATACAGCAGGAGTGGTTCCA	0.458000														169			28		0	0	0.009535	0	0
SEZ6	124925	broad.mit.edu	37	17	27306818	27306818	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:27306818C>T	uc002hdp.2	-	2	932	c.738G>A	c.(736-738)tgG>tgA	p.W246*	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Nonsense_Mutation_p.W246*|SEZ6_uc002hdq.1_Nonsense_Mutation_p.W121*|SEZ6_uc010crz.1_Nonsense_Mutation_p.W246*	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	246						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CTGAGAAATTCCAGCTACAAG	0.562000														70			56		0	0	0.003610	0	0
ZNF148	7707	broad.mit.edu	37	3	124952383	124952383	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:124952383T>A	uc003ehx.4	-	8	1673	c.1187A>T	c.(1186-1188)aAt>aTt	p.N396I	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.N396I|ZNF148_uc010hsa.3_Missense_Mutation_p.N396I|ZNF148_uc003eia.4_Missense_Mutation_p.N396I|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	396					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCTTACTATTAATTTTTTT	0.378000														30			22		0	0	0.003330	0	0
RNF17	56163	broad.mit.edu	37	13	25418068	25418068	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:25418068G>A	uc001upr.3	+	19	2831	c.2790G>A	c.(2788-2790)aaG>aaA	p.K930K	RNF17_uc010tdd.1_Silent_p.K789K|RNF17_uc010tde.2_Silent_p.K930K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.K869K|RNF17_uc010aac.3_Silent_p.K128K|RNF17_uc010aad.3_5'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	930					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTCCTGAGAAGATTTATGTTC	0.269000														37			12		0	0	0.001368	0	0
PKP4	8502	broad.mit.edu	37	2	159519537	159519537	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:159519537C>T	uc002tzv.3	+	13	2600	c.2340C>T	c.(2338-2340)gaC>gaT	p.D780D	PKP4_uc002tzt.1_Silent_p.D632D|PKP4_uc002tzu.3_Silent_p.D780D|PKP4_uc002tzw.3_Silent_p.D780D|PKP4_uc002tzx.3_Silent_p.D437D|PKP4_uc002tzy.1_Silent_p.D438D|PKP4_uc002uaa.3_Silent_p.D632D|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	780					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAGCAAAGACTCTGAGCCAA	0.463000										HNSCC(62;0.18)				59			41		0	0	0.009718	0	0
FAM69C	125704	broad.mit.edu	37	18	72109314	72109314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:72109314G>A	uc002llk.3	-	2	923	c.914C>T	c.(913-915)cCt>cTt	p.P305L		NM_001044369	NP_001037834	Q0P6D2	FA69C_HUMAN	Homo sapiens family with sequence similarity 69, member C (FAM69C), mRNA.	305						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						CCTCATTTTAGGTTCAAAAAA	0.453000														242			161		0	0	0.003610	0	0
LPHN3	23284	broad.mit.edu	37	4	62598838	62598838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:62598838C>T	uc010ihh.3	+	4	934	c.761C>T	c.(760-762)cCt>cTt	p.P254L	LPHN3_uc003hcq.4_Missense_Mutation_p.P254L|LPHN3_uc010ihg.1_Missense_Mutation_p.P322L|LPHN3_uc003hcs.1_Missense_Mutation_p.P83L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	254	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATACCTCCCCTTACCGATGG	0.423000														15			6		0	0	0.001168	0	0
EIF3E	3646	broad.mit.edu	37	8	109260865	109260865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:109260865G>A	uc003ymu.3	-	0	95	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F	EIF3E_uc010mcj.1_Missense_Mutation_p.L23F	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	23	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AGAAATTCAAGAAGCGGAAAG	0.532000														84			67		0	0	0.003610	0	0
FGD2	221472	broad.mit.edu	37	6	36983600	36983600	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:36983600C>T	uc010jwp.1	+	8	1257	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	FGD2_uc003ong.2_Silent_p.F84F|FGD2_uc011dtv.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	362	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCGCCCAGTTCCAGGTGAGGA	0.612000														47			26		0	0	0.006320	0	0
NTN5	126147	broad.mit.edu	37	19	49167959	49167959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49167959C>T	uc002pkb.3	-	2	793	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Missense_Mutation_p.G233S	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	233	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCACTCCGGCCGCCCGACAGT	0.657000														72			47		0	0	0.003610	0	0
BMPR1B	658	broad.mit.edu	37	4	96052390	96052390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:96052390G>A	uc003htm.4	+	9	1077	c.803G>A	c.(802-804)gGg>gAg	p.G268E	BMPR1B_uc010ilb.3_Missense_Mutation_p.G268E|BMPR1B_uc003htn.4_Missense_Mutation_p.G268E	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	268	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATATCAAAGGGACAGGGTCC	0.368000														81			20		0	0	0.002299	0	0
USP44	84101	broad.mit.edu	37	12	95914826	95914826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:95914826C>T	uc001teg.3	-	4	2030	c.1886G>A	c.(1885-1887)gGg>gAg	p.G629E	USP44_uc001teh.3_Missense_Mutation_p.G629E|USP44_uc009zte.3_Missense_Mutation_p.G626E	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	629					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AAATCCTTTCCCATGGTGCAT	0.458000														213			74		0	0	0.003610	0	0
SPTLC3	55304	broad.mit.edu	37	20	12990012	12990012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:12990012G>A	uc002wod.1	+	0	386	c.97G>A	c.(97-99)Gga>Aga	p.G33R	SPTLC3_uc002woc.3_Missense_Mutation_p.G33R	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	33					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CACAAAGAATGGAATAGTGAA	0.458000														31			22		0	0	0.001882	0	0
ZRANB1	54764	broad.mit.edu	37	10	126670317	126670317	+	Silent	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:126670317T>A	uc010qug.2	+	6	1649	c.1545T>A	c.(1543-1545)tcT>tcA	p.S515S	ZRANB1_uc001lic.3_Silent_p.S489S	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	489	OTU.|TRAF-binding.				Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CATGGTATTCTCAGAGCTTTG	0.348000														81			42		0	0	0.003610	0	0
NR5A1	2516	broad.mit.edu	37	9	127253505	127253505	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:127253505C>T	uc004boo.1	-	5	1180	c.993G>A	c.(991-993)gtG>gtA	p.V331V	NR5A1_uc022bnh.1_Silent_p.V291V	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	331	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						TGGTCAGCTCCACCTGGGGGC	0.697000														70			152		0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237947744	237947744	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:237947744C>T	uc001hyl.1	+	89	12852	c.12732C>T	c.(12730-12732)gcC>gcT	p.A4244A	RYR2_uc010pya.2_Silent_p.A659A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4244					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L4243M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGGTCGGCCCTGTTTGCGC	0.502000														15			14		0	0	0.002450	0	0
NAV3	89795	broad.mit.edu	37	12	78562597	78562597	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:78562597C>T	uc001syp.3	+	23	5105	c.4932C>T	c.(4930-4932)gcC>gcT	p.A1644A	NAV3_uc001syo.3_Silent_p.A1644A|NAV3_uc010sub.2_Silent_p.A1130A|NAV3_uc009zsf.3_Silent_p.A475A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1644						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTCTGCTGCCCAGGCGGCTA	0.403000										HNSCC(70;0.22)				15			8		0	0	0.003080	0	0
MGAT3	4248	broad.mit.edu	37	22	39884653	39884653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:39884653C>T	uc003axv.4	+	1	1540	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	MGAT3_uc010gxy.3_Missense_Mutation_p.S434F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	434					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AAGCTCGTGTCCGCCCAGAAT	0.662000														219			155		0	0	0.003610	0	0
MYBL1	4603	broad.mit.edu	37	8	67511375	67511375	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:67511375A>T	uc003xwj.3	-	3	608	c.201T>A	c.(199-201)aaT>aaA	p.N67K	MYBL1_uc003xwl.3_Missense_Mutation_p.N67K|MYBL1_uc003xwk.3_Missense_Mutation_p.N67K	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	67	HTH myb-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AATCAGAGCGATTCTGAAAAA	0.368000														23			11		0	0	0.008291	0	0
SZT2	23334	broad.mit.edu	37	1	43855557	43855557	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:43855557C>T	uc001cjk.2	+	1	1	c.-2609_splice	c.e1-1		MED8_uc001cje.1_5'Flank|MED8_uc001cjg.4_5'Flank|MED8_uc001cjf.4_5'Flank|SZT2_uc001cjh.3_Splice_Site|SZT2_uc001cji.1_Splice_Site|SZT2_uc009vws.1_Splice_Site	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCGGTTCCTGCTGGGTG	0.627000														177			109		0	0	0.003610	0	0
SPATS1	221409	broad.mit.edu	37	6	44320496	44320496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:44320496G>A	uc021yzz.1	+	2	274	c.173G>A	c.(172-174)gGa>gAa	p.G58E	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Splice_Site|SPATS1_uc003oxk.3_Missense_Mutation_p.G58E	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	58										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAATCTAAGGGATGTTTTGCC	0.433000														102			70		0	0	0.003610	0	0
PI15	51050	broad.mit.edu	37	8	75756225	75756225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:75756225G>A	uc003yal.3	+	2	462	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.E95K	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	95						extracellular region	peptidase inhibitor activity	p.D94Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGTTTGGGATGAAAATCTTGC	0.403000														92			37		0	0	0.005524	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887131	62887131	+	Missense_Mutation	SNP	G	A	A	rs140624162		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:62887131G>A	uc003peg.2	-	1	425	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.L60F(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTTTCTGAGAGCTTTATGTTT	0.328000														10			4		0	0	0.001168	0	0
KPNA3	3839	broad.mit.edu	37	13	50296188	50296188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:50296188G>A	uc001vdj.2	-	8	1044	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	210	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GGGGATGGAGGGACTGATGAA	0.448000														186			134		0	0	0.003610	0	0
C1orf173	127254	broad.mit.edu	37	1	75086427	75086427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:75086427G>A	uc001dgg.3	-	7	1210	c.991C>T	c.(991-993)Ctt>Ttt	p.L331F	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.L125F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	331								p.L330L(1)|p.L330P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTTTTCAAGTAGTTTGCCT	0.353000														66			34		0	0	0.003755	0	0
SMARCA4	6597	broad.mit.edu	37	19	11118581	11118581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11118581G>A	uc010dxp.3	+	14	2365	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	SMARCA4_uc010dxo.3_Missense_Mutation_p.E669K|SMARCA4_uc002mqf.4_Missense_Mutation_p.E669K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E669K|SMARCA4_uc010dxq.3_Missense_Mutation_p.E669K|SMARCA4_uc010dxr.3_Missense_Mutation_p.E669K|SMARCA4_uc002mqj.4_Missense_Mutation_p.E669K|SMARCA4_uc010dxs.3_Missense_Mutation_p.E669K	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	669	Poly-Glu.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGGTAGGAGGAGGAGGAAGA	0.582000			"""F, N, Mis"""		NSCLC									194			96		0	0	0.003610	0	0
SMEK1	55671	broad.mit.edu	37	14	91927794	91927794	+	Silent	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:91927794G>T	uc001xzn.3	-	13	3144	c.2322C>A	c.(2320-2322)tcC>tcA	p.S774S	SMEK1_uc001xzm.3_Silent_p.S761S|SMEK1_uc001xzo.3_Silent_p.S761S|SMEK1_uc010atz.3_Silent_p.S535S	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	774						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GAGATCCTGGGGATCCAGGTG	0.498000														189			127		1.49884e-55	2.20632e-55	0.003610	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735136	55735136	+	Silent	SNP	G	A	A	rs144396433		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55735136G>A	uc010rit.2	-	0	804	c.804C>T	c.(802-804)ttC>ttT	p.F268F		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAATGGTGTAGAAAAGAGAAA	0.343000														70			18		0	0	0.004990	0	0
XIRP2	129446	broad.mit.edu	37	2	168067285	168067285	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:168067285A>C	uc002udx.3	+	3	692	c.603A>C	c.(601-603)gaA>gaC	p.E201D	XIRP2_uc010fpn.3_Missense_Mutation_p.E234D|XIRP2_uc010fpo.3_Missense_Mutation_p.E201D|XIRP2_uc002udy.3_Missense_Mutation_p.E26D|XIRP2_uc010fpq.3_5'UTR|XIRP2_uc010fpr.3_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	26					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATTTGCAGAAGACAGTGCTG	0.532000														281			186		0	0	0.003610	0	0
LIG1	3978	broad.mit.edu	37	19	48643362	48643362	+	Missense_Mutation	SNP	G	A	A	rs111507847		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:48643362G>A	uc002pia.1	-	11	1073	c.953C>T	c.(952-954)tCc>tTc	p.S318F	LIG1_uc010xze.1_Missense_Mutation_p.S11F|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.S250F|LIG1_uc010xzg.1_Missense_Mutation_p.S287F|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	318					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGCCACCACGGAGCGCAGCAA	0.642000								Nucleotide excision repair (NER)						309			170		0	0	0.003610	0	0
TADA3	10474	broad.mit.edu	37	3	9833128	9833129	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:9833128_9833129GG>AA	uc003bsx.1	-	1	570_571	c.22_23CC>TT	c.(22-24)ccc>TTc	p.P8F	TADA3_uc010hcn.1_Missense_Mutation_p.P8F|TADA3_uc003bsy.3_Missense_Mutation_p.P8F|TTLL3_uc003btb.2_5'Flank|TTLL3_uc003bta.2_5'Flank|TTLL3_uc003bsz.2_5'Flank|TTLL3_uc003btd.4_5'Flank|TTLL3_uc003btc.2_5'Flank|TTLL3_uc021wsu.1_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	8					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GAACTGCAAGGGGCAGTCTTTC	0.564000														202			80		0	0	0.004672	0	0
GTF2F2	2963	broad.mit.edu	37	13	45841479	45841479	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:45841479A>C	uc001uzw.3	+	6	758	c.598A>C	c.(598-600)Aag>Cag	p.K200Q		NM_004128	NP_004119	P13984	T2FB_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 2, 30kDa (GTF2F2), mRNA.	200					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		CTATAATCTTAAGGACTTGGT	0.373000														114			59		0	0	0.003610	0	0
RNASE4	6038	broad.mit.edu	37	14	21167603	21167603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:21167603C>T	uc021rol.1	+	0	73	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	RNASE4_uc001vxy.4_Missense_Mutation_p.P25S|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.P25S	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	25					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GCTGGTCCAGCCCTCCTATGG	0.557000														360			210		0	0	0.003610	0	0
FAM75C2	645961	broad.mit.edu	37	9	90745999	90745999	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:90745999C>T	uc011lti.2	-	3	1982	c.1953G>A	c.(1951-1953)gtG>gtA	p.V651V		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	651																	CCCAAAACCTCACAATATGGG	0.532000														219			322		0	0	0.003610	0	0
KCNH7	90134	broad.mit.edu	37	2	163393558	163393558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:163393558G>A	uc002uch.2	-	2	569	c.340C>T	c.(340-342)Cca>Tca	p.P114S	KCNH7_uc002uci.3_Missense_Mutation_p.P114S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	114	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTTTCACTGGAATTATGTGA	0.353000														35			27		0	0	0.004656	0	0
CIITA	4261	broad.mit.edu	37	16	11001684	11001684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:11001684G>A	uc002daj.4	+	10	2471	c.2338G>A	c.(2338-2340)Gct>Act	p.A780T	CIITA_uc002dai.4_Missense_Mutation_p.A779T|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A779T|CIITA_uc002dah.2_Missense_Mutation_p.A731T|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	779					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCCATCGGCGGCTGCCTCGGT	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									410			263		0	0	0.003610	0	0
KIAA1211	57482	broad.mit.edu	37	4	57189571	57189571	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:57189571C>T	uc003hbk.2	+	8	3607	c.3216C>T	c.(3214-3216)tcC>tcT	p.S1072S	KIAA1211_uc010iha.2_Silent_p.S1065S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1072										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCAGACACTCCTTAGATGGCT	0.498000														262			64		0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7528442	7528443	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:7528442_7528443CC>TT	uc010sge.2	-	9	2595_2596	c.2569_2570GG>AA	c.(2569-2571)gga>AAa	p.G857K	CD163L1_uc001qsy.3_Missense_Mutation_p.G847K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	847	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.G847V(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAGTGATCTCCCACAGAAAGA	0.460000														88			82		0	0	0.004672	0	0
TMEM237	65062	broad.mit.edu	37	2	202501564	202501564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:202501564G>A	uc021vvg.1	-	4	282	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	TMEM237_uc021vvd.1_5'UTR|TMEM237_uc021vve.1_Missense_Mutation_p.P53S|TMEM237_uc021vvf.1_5'UTR|TMEM237_uc010zhp.1_Non-coding_Transcript	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	85						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CCCTCAGAGGGCCTTCGACCA	0.443000														81			48		0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104149490	104149490	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:104149490C>T	uc001tjw.3	+	62	7167	c.6981C>T	c.(6979-6981)ttC>ttT	p.F2327F	STAB2_uc009zug.3_Intron	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2327	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCACAAACTTCCTGACGGTAT	0.547000														79			86		0	0	0.003610	0	0
ANKRD26P3	100101938	broad.mit.edu	37	13	19868694	19868694	+	RNA	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:19868694C>T	uc010tck.2	-	12		c.1934G>A								Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA.																		ATTCCTTTTCCTTCGAGCCAG	0.368000														13			10		0	0	0.008291	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324599	86324599	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:86324599G>A	uc003pla.2	-	10	2288	c.1747C>T	c.(1747-1749)Cag>Tag	p.Q583*	SYNCRIP_uc003pku.3_Intron|SYNCRIP_uc003pkv.3_Intron|SYNCRIP_uc003pkw.3_Intron|SYNCRIP_uc003pkx.3_Intron|SYNCRIP_uc003pky.3_Intron|SYNCRIP_uc003pkz.2_Nonsense_Mutation_p.Q548*	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	583					CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCCCAGTTCTGATTATTGGTC	0.527000														125			215		0	0	0.003610	0	0
IL7R	3575	broad.mit.edu	37	5	35876323	35876323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:35876323G>A	uc003jjs.3	+	7	1204	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	372					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGCCTGGCTGGGAATGTCAGT	0.552000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							51			7		0	0	0.003080	0	0
RIPK4	54101	broad.mit.edu	37	21	43187172	43187172	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:43187172G>A	uc002yzn.1	-	0	78	c.30C>T	c.(28-30)gcC>gcT	p.A10A		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	10						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCAGCGCCAGGGCCCATGGGG	0.721000														48			82		0	0	0.003610	0	0
COL18A1	80781	broad.mit.edu	37	21	46912603	46912603	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:46912603C>T	uc002zhi.3	+	22	2751	c.2730C>T	c.(2728-2730)ggC>ggT	p.G910G	COL18A1_uc002zhg.3_Silent_p.G730G	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1145	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TTCCCCAGGGCCGGCCGGGTT	0.701000														175			352		0	0	0.003610	0	0
DUSP15	128853	broad.mit.edu	37	20	30450449	30450449	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:30450449G>A	uc002wwu.1	-	5	428	c.351C>T	c.(349-351)gcC>gcT	p.A117A	DUSP15_uc002wwv.1_Silent_p.A17A|DUSP15_uc002www.1_Silent_p.A17A|DUSP15_uc002wwx.1_Silent_p.A120A			Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	117	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGGCCTGGTGGCCTTGATGG	0.602000														517			286		0	0	0.003610	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601355	46601355	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:46601355C>T	uc009zkj.1	-	6	1123	c.438G>A	c.(436-438)ggG>ggA	p.G146G	SLC38A1_uc001rpb.3_Silent_p.G146G|SLC38A1_uc001rpc.3_Silent_p.G146G|SLC38A1_uc001rpd.3_Silent_p.G146G|SLC38A1_uc001rpe.3_Silent_p.G146G|SLC38A1_uc010slh.2_Silent_p.G119G|SLC38A1_uc001rpa.3_Silent_p.G146G	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	146					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.G146E(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTACGAACTTCCCTGTGGTGC	0.408000														34			23		0	0	0.005443	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245413	84245413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:84245413G>A	uc002bjw.3	+	5	739	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	SH3GL3_uc010uot.1_Missense_Mutation_p.E182K|SH3GL3_uc002bjx.3_Missense_Mutation_p.E113K|SH3GL3_uc002bju.3_Missense_Mutation_p.E190K|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	182	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.R182L(2)|p.R182*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ACCAGACGAAGAAGTCAGACA	0.373000														32			25		0	0	0.003330	0	0
SH3D19	152503	broad.mit.edu	37	4	152053519	152053519	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:152053519C>T	uc010ipl.1	-	17	3025	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	SH3D19_uc003imb.2_Silent_p.L400L|SH3D19_uc003imc.2_Silent_p.L586L|SH3D19_uc003ime.2_Silent_p.L622L|SH3D19_uc010ipm.2_Silent_p.L622L	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	645					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTTGGTTTTCAGTGGTACCT	0.383000														14			67		0	0	0.003610	0	0
GBP4	115361	broad.mit.edu	37	1	89655736	89655736	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:89655736G>A	uc001dnb.3	-	6	1298	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	394						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCTTCTTCTGGAATTCATGGT	0.478000														102			71		0	0	0.003610	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328412	88328412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:88328412G>A	uc001vln.3	+	1	988	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	SLITRK5_uc010tic.1_Intron|SLITRK5_uc021rlc.1_Missense_Mutation_p.A257T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	257	LRRCT 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTCCTATTCAGCCCTGGTGGG	0.493000														545			357		0	0	0.003610	0	0
DLK1	8788	broad.mit.edu	37	14	101194759	101194759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:101194759C>T	uc001yhs.4	+	1	298	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	DLK1_uc001yhu.4_Missense_Mutation_p.P32S	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	32	EGF-like 1.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GGCCTGCAACCCCCAAAATGG	0.562000														326			178		0	0	0.003610	0	0
SOX14	8403	broad.mit.edu	37	3	137483785	137483785	+	Silent	SNP	G	A	A	rs145435950		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:137483785G>A	uc003erm.2	+	0	652	c.159G>A	c.(157-159)gaG>gaA	p.E53E		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	53					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCGAGGCAGAGAAGCGGCCAT	0.602000														340			74		0	0	0.003610	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69096993	69096993	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:69096993T>C	uc003hdw.4	-	6	750	c.614A>G	c.(613-615)aAa>aGa	p.K205R		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	205	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GTGACGGCCTTTCCATTGCAT	0.478000														78			20		0	0	0.007413	0	0
ASXL3	80816	broad.mit.edu	37	18	31320151	31320151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:31320151G>A	uc010dmg.1	+	10	2838	c.2783G>A	c.(2782-2784)gGg>gAg	p.G928E	ASXL3_uc002kxq.2_Missense_Mutation_p.G635E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATAAGCAAGGGAGTACACAG	0.403000														106			67		0	0	0.003610	0	0
FAM129A	116496	broad.mit.edu	37	1	184801032	184801032	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:184801032C>T	uc001gra.3	-	5	860	c.666G>A	c.(664-666)caG>caA	p.Q222Q	FAM129A_uc001grb.1_Silent_p.Q20Q|FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Silent_p.Q20Q	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	222					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.R221Q(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GACCCTTCTCCTGTCGGAAGA	0.408000														107			40		0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108117529	108117529	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:108117529T>G	uc003dxa.1	-	35	5205	c.5148A>C	c.(5146-5148)gaA>gaC	p.E1716D		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1716						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCAGGAGCTCTTCTTCTGACA	0.527000														132			81		0	0	0.003610	0	0
OR51A2	401667	broad.mit.edu	37	11	4976213	4976213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4976213G>A	uc010qyt.2	-	0	731	c.731C>T	c.(730-732)tCa>tTa	p.S244L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGTGAAACACAAGT	0.478000														192			35		0	0	0.004289	0	0
CYLC2	1539	broad.mit.edu	37	9	105767118	105767118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:105767118G>A	uc004bbs.2	+	3	392	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	108	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.V107V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGTCGAGGTGGATTCTAAAGC	0.363000														21			16		0	0	0.007413	0	0
BYSL	705	broad.mit.edu	37	6	41897973	41897973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41897973C>T	uc003orl.3	+	2	871	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	179					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGCTGGACCCCCGGGTCCT	0.612000														206			121		0	0	0.003610	0	0
F13B	2165	broad.mit.edu	37	1	197029555	197029555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:197029555C>T	uc001gtt.1	-	4	790	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	249	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAAATCAGATCCACTTAGATA	0.308000														26			32		0	0	0.003755	0	0
FAT1	2195	broad.mit.edu	37	4	187525728	187525728	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:187525728C>T	uc003izf.3	-	18	10539	c.10351_splice	c.e18-1	p.E3451_splice		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3451	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCTTATTTTCCTGCACAAGA	0.378000										HNSCC(5;0.00058)				13			47		0	0	0.003214	0	0
AXL	558	broad.mit.edu	37	19	41765525	41765525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41765525G>A	uc010ehj.3	+	19	2591	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	HNRNPUL1_uc002opz.4_5'Flank|HNRNPUL1_uc002oqa.4_5'Flank|AXL_uc010ehk.3_Missense_Mutation_p.E792K	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	801	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGAGCTGCGGGAAGATTTGGA	0.552000														314			162		0	0	0.003610	0	0
PRDM15	63977	broad.mit.edu	37	21	43256640	43256640	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:43256640A>C	uc002yzq.1	-	15	2329	c.2218T>G	c.(2218-2220)Tgc>Ggc	p.C740G	PRDM15_uc002yzo.3_Missense_Mutation_p.C411G|PRDM15_uc002yzp.3_Missense_Mutation_p.C411G|PRDM15_uc002yzr.1_Missense_Mutation_p.C411G	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CAGATATTGCACTGGTAAACC	0.597000														233			394		0	0	0.003610	0	0
CLCC1	23155	broad.mit.edu	37	1	109477531	109477531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:109477531C>T	uc021ora.1	-	9	1428	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.E423K|CLCC1_uc001dwf.1_Missense_Mutation_p.E473K|CLCC1_uc009wes.1_Missense_Mutation_p.E352K|CLCC1_uc009wet.1_Missense_Mutation_p.E288K	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	473						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCACCTGTCTCCTTGGGCTTT	0.418000														562			373		0	0	0.003610	0	0
COMT	1312	broad.mit.edu	37	22	19951785	19951785	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:19951785G>A	uc002zqu.3	+	4	827	c.578G>A	c.(577-579)tGg>tAg	p.W193*	COMT_uc011ahd.2_Nonsense_Mutation_p.W193*|COMT_uc002zqx.3_Nonsense_Mutation_p.W143*|COMT_uc021wlm.1_Nonsense_Mutation_p.W193*	NM_000754	NP_009294	P21964	COMT_HUMAN	Homo sapiens catechol-O-methyltransferase (COMT), transcript variant 1, mRNA.	193					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CTCGACCACTGGAAGGACCGG	0.587000														395			249		0	0	0.003610	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373394	86373394	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:86373394C>T	uc010sum.2	-	5	1341	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	MGAT4C_uc001tal.4_Silent_p.G370G|MGAT4C_uc001taj.4_Silent_p.G370G|MGAT4C_uc001tak.4_Silent_p.G370G|MGAT4C_uc001tai.4_Silent_p.G370G|MGAT4C_uc001tah.4_Silent_p.G370G	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	370					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAGGTGGTTTCCCCCAAAAGT	0.353000														28			11		0	0	0.008291	0	0
ODZ4	26011	broad.mit.edu	37	11	78387371	78387371	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:78387371G>C	uc001ozl.4	-	29	5785	c.5322C>G	c.(5320-5322)aaC>aaG	p.N1774K	ODZ4_uc001ozk.4_5'UTR	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1774					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCTCCATGCCGTTGGCCAGCA	0.632000														162			134		0	0	0.003610	0	0
AGFG1	3267	broad.mit.edu	37	2	228389553	228389553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:228389553G>A	uc002vpc.2	+	4	866	c.616G>A	c.(616-618)Gac>Aac	p.D206N	AGFG1_uc002vpd.2_Missense_Mutation_p.D206N|AGFG1_uc002vpe.2_Missense_Mutation_p.D206N|AGFG1_uc002vpf.2_Missense_Mutation_p.D206N	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	206					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTCGGCTCAGACATCTTTGC	0.438000														43			24		0	0	0.003330	0	0
TNIP2	79155	broad.mit.edu	37	4	2747233	2747233	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:2747233G>A	uc003gfg.2	-	2	684	c.597C>T	c.(595-597)gtC>gtT	p.V199V	TNIP2_uc003gff.2_Silent_p.V92V	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	199						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAACACTCTGGACAGAGGTGT	0.473000														153			208		0	0	0.003610	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904125	21904125	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:21904125G>A	uc002gza.2	+	0		c.64G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ggagtcgcaaggggccgagca	0.697000														310			9		0	0	0.000978	0	0
CASKIN1	57524	broad.mit.edu	37	16	2234978	2234978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2234978G>A	uc010bsg.1	-	12	1330	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	433	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGGCTTGGCGGGGCTGTCCCC	0.662000														422			294		0	0	0.003610	0	0
PRRG3	79057	broad.mit.edu	37	X	150869277	150869278	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:150869277_150869278GG>AT	uc022cgt.1	+	3	517_518	c.468_469GG>AT	c.(466-471)caggtg>caATtg	p.V157L	PRRG3_uc004few.2_Missense_Mutation_p.V157L	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	157						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCCCCCAGGTGGTGCTGGG	0.683000														58			109		0	0	0.004672	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993989	143993989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:143993989C>T	uc003yxk.1	-	7	1358	c.1355G>A	c.(1354-1356)gGg>gAg	p.G452E		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	452					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CAGGCGCCGCCCGAGGCACTG	0.682000									Familial Hyperaldosteronism type I					402			199		0	0	0.003610	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389649	6389649	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:6389649C>T	uc002meq.2	-	4	418	c.133_splice	c.e4-1	p.A45_splice	GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Splice_Site_p.A17_splice	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	45					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CCAGCCGAGCCTAGGGGAGCA	0.607000														443			296		0	0	0.003610	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15126324	15126324	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:15126324G>A	uc003bzm.1	-	7	1130	c.516C>T	c.(514-516)atC>atT	p.I172I	ZFYVE20_uc010hek.1_Silent_p.I172I|ZFYVE20_uc011avn.1_Silent_p.I172I	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	172	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGCGGTTCCGGATGCTGAACT	0.532000														170			118		0	0	0.003610	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978338	10978338	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:10978338C>A	uc001qyy.1	-	0	531	c.531G>T	c.(529-531)ttG>ttT	p.L177F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	177					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCAGATTTAGCAAAATCTGTT	0.323000														25			13		5.50884e-06	8.0078e-06	0.001368	1	0
EFCAB6	64800	broad.mit.edu	37	22	43950818	43950818	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:43950818C>T	uc003bdy.2	-	26	3893	c.3579G>A	c.(3577-3579)acG>acA	p.T1193T	EFCAB6_uc003bdz.2_Silent_p.T1041T|EFCAB6_uc010gzi.2_Silent_p.T1041T|EFCAB6_uc010gzj.1_Silent_p.T419T	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1193	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.T1193T(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGATGGTGTTCGTTTTCATGG	0.522000														448			288		0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26159234	26159234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:26159234C>T	uc003abz.1	+	2	326	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	26						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						ACCATCCTCGCCCCCTCCTCT	0.547000														96			76		0	0	0.003610	0	0
COL8A1	1295	broad.mit.edu	37	3	99513113	99513113	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:99513113G>T	uc003dti.1	+	2	499	c.371G>T	c.(370-372)cGt>cTt	p.R124L	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.R123L|COL8A1_uc003dth.1_Missense_Mutation_p.R123L	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	123	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAAGGTCCCCGTGGAGAGCCT	0.532000														74			48		2.12129e-23	3.10896e-23	0.003610	1	0
ODZ4	26011	broad.mit.edu	37	11	78443510	78443510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:78443510C>T	uc001ozl.4	-	20	3452	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	997					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATGATGGTTTCCATGACAAAG	0.552000														26			19		0	0	0.006122	0	0
ZNF749	388567	broad.mit.edu	37	19	57955633	57955633	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:57955633C>T	uc002qoq.2	+	2	1371	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CGGTAGACATCAGAGAGTTCA	0.453000														259			153		0	0	0.003610	0	0
OR5K4	403278	broad.mit.edu	37	3	98073395	98073395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:98073395G>A	uc011bgv.2	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCCAAGGAGGGAAGAGGTAAA	0.353000														31			19		0	0	0.006122	0	0
NKX6-1	4825	broad.mit.edu	37	4	85416877	85416877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:85416877G>A	uc003hpa.1	-	1	797	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_006168	NP_006159	P78426	NKX61_HUMAN	Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.	264	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		p.G263R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		AGCCCTCTCGGGCCCCGCCAA	0.547000														640			148		0	0	0.003610	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16058884	16058884	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16058884T>C	uc010obo.2	+	17	2892	c.2665T>C	c.(2665-2667)Tgc>Cgc	p.C889R		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	889					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCATACCCTGCTGCCTGGT	0.652000														71			4		0	0	0.009096	0	0
WNT7A	7476	broad.mit.edu	37	3	13896034	13896034	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:13896034G>A	uc003bye.1	-	2	870	c.565C>T	c.(565-567)Cga>Tga	p.R189*		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	189					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCTACCTTTCGGCCTGCCTCG	0.587000														525			319		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82583374	82583374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82583374C>T	uc003uhx.2	-	4	7184	c.6895G>A	c.(6895-6897)Gac>Aac	p.D2299N	PCLO_uc003uhv.2_Missense_Mutation_p.D2299N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2230					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						TTCACTGGGTCCTTTTCAGAT	0.408000														86			66		0	0	0.003610	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158970589	158970589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:158970589G>A	uc003fcq.2	+	2	329	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	IQCJ-SCHIP1_uc003fcr.2_Intron|IQCJ-SCHIP1_uc003fco.3_Missense_Mutation_p.V50M|IQCJ-SCHIP1_uc003fcp.2_Missense_Mutation_p.V50M|IQCJ-SCHIP1_uc010hvy.2_Intron	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GGAATCAAAGGTGAAAATGTA	0.338000														23			4		0	0	0.009096	0	0
MYOCD	93649	broad.mit.edu	37	17	12661487	12661487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:12661487C>T	uc002gno.2	+	11	2587	c.2288C>T	c.(2287-2289)tCa>tTa	p.S763L	MYOCD_uc002gnn.2_Missense_Mutation_p.S715L|MYOCD_uc002gnp.1_Missense_Mutation_p.S667L|MYOCD_uc002gnq.2_Intron	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	715					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCAGCAATTTCAGAGGTAACA	0.408000														22			32		0	0	0.002445	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720043	50720043	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:50720043G>A	uc003bkv.4	-	20	3567	c.3474C>T	c.(3472-3474)ccC>ccT	p.P1158P	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.P143P	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1158					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGCCGCTTGGGCGGGGGCT	0.692000														382			219		0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104033936	104033936	+	Silent	SNP	C	T	T	rs144975292		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:104033936C>T	uc001tjw.3	+	8	1128	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	314					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.F314F(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAGAATTTCGTACCTGGAG	0.448000														256			221		0	0	0.003610	0	0
ITGA5	3678	broad.mit.edu	37	12	54799016	54799016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:54799016C>T	uc001sga.3	-	11	1227	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	387					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCAAACTCATCATGGCCAGTG	0.627000														222			230		0	0	0.003610	0	0
DEM1	64789	broad.mit.edu	37	1	40980611	40980611	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:40980611T>G	uc001cfp.3	+	2	600	c.395T>G	c.(394-396)gTg>gGg	p.V132G	DEM1_uc001cfq.3_Missense_Mutation_p.V132G|DEM1_uc001cfr.3_Missense_Mutation_p.V132G|DEM1_uc021omb.1_Missense_Mutation_p.V132G	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	132							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						CATGATCTTGTGACTGTCCCA	0.483000														300			160		0	0	0.003610	0	0
IKZF1	10320	broad.mit.edu	37	7	50367321	50367321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:50367321G>A	uc003tow.4	+	2	283	c.128G>A	c.(127-129)gGa>gAa	p.G43E	IKZF1_uc022acq.1_Missense_Mutation_p.G43E|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.G43E|IKZF1_uc022acu.1_Missense_Mutation_p.G43E|IKZF1_uc003tox.4_Missense_Mutation_p.G43E|IKZF1_uc022acv.1_Missense_Mutation_p.G43E|IKZF1_uc022acw.1_Missense_Mutation_p.G43E|IKZF1_uc022acx.1_Missense_Mutation_p.G43E|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.G43E|IKZF1_uc003toy.4_Missense_Mutation_p.G43E|IKZF1_uc003toz.4_Missense_Mutation_p.G13E|IKZF1_uc010kyx.3_Missense_Mutation_p.G13E|IKZF1_uc003tov.1_Missense_Mutation_p.G43E	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	43					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(33)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCTCGGGAGGACAGCAAAGC	0.547000			"""D,T"""	BCL6	"""ALL, DLBCL"""									24			29		0	0	0.009535	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881413	111881414	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:111881413_111881414GG>AA	uc002tgv.1	+	1	379_380	c.91_92GG>AA	c.(91-93)ggg>AAg	p.G31K	BCL2L11_uc002tgt.1_Missense_Mutation_p.G31K|BCL2L11_uc021vmo.1_Missense_Mutation_p.G31K|BCL2L11_uc002tgu.1_Missense_Mutation_p.G31K|BCL2L11_uc002tgy.2_Missense_Mutation_p.G31K|BCL2L11_uc002thb.2_Missense_Mutation_p.G31K|BCL2L11_uc002tgx.2_Missense_Mutation_p.G31K|BCL2L11_uc021vmp.1_Missense_Mutation_p.G31K|BCL2L11_uc010fkd.2_Missense_Mutation_p.G31K|BCL2L11_uc002tgz.2_Missense_Mutation_p.G31K|BCL2L11_uc002thd.2_Missense_Mutation_p.G31K|BCL2L11_uc002tha.2_Missense_Mutation_p.G31K|BCL2L11_uc010fke.2_Missense_Mutation_p.G31K|BCL2L11_uc021vmq.1_Missense_Mutation_p.G31K|BCL2L11_uc002thc.2_Missense_Mutation_p.G31K|BCL2L11_uc021vmr.1_Missense_Mutation_p.G31K|BCL2L11_uc002tgw.2_Missense_Mutation_p.G31K|BCL2L11_uc021vms.1_Missense_Mutation_p.G31K	NM_138621	NP_619527	O43521	B2L11_HUMAN	Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA.	31					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GCTCAGACCTGGGGCCCCTACC	0.584000														374			208		0	0	0.004672	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929997	32929997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:32929997C>T	uc001zgy.1	+	11	3745	c.3023C>T	c.(3022-3024)cCt>cTt	p.P1008L	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.P819L|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.P819L	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	1008					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CCAAAACATCCTATCGGAAAA	0.353000														93			44		0	0	0.002522	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822030	93822030	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:93822030G>A	uc001pep.2	+	11	2347	c.2190G>A	c.(2188-2190)ggG>ggA	p.G730G	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	730					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCGGTACGGGATGATAAGAA	0.527000														181			136		0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51417591	51417591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:51417591C>T	uc011bds.2	+	51	5559	c.5536C>T	c.(5536-5538)Cct>Tct	p.P1846S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1846						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTTCCACCACCCTCTGGGTGA	0.602000														210			147		0	0	0.003610	0	0
PTENP1	11191	broad.mit.edu	37	9	33675973	33675973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:33675973G>A	uc003zth.4	-	0	1446	c.575C>T	c.(574-576)tCc>tTc	p.S192F						Homo sapiens phosphatase and tensin homolog pseudogene 1 (PTENP1), non-coding RNA.																		TGAATTGGAGGAATACATCTT	0.443000														389			218		0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90144634	90144634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:90144634G>A	uc003kju.3	+	78	17296	c.17200G>A	c.(17200-17202)Gaa>Aaa	p.E5734K	GPR98_uc003kjt.3_Missense_Mutation_p.E3440K|GPR98_uc003kjw.3_Missense_Mutation_p.E1395K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5734					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCTCCTGGTGAAAAGTAAGT	0.363000														187			183		0	0	0.003610	0	0
SORBS1	10580	broad.mit.edu	37	10	97096857	97096857	+	Silent	SNP	G	A	A	rs142455784		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:97096857G>A	uc001kkp.3	-	27	3105	c.3060C>T	c.(3058-3060)caC>caT	p.H1020H	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Silent_p.H974H|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1020					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ACAAGGCGAGGTGGTCAGTGT	0.597000														97			44		0	0	0.009718	0	0
SLC22A10	387775	broad.mit.edu	37	11	63067078	63067078	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:63067078G>A	uc009yor.3	+	5	1255	c.1047G>A	c.(1045-1047)agG>agA	p.R349R	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.R189R	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	349						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCGTAAAAGGATCTGTATCC	0.418000														7			15		0	0	0.004990	0	0
PCDH7	5099	broad.mit.edu	37	4	30724766	30724766	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:30724766G>A	uc003gsk.1	+	0	2730	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	PCDH7_uc011bxx.2_Silent_p.L574L|PCDH7_uc021xnd.1_Silent_p.L574L|PCDH7_uc021xnc.1_Silent_p.L574L	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	574	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCTACTCGCTGGACTCCTCTG	0.577000														157			214		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126411151	126411151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:126411151C>T	uc003ifj.4	+	16	13174	c.13174C>T	c.(13174-13176)Ccc>Tcc	p.P4392S	FAT4_uc011cgp.2_Missense_Mutation_p.P2633S|FAT4_uc003ifi.1_Missense_Mutation_p.P1869S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4392	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAAACAGATCCCTCAGTGAA	0.512000														528			121		0	0	0.003610	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151214646	151214646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151214646C>T	uc001exj.3	+	12	1863	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	PIP5K1A_uc021oyo.1_Missense_Mutation_p.R459W|PIP5K1A_uc001exi.3_Missense_Mutation_p.R458W|PIP5K1A_uc010pcu.2_Missense_Mutation_p.R431W|PIP5K1A_uc001exk.3_Intron|PIP5K1A_uc010pcv.2_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	471					phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.R471W(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTTTCTCTCGGCGAGCAGG	0.502000														619			244		0	0	0.003610	0	0
GPR116	221395	broad.mit.edu	37	6	46847631	46847631	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:46847631C>T	uc003oyo.3	-	8	1249	c.960G>A	c.(958-960)tcG>tcA	p.S320S	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Silent_p.S320S|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Silent_p.S320S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	320	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CGGTGTAAATCGAGAATCTGC	0.463000														44			24		0	0	0.003954	0	0
DNAH8	1769	broad.mit.edu	37	6	38885165	38885165	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:38885165T>G	uc021yzh.1	+	68	10400	c.10291T>G	c.(10291-10293)Tgg>Ggg	p.W3431G	DNAH8_uc003ooe.2_Missense_Mutation_p.W3214G|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAGCCATCATGGGGAGAGTC	0.388000														27			14		0	0	0.004007	0	0
ZNF454	285676	broad.mit.edu	37	5	178391739	178391739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:178391739G>A	uc003mjo.2	+	4	635	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	ZNF454_uc010jkz.2_Missense_Mutation_p.E112K|ZNF454_uc021yjc.1_Missense_Mutation_p.E112K	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GACAATAAAGGAAAGATTCAG	0.458000														28			45		0	0	0.003214	0	0
NLRP14	338323	broad.mit.edu	37	11	7064277	7064277	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:7064277C>T	uc001mfb.1	+	3	1343	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	340	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGTATATTTACCAGTTTTTTG	0.413000														57			15		0	0	0.004007	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019245	27019245	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:27019245C>T	uc003acz.4	+	2	122	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	29	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCACGAGTTCACGGCCGAGT	0.592000														271			160		0	0	0.003610	0	0
HAUS8	93323	broad.mit.edu	37	19	17163694	17163694	+	Silent	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17163694C>A	uc002nfe.3	-	9	981	c.870G>T	c.(868-870)gtG>gtT	p.V290V	HAUS8_uc002nff.3_Silent_p.V289V	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	290					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole		p.Q289H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GTAAGTCCAGCACCTGCACAT	0.532000											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		365			195		3.15268e-66	4.64306e-66	0.003610	1	0
COL22A1	169044	broad.mit.edu	37	8	139696699	139696699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:139696699G>A	uc003yvd.3	-	38	3428	c.2981C>T	c.(2980-2982)tCa>tTa	p.S994L	COL22A1_uc011ljo.2_Missense_Mutation_p.S294L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	994	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGTCCAGGTGATCCACGGAG	0.507000										HNSCC(7;0.00092)				176			78		0	0	0.003610	0	0
OR5L2	26338	broad.mit.edu	37	11	55594973	55594973	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55594973C>T	uc001nhy.1	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AAGCCATCTCCTTCCTAGGGT	0.458000										HNSCC(27;0.073)				73			12		0	0	0.001855	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229602	8229602	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:8229602G>A	uc003gkv.4	+	11	2282	c.2181G>A	c.(2179-2181)ctG>ctA	p.L727L	SH3TC1_uc003gkw.4_Silent_p.L651L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	727							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACCTGGTGCTGAGCTGTGTCA	0.667000														634			141		0	0	0.003610	0	0
SYCE1	93426	broad.mit.edu	37	10	135369180	135369180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:135369180C>T	uc001lno.2	-	10	856	c.751G>A	c.(751-753)Gag>Aag	p.E251K	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.E123K|SYCE1_uc009ybn.2_Missense_Mutation_p.E251K|SYCE1_uc001lnn.2_Missense_Mutation_p.E215K	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	251					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGGAGCTCCTCAGCCTTCCTG	0.652000														162			73		0	0	0.003610	0	0
DLL1	28514	broad.mit.edu	37	6	170594138	170594138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:170594138C>T	uc003qxm.3	-	7	1588	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	373	EGF-like 5.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AAAGCAAGGGCCGTCCGCACA	0.577000														111			215		0	0	0.003610	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547011	37547011	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:37547011G>A	uc002xje.3	+	10	1595	c.1406G>A	c.(1405-1407)tGg>tAg	p.W469*	PPP1R16B_uc010ggc.3_Nonsense_Mutation_p.W427*	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	469					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACCCCGCCCTGGAGCAGCTAC	0.637000														396			235		0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	30936358	30936358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:30936358C>T	uc002nsu.1	+	1	2027	c.1889C>T	c.(1888-1890)cCc>cTc	p.P630L	ZNF536_uc010edd.1_Missense_Mutation_p.P630L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGGAGAAGCCCACCGAGTGC	0.602000														612			267		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179596677	179596677	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179596677T>C	uc021vsy.1	-	54	13418	c.13193A>G	c.(13192-13194)gAa>gGa	p.E4398G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1059G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5325	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTTAAATTCCTTGGTAAA	0.443000														16			17		0	0	0.004990	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822465	103822465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:103822465C>T	uc003hww.3	-	11	1499	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	SLC9B1_uc003hwu.3_Intron|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Missense_Mutation_p.E226K	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	453						integral to membrane	solute:hydrogen antiporter activity										CTTGCTGTTTCTAGAGCCAGA	0.418000														311			13		0	0	0.006122	0	0
SP140L	93349	broad.mit.edu	37	2	231253283	231253283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:231253283G>A	uc010fxm.1	+	9	885	c.794G>A	c.(793-795)aGa>aAa	p.R265K	SP140L_uc010fxo.1_Missense_Mutation_p.R72K	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	265						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGGAGAAAGAGAGGCAAACCT	0.363000														9			3		0	0	0.009096	0	0
PACS1	55690	broad.mit.edu	37	11	66006668	66006668	+	Silent	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:66006668C>G	uc001oha.2	+	20	2483	c.2349C>G	c.(2347-2349)ccC>ccG	p.P783P	PACS1_uc010rou.2_Silent_p.P319P	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	783					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CATCACCACCCTCCAGCTCGG	0.632000														266			188		0	0	0.003610	0	0
MYO9A	4649	broad.mit.edu	37	15	72192297	72192297	+	Silent	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:72192297C>G	uc002atl.4	-	23	3674	c.3201G>C	c.(3199-3201)gtG>gtC	p.V1067V	MYO9A_uc010biq.3_Silent_p.V687V|MYO9A_uc002atn.1_Silent_p.V1048V|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1067	IQ 2.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATCCTTCTGCACAGCTGCAT	0.473000														33			3		0	0	0.004672	0	0
FAM179A	165186	broad.mit.edu	37	2	29240746	29240746	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:29240746G>A	uc010ezl.3	+	9	1635	c.1284G>A	c.(1282-1284)agG>agA	p.R428R	FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	428							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCATCCTGAGGAAGTGGGCCA	0.692000														118			67		0	0	0.003610	0	0
PEF1	553115	broad.mit.edu	37	1	32101024	32101024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:32101024G>A	uc001bth.2	-	1	497	c.124C>T	c.(124-126)Cct>Tct	p.P42S	PEF1_uc021okp.1_5'UTR|PEF1_uc021okq.1_Intron|PEF1_uc001bte.1_5'Flank|PEF1_uc010ogm.2_Missense_Mutation_p.P42S	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	42	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCACCACCAGGGGGTAGCCCA	0.647000														113			64		0	0	0.003610	0	0
WNT8B	7479	broad.mit.edu	37	10	102241672	102241672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:102241672G>A	uc001krb.3	+	4	485	c.371G>A	c.(370-372)gGa>gAa	p.G124E		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	124					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TTTCCAGGGGGACAAGGCTGG	0.607000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		210			150		0	0	0.003610	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887912	9887913	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:9887912_9887913GG>AA	uc002koi.4	+	1	1885_1886	c.1436_1437GG>AA	c.(1435-1437)tgg>tAA	p.W479*	TXNDC2_uc002koh.4_Nonsense_Mutation_p.W412*|TXNDC2_uc021ugx.1_Nonsense_Mutation_p.W412*	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	479	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCGGCCACGTGGTGTGGGCCCT	0.589000														60			28		0	0	0.004672	0	0
MORC1	27136	broad.mit.edu	37	3	108677820	108677820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:108677820C>T	uc003dxl.3	-	27	3034	c.2947G>A	c.(2947-2949)Gaa>Aaa	p.E983K	MORC1_uc011bhn.2_Missense_Mutation_p.E962K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	983					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E983D(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACTTAATTTTCCGaagtcttt	0.259000														13			4		0	0	0.009096	0	0
ZNF607	84775	broad.mit.edu	37	19	38190356	38190356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:38190356C>T	uc002ohc.2	-	4	1272	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	ZNF607_uc002ohb.2_Missense_Mutation_p.E225K	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCCTTACATTCGTAGGGTTTC	0.418000														234			120		0	0	0.003610	0	0
FAM131B	9715	broad.mit.edu	37	7	143053858	143053858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:143053858C>T	uc010lpa.3	-	6	1012	c.868G>A	c.(868-870)Ggg>Agg	p.G290R	FAM131B_uc010loz.3_Missense_Mutation_p.G230R|FAM131B_uc003wct.3_Missense_Mutation_p.G262R|FAM131B_uc003wcu.4_Missense_Mutation_p.G262R	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	262										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCGCCTACCCCCGGAGCCCAG	0.622000														548			356		0	0	0.003610	0	0
WDR33	55339	broad.mit.edu	37	2	128467377	128467377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:128467377C>T	uc002tpg.2	-	18	3561	c.3362G>A	c.(3361-3363)aGg>aAg	p.R1121K		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1121					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAAACCATCCCTTCCTCTGGG	0.557000														606			314		0	0	0.003610	0	0
NLRP5	126206	broad.mit.edu	37	19	56539571	56539571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56539571C>T	uc002qmj.3	+	6	1972	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S	NLRP5_uc002qmi.3_Missense_Mutation_p.P639S	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	658						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTCCCGTTCCCCTGGGGGT	0.587000														343			196		0	0	0.003610	0	0
TRPC6	7225	broad.mit.edu	37	11	101375371	101375371	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:101375371T>C	uc001pgk.4	-	1	754	c.329A>G	c.(328-330)aAc>aGc	p.N110S	TRPC6_uc009ywy.3_Missense_Mutation_p.N110S|TRPC6_uc009ywz.1_Missense_Mutation_p.N110S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	110					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)		CACTGGGATGTTACCATATTC	0.468000														53			34		0	0	0.002445	0	0
MYO16	23026	broad.mit.edu	37	13	109518583	109518583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:109518583C>T	uc010agk.2	+	11	2040	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	MYO16_uc001vqt.1_Missense_Mutation_p.S451F|MYO16_uc001vqu.1_Missense_Mutation_p.S251F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	451	Myosin head-like 1.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAATTTATTCTTCCATGGTG	0.308000														165			111		0	0	0.003610	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8431098	8431098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8431098G>A	uc002mjq.1	+	2	637	c.442G>A	c.(442-444)Gac>Aac	p.D148N	ANGPTL4_uc002mjr.1_Missense_Mutation_p.D148N|ANGPTL4_uc010xkc.1_5'UTR	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	148					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TGGCCTCCTGGACCACAAGCA	0.637000														476			236		0	0	0.003610	0	0
EPHB2	2048	broad.mit.edu	37	1	23236991	23236991	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:23236991C>T	uc009vqj.1	+	13	2764	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	EPHB2_uc001bge.3_Silent_p.F874F|EPHB2_uc001bgf.3_Silent_p.F873F|EPHB2_uc010odu.2_Silent_p.F815F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	873	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGCCCAAGTTCGGCCAAATTG	0.622000														255			139		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3047537	3047537	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:3047537G>A	uc022aqr.1	-	33	5685	c.5295C>T	c.(5293-5295)ttC>ttT	p.F1765F	CSMD1_uc011kwj.2_Silent_p.F1158F|CSMD1_uc003wqe.3_Silent_p.F922F|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1766	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTGCACTCGAATCGGACGA	0.597000														26			10		0	0	0.008291	0	0
KAZN	23254	broad.mit.edu	37	1	15386692	15386692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:15386692C>T	uc001avm.4	+	5	1222	c.941C>T	c.(940-942)tCc>tTc	p.S314F	KAZN_uc009vog.1_Missense_Mutation_p.S314F|KAZN_uc001avo.2_Missense_Mutation_p.S308F|KAZN_uc001avp.2_Missense_Mutation_p.S220F|KAZN_uc001avq.2_Missense_Mutation_p.S220F|KAZN_uc001avr.2_Missense_Mutation_p.S217F	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	314	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCCTGCCACTCCCGGCAGCCC	0.647000														434			304		0	0	0.003610	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291749	141291749	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:141291749A>T	uc022cfj.1	-	0	25	c.25T>A	c.(25-27)Ttc>Atc	p.F9I	MAGEC2_uc004fbu.2_Missense_Mutation_p.F9I	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	9						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACGTTGCGGAATGGAACGCCT	0.537000										HNSCC(46;0.14)				101			240		0	0	0.003610	0	0
CUX1	1523	broad.mit.edu	37	7	101918603	101918603	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:101918603C>T	uc003uyt.3	+	16	1663	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	CUX1_uc003uyw.3_Silent_p.F466F|CUX1_uc003uyv.3_Silent_p.F496F|CUX1_uc003uyu.3_Silent_p.F510F|CUX1_uc011kkn.2_Silent_p.F473F	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	324					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGGAGCGCTTCCGTGCCCGGA	0.612000														287			190		0	0	0.003610	0	0
ACSM5	54988	broad.mit.edu	37	16	20422920	20422920	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:20422920C>T	uc002dhe.3	+	1	261	c.114C>T	c.(112-114)acC>acT	p.T38T	ACSM5_uc002dhd.1_Silent_p.T38T	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	38					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCGTGGCCACCTGGGAAGCCA	0.577000														53			34		0	0	0.002445	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599099	136599099	+	Missense_Mutation	SNP	G	A	A	rs57380832		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:136599099G>A	uc003qgx.1	-	3	1173	c.920C>T	c.(919-921)cCa>cTa	p.P307L	BCLAF1_uc003qgy.1_Missense_Mutation_p.P305L|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.P305L|BCLAF1_uc003qgw.1_Missense_Mutation_p.P307L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	307					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGCATTCTGTGGTGCGATTGT	0.448000														49			57		0	0	0.003610	0	0
FANCG	2189	broad.mit.edu	37	9	35077033	35077033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:35077033C>T	uc003zwb.1	-	5	1204	c.712G>A	c.(712-714)Ggc>Agc	p.G238S	FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.G238S	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	238					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGACACAGGCCTGAGGCCGCT	0.577000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						450			275		0	0	0.003610	0	0
MYO1H	283446	broad.mit.edu	37	12	109881337	109881337	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:109881337A>T	uc010sxn.1	+	26	2659	c.2659A>T	c.(2659-2661)Aaa>Taa	p.K887*	MYO1H_uc010sxo.1_Nonsense_Mutation_p.K78*	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	78						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCCGGTCATTAAATATGACAG	0.478000														103			34		0	0	0.005524	0	0
TMEM116	89894	broad.mit.edu	37	12	112371783	112371783	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:112371783C>A	uc001ttd.2	-	8	891	c.640G>T	c.(640-642)Ggc>Tgc	p.G214C	TMEM116_uc001tte.2_Missense_Mutation_p.G179C|TMEM116_uc001ttf.2_Missense_Mutation_p.G122C|TMEM116_uc001ttc.2_Missense_Mutation_p.G122C	NM_001193531	NP_001180460	Q8NCL8	TM116_HUMAN	Homo sapiens transmembrane protein 116 (TMEM116), transcript variant 1, mRNA.	122						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						CCCAGAAAGCCAGTTGACTTC	0.473000														48			40		6.29468e-14	9.19431e-14	0.004878	1	0
FSIP2	401024	broad.mit.edu	37	2	186670661	186670661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:186670661C>T	uc002upl.3	+	16	16895	c.16895C>T	c.(16894-16896)aCc>aTc	p.T5632I	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACTTCAACTACCACTGTGAAA	0.294000														26			6		0	0	0.001168	0	0
SLC39A8	64116	broad.mit.edu	37	4	103189214	103189214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:103189214G>A	uc003hwb.1	-	5	1392	c.863C>T	c.(862-864)tCa>tTa	p.S288L	SLC39A8_uc011ceo.1_Missense_Mutation_p.S288L|SLC39A8_uc003hwa.1_Missense_Mutation_p.S221L|SLC39A8_uc003hwc.2_Missense_Mutation_p.S288L	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	288						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACAGGTACATGAACTTGGCTC	0.433000														160			40		0	0	0.002522	0	0
ABCA4	24	broad.mit.edu	37	1	94486960	94486960	+	Nonsense_Mutation	SNP	C	T	T	rs61752439		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:94486960C>T	uc001dqh.3	-	34	4958	c.4854G>A	c.(4852-4854)tgG>tgA	p.W1618*	ABCA4_uc009wdp.1_5'Flank	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1618					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGTTATTAAACCACACCTAGA	0.512000														188			114		0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31803000	31803001	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:31803000_31803001CC>TG	uc010dmi.3	-	0	515_516	c.217_218GG>CA	c.(217-219)gga>CAa	p.G73Q	NOL4_uc002kxr.4_5'Flank|NOL4_uc010xbt.2_5'Flank|NOL4_uc010dmh.3_5'Flank|NOL4_uc010xbu.2_Missense_Mutation_p.G73Q|NOL4_uc002kxt.4_Missense_Mutation_p.G73Q	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	73						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCCGCCGCCTCCCCCGCGGACC	0.624000														294			196		0	0	0.004672	0	0
RTF1	23168	broad.mit.edu	37	15	41772832	41772833	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:41772832_41772833CC>TT	uc001zny.3	+	17	2092_2093	c.2080_2081CC>TT	c.(2080-2082)cca>TTa	p.P694L		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	694					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGATGGGGCTCCAAGGAGATCT	0.550000														327			165		0	0	0.004672	0	0
SGSM2	9905	broad.mit.edu	37	17	2266792	2266792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:2266792G>A	uc002fum.4	+	6	883	c.706G>A	c.(706-708)Gag>Aag	p.E236K	SGSM2_uc002fun.4_Missense_Mutation_p.E236K|SGSM2_uc010vqw.2_Missense_Mutation_p.E236K	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	236						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAGCGCGTCGGAGGACAGGCT	0.652000														55			101		0	0	0.003610	0	0
ARF6	382	broad.mit.edu	37	14	50360931	50360931	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:50360931G>A	uc021rsu.1	+	0	477	c.477G>A	c.(475-477)ggG>ggA	p.G159G	ARF6_uc001wxg.4_Silent_p.G159G	NM_001663	NP_001654	P62330	ARF6_HUMAN	Homo sapiens ADP-ribosylation factor 6 (ARF6), mRNA.	159					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of Rac protein signal transduction|regulation of dendritic spine development|regulation of filopodium assembly|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|cell cortex|endosome membrane|filopodium membrane|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CCACCTCAGGGGACGGACTCT	0.532000														176			107		0	0	0.003610	0	0
PLCH2	9651	broad.mit.edu	37	1	2411717	2411717	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:2411717A>G	uc001aji.1	+	3	882	c.608A>G	c.(607-609)aAc>aGc	p.N203S	PLCH2_uc010nyz.2_5'UTR|PLCH2_uc009vle.1_5'UTR|PLCH2_uc001ajj.1_5'UTR|PLCH2_uc001ajk.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	204	EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTCAACGTGAACCTGCCCCGG	0.637000														478			278		0	0	0.003610	0	0
KCNA10	3744	broad.mit.edu	37	1	111060112	111060112	+	Missense_Mutation	SNP	C	T	T	rs144405106	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:111060112C>T	uc001dzt.1	-	0	1686	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	433						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AATCTTCCCCCCTGGGGTGGT	0.562000														59			22		0	0	0.001882	0	0
ATG2A	23130	broad.mit.edu	37	11	64669436	64669437	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64669436_64669437GG>AA	uc001obx.3	-	28	4231_4232	c.4116_4117CC>TT	c.(4114-4119)atcccg>atTTcg	p.P1373S	ATG2A_uc001obw.3_Missense_Mutation_p.P138S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1373							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCACGCACCGGGATGCCCAGGC	0.609000														294			205		0	0	0.004672	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962430	235962430	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:235962430C>T	uc002vvp.3	+	5	3255	c.2862C>T	c.(2860-2862)agC>agT	p.S954S	SH3BP4_uc010fym.3_Silent_p.S936S|SH3BP4_uc002vvq.3_Silent_p.S954S	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	954					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCGCCTTCAGCCCTGCGGACC	0.597000														388			221		0	0	0.003610	0	0
CAND2	23066	broad.mit.edu	37	3	12859246	12859246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:12859246G>A	uc003bxk.2	+	9	2864	c.2815G>A	c.(2815-2817)Gcc>Acc	p.A939T	CAND2_uc003bxj.2_Missense_Mutation_p.A846T	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	939					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGACATCTGGGCCTTGCTGTT	0.667000														565			360		0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996573	140996573	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:140996573A>T	uc004fbt.3	+	3	3707	c.3383A>T	c.(3382-3384)gAa>gTa	p.E1128V	MAGEC1_uc010nsl.2_Missense_Mutation_p.E195V|MAGEC1_uc022cfi.1_Missense_Mutation_p.E787V	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1128							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCACAGAAAGTGCAAGC	0.493000										HNSCC(15;0.026)				16			66		0	0	0.003610	0	0
RTL1	388015	broad.mit.edu	37	14	101349454	101349454	+	Missense_Mutation	SNP	G	A	A	rs41286560	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:101349454G>A	uc010txj.1	-	0	1731	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	558										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGAGTATGGGTGTGGCAGT	0.577000														156			95		0	0	0.003610	0	0
HECW2	57520	broad.mit.edu	37	2	197298102	197298102	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:197298102T>C	uc002utm.1	-	1	229	c.46A>G	c.(46-48)Aat>Gat	p.N16D		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	16					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.R15Q(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATCTGGGGATTTCGACGCCTC	0.572000														30			18		0	0	0.008871	0	0
MYO5B	4645	broad.mit.edu	37	18	47429091	47429091	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:47429091C>G	uc002leb.2	-	20	2972	c.2684G>C	c.(2683-2685)cGg>cCg	p.R895P	MYO5B_uc002lea.2_Missense_Mutation_p.R36P	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	895	Arg-rich.|IQ 5.|IQ 6.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTTGAGCATCCGGAAGGCACA	0.622000														90			51		0	0	0.003610	0	0
MLL2	8085	broad.mit.edu	37	12	49421018	49421018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:49421018G>A	uc001rta.4	-	47	14731	c.14731C>T	c.(14731-14733)Cct>Tct	p.P4911S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4911	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.G4911E(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGTTCTTCAGGAGGTGGGGCC	0.627000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				685			234		0	0	0.003610	0	0
DSC3	1825	broad.mit.edu	37	18	28605778	28605778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28605778C>T	uc002kwj.4	-	4	733	c.578G>A	c.(577-579)gGa>gAa	p.G193E	DSC3_uc002kwi.4_Missense_Mutation_p.G193E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	193	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AAATAGATTTCCAGTGTCTCT	0.333000														51			23		0	0	0.001882	0	0
AGXT	189	broad.mit.edu	37	2	241813426	241813426	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:241813426G>A	uc002waa.4	+	5	748	c.627G>A	c.(625-627)aaG>aaA	p.K209K	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	209					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.Q208H(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCTCCCAGAAGGCCCTGAACG	0.632000														560			254		0	0	0.003610	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095822	178095822	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:178095822C>T	uc002ulh.4	-	4	2064	c.1509G>A	c.(1507-1509)agG>agA	p.R503R	NFE2L2_uc002ulg.4_Silent_p.R487R|NFE2L2_uc010zfa.2_Silent_p.R480R|NFE2L2_uc002uli.4_Silent_p.R487R	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	503					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTACCCCTCCTACGTATAT	0.353000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)				137			63		0	0	0.003610	0	0
NFE2L1	4779	broad.mit.edu	37	17	46135824	46135824	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:46135824C>T	uc002imz.4	+	5	1791	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	NFE2L1_uc002ina.4_Silent_p.P350P|NFE2L1_uc002inb.4_Silent_p.P350P|NFE2L1_uc010wle.2_Silent_p.P192P|NFE2L1_uc010wlf.2_Silent_p.P224P	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	380					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCAGCCCCGAGGTGGAAA	0.607000														488			317		0	0	0.003610	0	0
OR2G6	391211	broad.mit.edu	37	1	248684994	248684994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:248684994G>A	uc001ien.1	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTCTCCTGGGATTTTCAGAT	0.418000														91			92		0	0	0.003610	0	0
KIAA0664	23277	broad.mit.edu	37	17	2601309	2601309	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:2601309G>A	uc002fuy.1	-	9	1814	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	KIAA0664_uc002fux.1_Silent_p.F508F|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	576							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GCACGGGCAGGAAGTTGAGGT	0.692000														36			51		0	0	0.003610	0	0
TTBK1	84630	broad.mit.edu	37	6	43250912	43250912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:43250912G>A	uc003ouq.1	+	13	2713	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	TTBK1_uc021yzs.1_Missense_Mutation_p.D100N	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	812						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCTGGCAGACGATCAGAAGGA	0.667000														40			30		0	0	0.006320	0	0
SCN8A	6334	broad.mit.edu	37	12	52156341	52156341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:52156341C>T	uc001ryw.3	+	14	2603	c.2425C>T	c.(2425-2427)Ccc>Tcc	p.P809S	SCN8A_uc010snl.2_Missense_Mutation_p.P809S|SCN8A_uc001ryy.2_Missense_Mutation_p.P674S	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	809					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.P809P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCCATGGATCCCTACTATTA	0.413000														204			173		0	0	0.003610	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285640	44285640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:44285640C>T	uc010qfe.1	-	0	226	c.196G>A	c.(196-198)Gta>Ata	p.V66I						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		TCTCTCATTACCAGACAATCT	0.433000														117			36		0	0	0.003755	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40247835	40247835	+	Silent	SNP	T	C	C	rs56302914		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:40247835T>C	uc001zkm.1	+	5	659	c.609T>C	c.(607-609)atT>atC	p.I203I	EIF2AK4_uc001zkl.3_Silent_p.I203I|EIF2AK4_uc010bbj.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	203					translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTTTGGAAATTGCTAGTTTGT	0.373000														113			47		0	0	0.003610	0	0
EMID2	136227	broad.mit.edu	37	7	101183202	101183202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:101183202C>T	uc010lhy.1	+	4	662	c.470C>T	c.(469-471)cCc>cTc	p.P157L	EMID2_uc003uyo.1_Missense_Mutation_p.P159L	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	159						collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GCAGAACGGCCCTCCAGCCCG	0.627000														179			81		0	0	0.003610	0	0
NFE2	4778	broad.mit.edu	37	12	54686416	54686416	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:54686416C>T	uc009znk.3	-	1	1374	c.864G>A	c.(862-864)ctG>ctA	p.L288L	NFE2_uc001sfq.3_Silent_p.L288L|NFE2_uc001sfr.4_Silent_p.L288L|NFE2_uc009znl.3_Silent_p.L288L	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	288					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CAATGGTTTCCAGCTTCCTCT	0.642000														82			121		0	0	0.003610	0	0
ANKS1A	23294	broad.mit.edu	37	6	34949602	34949602	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:34949602C>T	uc003ojx.4	+	3	713	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvr.1_Non-coding_Transcript	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	191						cytoplasm	protein binding	p.A190V(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGGCAGCACTGTACGGGCG	0.562000														91			60		0	0	0.003610	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632228	156632228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:156632228G>A	uc003iov.3	+	6	1447	c.911G>A	c.(910-912)gGc>gAc	p.G304D	GUCY1A3_uc003iou.2_Missense_Mutation_p.G304D|GUCY1A3_uc010iqc.2_Missense_Mutation_p.G304D|GUCY1A3_uc010iqd.3_Missense_Mutation_p.G303D|GUCY1A3_uc003iow.3_Missense_Mutation_p.G304D|GUCY1A3_uc003iox.3_Missense_Mutation_p.G304D|GUCY1A3_uc010iqe.3_Missense_Mutation_p.G69D|GUCY1A3_uc003ioy.3_Missense_Mutation_p.G304D|GUCY1A3_uc003ioz.3_Missense_Mutation_p.G69D|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.G304D	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	304					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTGGCAATGGCATCAGAAGG	0.418000														9			21		0	0	0.001882	0	0
ARL11	115761	broad.mit.edu	37	13	50204832	50204832	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:50204832C>T	uc001vdf.2	+	1	584	c.249C>T	c.(247-249)atC>atT	p.I83I	ARL11_uc021rjo.1_Silent_p.I83I	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.	83					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCACAGATATCCTCGTGTACG	0.612000														246			135		0	0	0.003610	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856307	62856307	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:62856307G>A	uc002jey.2	-	10	4573	c.3957C>T	c.(3955-3957)ccC>ccT	p.P1319P	LRRC37A3_uc010wqg.1_Silent_p.P437P|LRRC37A3_uc002jex.1_Silent_p.P296P|LRRC37A3_uc010wqf.1_Silent_p.P357P|LRRC37A3_uc010dek.1_Silent_p.P325P|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1319						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTTGACCTTGGGTGTTCTGT	0.428000														548			303		0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599065	31599065	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31599065A>C	uc003nvb.4	+	15	2864	c.2615A>C	c.(2614-2616)gAa>gCa	p.E872A	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.E872A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	872	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGCAGTGATGAAGTGGCCAAG	0.637000														352			160		0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152424922	152424923	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:152424922_152424923GG>AA	uc021vrb.1	-	82	12569_12570	c.12540_12541CC>TT	c.(12538-12543)taccgg>taTTgg	p.R4181W	NEB_uc002txr.3_Missense_Mutation_p.R647W|NEB_uc002txu.3_Missense_Mutation_p.R5882W|NEB_uc021vrc.1_Missense_Mutation_p.R5882W|NEB_uc010fnx.3_Missense_Mutation_p.R4169W|NEB_uc021vrd.1_Missense_Mutation_p.R4181W	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4181					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGTCTTTCCGGTATTTAATCT	0.441000														30			19		0	0	0.004672	0	0
FZD8	8325	broad.mit.edu	37	10	35928828	35928828	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:35928828G>A	uc001iyz.1	-	0	1535	c.1530C>T	c.(1528-1530)atC>atT	p.I510I		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	510					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGACCGAGCGGATGCGGAAGA	0.637000														167			71		0	0	0.003610	0	0
OR6V1	346517	broad.mit.edu	37	7	142749774	142749774	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142749774C>T	uc011ksv.2	+	0	337	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTTCCTCATCCTGACAGACAT	0.577000														89			41		0	0	0.006999	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960599	143960599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:143960599C>T	uc010mey.3	-	2	386	c.379G>A	c.(379-381)Gac>Aac	p.D127N	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.D82N|CYP11B1_uc003yxj.3_Missense_Mutation_p.D82N	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCTCCCAAGTCGTACCTGTGG	0.637000									Familial Hyperaldosteronism type I					334			228		0	0	0.003610	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391948	23391948	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:23391948G>A	uc002dln.3	+	12	1925	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	583					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGCTGGTGGAGGCCCACACCA	0.697000														399			229		0	0	0.003610	0	0
C16orf48	84080	broad.mit.edu	37	16	67699046	67699046	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:67699046C>T	uc002etw.1	-	2	589	c.306G>A	c.(304-306)aaG>aaA	p.K102K	C16orf48_uc002etv.1_5'Flank|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.3_5'Flank|C16orf86_uc002etz.3_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	Homo sapiens chromosome 16 open reading frame 48 (C16orf48), mRNA.	102						microtubule cytoskeleton	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	10		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TCAGGTTCTCCTTCTCATGGT	0.597000														606			318		0	0	0.003610	0	0
OR52K1	390036	broad.mit.edu	37	11	4510322	4510323	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4510322_4510323TC>GT	uc001lza.2	+	0	214_215	c.192_193TC>GT	c.(190-195)tttctg>ttGTtg	p.F64L		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTACCTCTTTCTGGCCATGTT	0.485000														27			22		0	0	0.004672	0	0
VWA2	340706	broad.mit.edu	37	10	116037803	116037803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:116037803C>T	uc001lbl.1	+	6	1018	c.697C>T	c.(697-699)Cca>Tca	p.P233S	VWA2_uc001lbk.1_Missense_Mutation_p.P233S|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	233						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CAGCGCCACGCCAGGTAAGAT	0.647000														140			49		0	0	0.003610	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623599	46623599	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:46623599C>T	uc003oyh.3	+	1	404	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SLC25A27_uc011dwb.2_Silent_p.L42L|SLC25A27_uc003oyg.3_Silent_p.L42L|SLC25A27_uc011dwc.2_5'UTR|SLC25A27_uc003oyi.3_5'Flank	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			CCCTGGATCTCACAAAAACTC	0.443000														308			167		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21042367	21042367	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:21042367C>A	uc010vbe.2	-	37	5439	c.5439_splice	c.e37+1	p.K1813_splice		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1813	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAATACTTACCTTTTTATTGT	0.338000														79			25		4.7796e-09	6.96115e-09	0.004656	1	0
GCN1L1	10985	broad.mit.edu	37	12	120578756	120578756	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:120578756G>A	uc001txo.3	-	44	5914	c.5901C>T	c.(5899-5901)atC>atT	p.I1967I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1967					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCCTCAAGGATGGGGATGA	0.527000														562			171		0	0	0.003610	0	0
FAM159A	348378	broad.mit.edu	37	1	53108537	53108537	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:53108537T>A	uc001cuf.3	+	1	285	c.185T>A	c.(184-186)aTt>aAt	p.I62N	FAM159A_uc001cug.1_Non-coding_Transcript|FAM159A_uc001cuh.3_Non-coding_Transcript	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	62						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CTTCCCAGCATTGGCGCTCTC	0.527000														520			341		0	0	0.003610	0	0
PLCH1	23007	broad.mit.edu	37	3	155267630	155267630	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:155267630C>T	uc021xge.1	-	8	1549	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G	PLCH1_uc021xgd.1_Silent_p.G424G|PLCH1_uc021xgf.1_Silent_p.G406G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	424	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTTGCACTCCCCTGTATCAA	0.408000														56			27		0	0	0.004656	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471555	61471555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:61471555C>T	uc002ljl.3	+	7	925	c.829C>T	c.(829-831)Cct>Tct	p.P277S	SERPINB7_uc002ljm.3_Missense_Mutation_p.P277S|SERPINB7_uc010xet.2_Missense_Mutation_p.P260S|SERPINB7_uc010dqg.3_Missense_Mutation_p.P277S	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	277					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGTATTTTTTCCTCAGTTCAA	0.353000														33			14		0	0	0.002450	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181055	81181055	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:81181055C>T	uc002fgh.1	-	29	5036	c.5036G>A	c.(5035-5037)tGg>tAg	p.W1679*	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1679					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CACTGAGTCCCAGCCCAAGGC	0.552000														316			181		0	0	0.003610	0	0
LCP1	3936	broad.mit.edu	37	13	46708262	46708262	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:46708262C>T	uc001vaz.4	-	14	1752	c.1626_splice	c.e14+1	p.K542_splice	LCP1_uc010ack.3_Splice_Site_p.K111_splice|LCP1_uc001vay.4_Splice_Site_p.K139_splice|LCP1_uc001vba.4_Splice_Site_p.K542_splice	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	542	Actin-binding 2.|CH 4.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AGAATTTTACCTTGAAACTAG	0.393000			T	BCL6	NHL									20			28		0	0	0.009535	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529668	6529669	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:6529668_6529669CC>TT	uc001anp.1	-	17	2597_2598	c.2099_2100GG>AA	c.(2098-2100)agg>aAA	p.R700K	PLEKHG5_uc001ann.1_Missense_Mutation_p.R660K|PLEKHG5_uc001ano.1_Missense_Mutation_p.R679K|PLEKHG5_uc001anq.1_Missense_Mutation_p.R700K|PLEKHG5_uc001anj.1_Missense_Mutation_p.R184K|PLEKHG5_uc009vma.1_Missense_Mutation_p.R463K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R692K|PLEKHG5_uc001ank.1_Missense_Mutation_p.R623K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R623K|PLEKHG5_uc001anl.1_Missense_Mutation_p.R623K|PLEKHG5_uc001anm.1_Missense_Mutation_p.R623K	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	679	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGACCCTGGTCCTCTCTGCCTT	0.614000														510			312		0	0	0.004672	0	0
ULK4P3	89837	broad.mit.edu	37	15	32693645	32693645	+	RNA	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:32693645C>T	uc001zgb.3	-	8		c.799G>A								Homo sapiens unc-51-like kinase 4 (C. elegans) pseudogene 3 (ULK4P3), non-coding RNA.																		TGCTGGAACTCTAGGGCTGTT	0.478000														13			18		0	0	0.008871	0	0
MYO7B	4648	broad.mit.edu	37	2	128366430	128366430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:128366430G>A	uc002top.3	+	21	2844	c.2791G>A	c.(2791-2793)Ggc>Agc	p.G931S		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	931						apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGCCAGGAGGGCCAGGCCTC	0.627000														130			72		0	0	0.003610	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	G	G	rs3874227	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:25161397C>G	uc001upm.3	+	7		c.921C>G			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAACATCTCTACAACTGGA	0.343000														25			13		0	0	0.004990	0	0
C3orf15	89876	broad.mit.edu	37	3	119466063	119466063	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:119466063G>A	uc003ede.4	+	14	2081	c.2004G>A	c.(2002-2004)gaG>gaA	p.E668E	C3orf15_uc010hqz.3_Silent_p.E606E|C3orf15_uc011bjd.2_Silent_p.E542E|C3orf15_uc011bje.2_Silent_p.E648E|C3orf15_uc003edg.4_5'Flank	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	504						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CAGAAATAGAGAAGATGGCTG	0.408000														66			37		0	0	0.006999	0	0
FGFR2	2263	broad.mit.edu	37	10	123245004	123245004	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:123245004C>T	uc021pzz.1	-	15	2747	c.2100G>A	c.(2098-2100)ggG>ggA	p.G700G	FGFR2_uc021pzv.1_Silent_p.G588G|FGFR2_uc021pzw.1_Silent_p.G585G|FGFR2_uc021pzx.1_Silent_p.G611G|FGFR2_uc021pzy.1_Silent_p.G701G|FGFR2_uc010qtl.2_Silent_p.G584G|FGFR2_uc010qtm.2_Silent_p.G583G|FGFR2_uc021qaa.1_Silent_p.G701G|FGFR2_uc021qab.1_Silent_p.G612G|FGFR2_uc021qac.1_Silent_p.G629G|FGFR2_uc001lfg.4_Silent_p.G308G|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	700	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.G701S(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGGGCGAGCCCCCTAAAGTGA	0.502000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					127			49		0	0	0.003610	0	0
CDH7	1005	broad.mit.edu	37	18	63548088	63548088	+	Silent	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:63548088C>G	uc002lkb.3	+	11	2742	c.2316C>G	c.(2314-2316)ctC>ctG	p.L772L	CDH7_uc002ljz.3_Silent_p.L772L	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	772					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L772L(3)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTAAACGACTCGCGGACATGT	0.413000														188			94		0	0	0.003610	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101751	69101751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:69101751C>T	uc003hdw.4	-	3	413	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	93	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.K92K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TTGACATATTCCTTATATATA	0.254000														18			22		0	0	0.002780	0	0
EIF3C	8663	broad.mit.edu	37	16	28734620	28734620	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:28734620C>T	uc010byj.3	+	8	1001	c.912C>T	c.(910-912)gtC>gtT	p.V304V	NPIPL1_uc010vct.2_Intron|EIF3C_uc010byi.3_Silent_p.V304V|EIF3C_uc002dqs.4_Silent_p.V304V|EIF3C_uc002dqt.4_Silent_p.V304V|EIF3C_uc010vcy.2_Silent_p.V294V|EIF3C_uc002dqu.4_Silent_p.V304V|EIF3C_uc002dqv.4_Silent_p.V50V	NM_001099661	NP_003743	Q99613	EIF3C_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit C-like (EIF3CL), mRNA.	304						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.V304G(1)		lung(5)|skin(1)	6						GGGAAAGGGTCCGGGGCGGAG	0.532000														419			111		0	0	0.003610	0	0
VCAN	1462	broad.mit.edu	37	5	82833200	82833200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:82833200G>A	uc003kii.3	+	7	4734	c.4378G>A	c.(4378-4380)Gaa>Aaa	p.E1460K	VCAN_uc003kij.3_Missense_Mutation_p.E473K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E124K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1460	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGCCAAAACGGAATTGTCTAC	0.423000														20			11		0	0	0.000978	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38350012	38350012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38350012C>T	uc010cwu.1	+	14	1833	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.S384F	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	654	Ras-GEF.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TTCGAGCTCTCCTACAAGCTG	0.567000														311			202		0	0	0.003610	0	0
SBNO1	55206	broad.mit.edu	37	12	123805410	123805410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:123805410G>A	uc010tap.2	-	16	2327	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	SBNO1_uc010tao.2_Missense_Mutation_p.P775L|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.P775L|SBNO1_uc001uet.2_Missense_Mutation_p.P776L|SBNO1_uc001uev.2_Missense_Mutation_p.P774L|SBNO1_uc009zxy.1_Missense_Mutation_p.P741L	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	776							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AATTAACCAGGGATCTGAGTG	0.299000														48			12		0	0	0.004990	0	0
DNAH3	55567	broad.mit.edu	37	16	20986677	20986677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:20986677C>T	uc010vbe.2	-	50	8137	c.8137G>A	c.(8137-8139)Gaa>Aaa	p.E2713K	DNAH3_uc010vbd.2_Missense_Mutation_p.E148K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2713	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGGCAGTTTCCTCGGAGGTG	0.488000														335			220		0	0	0.003610	0	0
OR52M1	119772	broad.mit.edu	37	11	4566873	4566873	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4566873C>T	uc010qyf.2	+	0	453	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTTTCTCTCCTCCGGGGTG	0.527000														44			6		0	0	0.001168	0	0
SLC16A7	9194	broad.mit.edu	37	12	60098735	60098735	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:60098735C>A	uc001sqs.3	+	2	452	c.153C>A	c.(151-153)ttC>ttA	p.F51L	SLC16A7_uc001sqt.3_Missense_Mutation_p.F51L|SLC16A7_uc001squ.3_Missense_Mutation_p.F51L|SLC16A7_uc009zqi.3_5'UTR|SLC16A7_uc010ssi.2_5'UTR	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	51						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AGCAAATATTCCACACTACCT	0.403000														8			7		0.00307968	0.00445104	0.003080	1	0
AP4E1	23431	broad.mit.edu	37	15	51250972	51250973	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:51250972_51250973GG>AT	uc001zyx.2	+	13	1939_1940	c.1832_1833GG>AT	c.(1831-1833)agg>aAT	p.R611N	AP4E1_uc021skz.1_Missense_Mutation_p.R536N	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	611					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CCAGTTGACAGGAGTTGTGAAG	0.347000														53			24		0	0	0.004672	0	0
LMLN	89782	broad.mit.edu	37	3	197762814	197762814	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:197762814C>T	uc010iar.3	+	15	1900	c.1878C>T	c.(1876-1878)caC>caT	p.H626H	LMLN_uc003fyt.3_Silent_p.H574H|LMLN_uc011buo.2_Silent_p.H589H|LMLN_uc010ias.3_Silent_p.H537H|LMLN_uc003fyu.3_Silent_p.H386H	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	589					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GCTGGATTCACGATGGAAACC	0.522000														258			9		0	0	0.004482	0	0
TNXB	7148	broad.mit.edu	37	6	32041447	32041447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:32041447G>A	uc003nzl.2	-	11	4860	c.4658C>T	c.(4657-4659)cCc>cTc	p.P1553L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1640					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACAGACAGGGGGCCCATGCG	0.567000														553			395		0	0	0.003610	0	0
TLR9	54106	broad.mit.edu	37	3	52264925	52264925	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52264925G>A	uc003ddd.3	-	5	721	c.570C>T	c.(568-570)ctC>ctT	p.L190L	TLR9_uc003ddb.3_5'UTR|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGAGCTGCTGGAGTGCCCGCT	0.612000														69			97		0	0	0.003610	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:103698526G>A	uc001vpy.4	-	5	1601	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATAAAACGATGACTCTGG	0.373000														27			16		0	0	0.006122	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120562	120562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrGL000209.1:120562C>T	uc010yie.2	+	3	525	c.514C>T	c.(514-516)Cct>Tct	p.P172S	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.P169S|KIR2DL2_uc002qum.3_Missense_Mutation_p.P172S	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	172	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										ACGTAGGCTCCCTGCAGGGAC	0.582000														348			244		0	0	0.003610	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461449	76461450	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:76461449_76461450CC>TA	uc002fex.1	+	2	639_640	c.500_501CC>TA	c.(499-501)ccc>cTA	p.P167L	CNTNAP4_uc002feu.1_Missense_Mutation_p.P163L|CNTNAP4_uc002fev.1_Missense_Mutation_p.P76L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P139L|CNTNAP4_uc002few.2_Missense_Mutation_p.P139L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	164	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S166F(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAATGGAACCCCAAGGGCAGAA	0.406000														23			17		0	0	0.004672	0	0
STEAP2	261729	broad.mit.edu	37	7	89854414	89854414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:89854414G>A	uc010len.3	+	2	524	c.18G>A	c.(16-18)atG>atA	p.M6I	STEAP2_uc003ujy.2_Missense_Mutation_p.M48I|STEAP2_uc003uka.3_Missense_Mutation_p.M6I|STEAP2_uc003ujz.3_Missense_Mutation_p.M6I|STEAP2_uc003ukc.3_Missense_Mutation_p.M6I|STEAP2_uc003ukb.3_Missense_Mutation_p.M6I|STEAP2_uc003ukd.3_Missense_Mutation_p.M6I	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	6					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAATCTCTATGATGGGAAGCC	0.393000														169			93		0	0	0.003610	0	0
PIPSL	266971	broad.mit.edu	37	10	95720216	95720216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:95720216G>A	uc009xuj.2	-	0	1457	c.938C>T	c.(937-939)tCc>tTc	p.S313F						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TCCCTGGATGGATTCCATGGC	0.532000														108			67		0	0	0.003610	0	0
LMX1A	4009	broad.mit.edu	37	1	165173235	165173235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:165173235G>A	uc001gcz.2	-	8	1225	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	LMX1A_uc021pdz.1_Missense_Mutation_p.S344F|LMX1A_uc021pdy.1_Missense_Mutation_p.S95F|LMX1A_uc001gcw.2_Missense_Mutation_p.S62F	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	344						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GTTACTGAGGGAGGTGTCGTC	0.517000														88			68		0	0	0.003610	0	0
ABCC6	368	broad.mit.edu	37	16	16282690	16282690	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:16282690G>A	uc002den.4	-	12	1814	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Nonsense_Mutation_p.Q605*	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	593	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V592I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACCTCACCTGGACGAGGGAG	0.572000														66			27		0	0	0.004656	0	0
KDM2B	84678	broad.mit.edu	37	12	121880394	121880394	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:121880394C>T	uc001uat.3	-	18	2954	c.2850G>A	c.(2848-2850)ctG>ctA	p.L950L	KDM2B_uc010szy.2_Silent_p.L390L|KDM2B_uc001uaq.3_Silent_p.L390L|KDM2B_uc001uar.3_Silent_p.L541L|KDM2B_uc001uas.3_Silent_p.L881L|KDM2B_uc021rfd.1_Silent_p.L881L|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Silent_p.L950L|KDM2B_uc001uao.3_Silent_p.L198L|KDM2B_uc010szx.2_Silent_p.L198L|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	950					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						gctccttgctcagctccctgc	0.647000														124			45		0	0	0.009718	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104208349	104208349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:104208349C>T	uc001yof.1	-	10	1883	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Missense_Mutation_p.G401R	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	534	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCAGGTGGTCCCGCTGGCGGG	0.617000														596			298		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13753412	13753412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:13753412G>A	uc003jfd.2	-	62	10844	c.10802C>T	c.(10801-10803)cCt>cTt	p.P3601L	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3601	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P3601P(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)					AATTAACAAAGGGTAACGAGA	0.373000									Kartagener syndrome					29			11		0	0	0.000978	0	0
OR5F1	338674	broad.mit.edu	37	11	55762055	55762055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55762055C>T	uc010riv.2	-	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTCTGCTAATCCCAATAGGAC	0.348000														58			43		0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57767199	57767199	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:57767199G>A	uc002yan.3	+	0	1125	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	375						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGTCCGAGGGGGAgggcggcc	0.761000														106			71		0	0	0.003610	0	0
OXCT1	5019	broad.mit.edu	37	5	41840595	41840595	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:41840595G>T	uc003jmn.3	-	6	1021	c.690C>A	c.(688-690)ttC>ttA	p.F230L		NM_000436	NP_000427	P55809	SCOT1_HUMAN	Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.	230					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTGGCAAGTTGAAATTCCTTG	0.368000														25			26		4.43304e-23	6.49077e-23	0.006320	1	0
ZNF274	10782	broad.mit.edu	37	19	58718408	58718409	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:58718408_58718409GG>AA	uc002qrq.1	+	5	1035_1036	c.576_577GG>AA	c.(574-579)aaggca>aaAAca	p.A193T	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Non-coding_Transcript|ZNF274_uc002qrr.1_Missense_Mutation_p.A161T|ZNF274_uc002qrs.1_Missense_Mutation_p.A88T|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	194	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TACAGCCTAAGGCACGCTCCAA	0.619000														106			66		0	0	0.004672	0	0
SEC24B	10427	broad.mit.edu	37	4	110442617	110442617	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:110442617C>T	uc003hzk.3	+	13	2398	c.2343C>T	c.(2341-2343)acC>acT	p.T781T	SEC24B_uc003hzl.3_Silent_p.T746T|SEC24B_uc011cfp.2_Silent_p.T811T|SEC24B_uc011cfq.2_Silent_p.T780T|SEC24B_uc011cfr.2_Silent_p.T745T	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	781					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACATGTTCACCAATACAAGAG	0.378000														116			25		0	0	0.007291	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111648338	111648338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:111648338G>A	uc001kyp.2	-	5	551	c.431C>T	c.(430-432)cCa>cTa	p.P144L	XPNPEP1_uc009xxt.2_Missense_Mutation_p.P144L|XPNPEP1_uc001kyq.2_Missense_Mutation_p.P30L|XPNPEP1_uc010qrb.2_Missense_Mutation_p.P144L	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	101					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTCCTGAGTTGGTGTGTCCTT	0.488000														21			9		0	0	0.008291	0	0
GALNT13	114805	broad.mit.edu	37	2	154996960	154996960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:154996960C>T	uc002tyt.4	+	1	357	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F	GALNT13_uc002tyr.4_Missense_Mutation_p.L85F|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	85						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCAGTTTAACCTTATGGCCAG	0.348000														35			20		0	0	0.010504	0	0
RNF17	56163	broad.mit.edu	37	13	25338466	25338466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:25338466C>T	uc001upr.3	+	0	166	c.125C>T	c.(124-126)tCa>tTa	p.S42L	RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Missense_Mutation_p.S42L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Intron|RNF17_uc001upq.1_Missense_Mutation_p.S42L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	42					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTATCCAGATCATCCGGTGAG	0.657000														62			42		0	0	0.006999	0	0
NYAP2	57624	broad.mit.edu	37	2	226447029	226447029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:226447029C>T	uc002voe.2	+	3	1071	c.896C>T	c.(895-897)cCc>cTc	p.P299L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P69L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	299																	TGTGCTACTCCCACGGTGCCT	0.577000														354			186		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61874073	61874073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61874073C>T	uc001jky.3	-	25	3196	c.2858G>A	c.(2857-2859)aGg>aAg	p.R953K	ANK3_uc001jkw.3_Missense_Mutation_p.R87K|ANK3_uc009xpa.3_Missense_Mutation_p.R87K|ANK3_uc001jkx.3_Missense_Mutation_p.R131K|ANK3_uc010qih.2_Missense_Mutation_p.R954K|ANK3_uc001jkz.4_Missense_Mutation_p.R947K|ANK3_uc001jla.1_Missense_Mutation_p.R19K|ANK3_uc001jlb.1_Missense_Mutation_p.R460K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	953					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATCAAATTCCCTTGTGAATGT	0.333000														22			7		0	0	0.001984	0	0
PRAM1	84106	broad.mit.edu	37	19	8563693	8563693	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8563693G>A	uc002mkd.3	-	1	1062	c.999C>T	c.(997-999)tcC>tcT	p.S333S		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	381	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGGCTCTGAGGAGGTCCTGG	0.687000														58			50		0	0	0.003610	0	0
HOOK1	51361	broad.mit.edu	37	1	60299103	60299104	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:60299103_60299104AC>CT	uc009wad.3	+	5	402_403	c.300_301AC>CT	c.(298-303)gcactt>gcCTtt	p.L101F	HOOK1_uc001czo.3_Missense_Mutation_p.L101F|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.L59F	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	101	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTTCAGAAGCACTTATCCCTGA	0.361000														25			19		0	0	0.004672	0	0
ZAP70	7535	broad.mit.edu	37	2	98354343	98354344	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:98354343_98354344GG>AA	uc002syd.1	+	11	1813_1814	c.1606_1607GG>AA	c.(1606-1608)ggc>AAc	p.G536N	ZAP70_uc002sye.1_Missense_Mutation_p.G426N|ZAP70_uc002syf.1_Missense_Mutation_p.G229N	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	536	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CTTGTCCTACGGCCAGAAGCCC	0.629000														521			356		0	0	0.004672	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537579	28537579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:28537579G>A	uc002hey.4	-	10	1947	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	468					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GATGACCACGGCGAGCACGAA	0.602000														229			184		0	0	0.003610	0	0
BAP1	8314	broad.mit.edu	37	3	52443604	52443604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52443604C>T	uc003ddx.3	-	2	203	c.88G>A	c.(88-90)Gag>Aag	p.E30K	PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	30					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TAGATCTCCTCCACTTGCACC	0.617000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								564			364		0	0	0.003610	0	0
HMGCS2	3158	broad.mit.edu	37	1	120300032	120300032	+	Missense_Mutation	SNP	C	T	T	rs144103604		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:120300032C>T	uc001eid.3	-	4	968	c.880G>A	c.(880-882)Gat>Aat	p.D294N	HMGCS2_uc010oxj.2_Missense_Mutation_p.D252N|HMGCS2_uc021osw.1_Missense_Mutation_p.D60N|HMGCS2_uc021osx.1_Missense_Mutation_p.D147N	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	294					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TACTGTAAATCGTCAAGGGTG	0.512000														289			196		0	0	0.003610	0	0
C20orf26	26074	broad.mit.edu	37	20	20278924	20278924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:20278924G>A	uc002wru.3	+	24	3430	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1106								p.R1105M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCTTTCTAGGGAGCCCTTCCC	0.478000														204			110		0	0	0.003610	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862602	94862602	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:94862602C>T	uc001pfh.3	+	1	1480	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_015036	NP_055851	O94919	ENDD1_HUMAN	Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA.	454						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTTGCAAGGACATTGCACTGG	0.527000														83			79		0	0	0.003610	0	0
FAM83B	222584	broad.mit.edu	37	6	54804673	54804673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:54804673G>A	uc003pck.3	+	4	1020	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	302										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGCCCTCTGGGAAAATGGCAC	0.428000														22			15		0	0	0.002450	0	0
DSC2	1824	broad.mit.edu	37	18	28659912	28659912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28659912C>T	uc002kwl.4	-	10	2018	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	DSC2_uc002kwk.4_Missense_Mutation_p.E522K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	522	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCTGTATTTTCATCAATGGTG	0.328000														49			21		0	0	0.003954	0	0
HPSE	10855	broad.mit.edu	37	4	84222179	84222179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:84222179G>A	uc003hoj.4	-	10	1505	c.1406C>T	c.(1405-1407)cCt>cTt	p.P469L	HPSE_uc003hoi.3_Missense_Mutation_p.P411L|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.P212L|HPSE_uc003hok.4_Missense_Mutation_p.P469L|HPSE_uc011cct.2_Missense_Mutation_p.P395L	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	469					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GTTAGAAAAAGGATAGGGTAA	0.368000														65			66		0	0	0.003610	0	0
PCSK5	5125	broad.mit.edu	37	9	78803528	78803528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:78803528G>A	uc004akc.2	+	17	2855	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PCSK5_uc004ajz.3_Missense_Mutation_p.D773N|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.D47N	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	773	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCCTGTGAAGATGGACGGTA	0.532000														16			17		0	0	0.008871	0	0
CLCN1	1180	broad.mit.edu	37	7	143047569	143047569	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:143047569G>A	uc003wcr.1	+	21	2595	c.2508_splice	c.e21+1	p.K836_splice	CLCN1_uc011ktc.1_Splice_Site_p.K448_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	836	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCTGCACAAGGTGAGTCTTT	0.567000														295			166		0	0	0.003610	0	0
GBP1	2633	broad.mit.edu	37	1	89522545	89522545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:89522545C>T	uc001dmx.2	-	6	1367	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	383					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACCGCTAACTCCTTTTGAAAT	0.413000														201			103		0	0	0.003610	0	0
SUPT16H	11198	broad.mit.edu	37	14	21830469	21830469	+	Silent	SNP	G	A	A	rs143347467		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:21830469G>A	uc001wao.2	-	14	2019	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	560					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCCTTCCACGGACATACTTA	0.373000														47			20		0	0	0.002780	0	0
GPCPD1	56261	broad.mit.edu	37	20	5559205	5559205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:5559205G>A	uc002wme.4	-	7	739	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	GPCPD1_uc002wmd.4_5'UTR	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	176					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AGTACAGTGGGAGATACCCTA	0.433000														129			69		0	0	0.003610	0	0
PDP1	54704	broad.mit.edu	37	8	94935236	94935236	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:94935236C>T	uc011lgn.2	+	1	1175	c.1126C>T	c.(1126-1128)Caa>Taa	p.Q376*	PDP1_uc003ygf.3_Nonsense_Mutation_p.Q342*|PDP1_uc003yge.3_Nonsense_Mutation_p.Q317*|PDP1_uc010max.3_Nonsense_Mutation_p.Q342*|PDP1_uc011lgm.2_Nonsense_Mutation_p.Q317*|PDP1_uc022ayg.1_Nonsense_Mutation_p.Q317*	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	317					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCACAATGCTCAAAATGAAAG	0.507000														253			161		0	0	0.003610	0	0
MAGI2	9863	broad.mit.edu	37	7	78256514	78256514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:78256514C>T	uc003ugx.3	-	2	714	c.460G>A	c.(460-462)Gat>Aat	p.D154N	MAGI2_uc003ugy.3_Missense_Mutation_p.D154N|MAGI2_uc011kgr.1_5'UTR|MAGI2_uc011kgs.1_5'UTR	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	154	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AAAATATAATCCACTCCAGGG	0.393000														66			26		0	0	0.004656	0	0
PPM1M	132160	broad.mit.edu	37	3	52281709	52281709	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52281709C>T	uc011bed.2	+	3	641	c.609C>T	c.(607-609)atC>atT	p.I203I	PPM1M_uc003ddf.4_Silent_p.I42I|PPM1M_uc003ddg.4_5'UTR|PPM1M_uc003ddh.4_5'Flank	NM_144641	NP_653242	Q96MI6	PPM1M_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1M (PPM1M), transcript variant 1, mRNA.	42					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		ATGAGGTGATCGGGCGGGAGC	0.597000														90			53		0	0	0.003610	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58022834	58022834	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:58022834T>C	uc002ixy.3	+	13	1398	c.1295T>C	c.(1294-1296)aTc>aCc	p.I432T	RPS6KB1_uc010ddj.2_Missense_Mutation_p.I432T|RPS6KB1_uc010wom.2_Missense_Mutation_p.I379T|RPS6KB1_uc010won.2_Missense_Mutation_p.I409T|RPS6KB1_uc010woo.2_Missense_Mutation_p.I367T	NM_003161	NP_003152	P23443	KS6B1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 1 (RPS6KB1), mRNA.	432	Autoinhibitory domain.				G1/S transition of mitotic cell cycle|TOR signaling cascade|apoptosis|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GAACCAAAAATCCGATCACCT	0.383000														26			21		0	0	0.002780	0	0
HSPG2	3339	broad.mit.edu	37	1	22204701	22204701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:22204701G>A	uc009vqd.3	-	20	2706	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	HSPG2_uc001bfj.3_Missense_Mutation_p.S888F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	888	Laminin EGF-like 4; truncated.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGCCTCCCCGGAGGTCCCCAT	0.637000														188			90		0	0	0.003610	0	0
NNT	23530	broad.mit.edu	37	5	43619149	43619149	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:43619149C>T	uc003joe.3	+	4	870	c.615C>T	c.(613-615)gtC>gtT	p.V205V	NNT_uc003jof.3_Silent_p.V205V	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	205					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	AGGCTGTTGTCCTAGCAGCAA	0.313000														102			23		0	0	0.002299	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225604	61225604	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:61225604T>A	uc010xeo.2	+	1	188	c.188T>A	c.(187-189)tTt>tAt	p.F63Y	SERPINB12_uc010xen.2_Missense_Mutation_p.F63Y	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	63					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTCAACGAATTTTCCCAGAAT	0.423000														64			38		0	0	0.007835	0	0
PTPN5	84867	broad.mit.edu	37	11	18764004	18764004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:18764004G>A	uc001mpd.3	-	6	961	c.530C>T	c.(529-531)cCc>cTc	p.P177L	PTPN5_uc001mpb.3_Missense_Mutation_p.P145L|PTPN5_uc001mpc.3_Missense_Mutation_p.P177L|PTPN5_uc010rdj.2_Missense_Mutation_p.P121L|PTPN5_uc001mpf.3_Missense_Mutation_p.P153L|PTPN5_uc001mpe.3_Missense_Mutation_p.P145L|PTPN5_uc010rdk.2_Missense_Mutation_p.P122L	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	177						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GTCCTCAGGGGGCAGTGGGGT	0.642000														185			70		0	0	0.003610	0	0
LRRC17	10234	broad.mit.edu	37	7	102584657	102584657	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:102584657C>T	uc003vau.3	+	4	1318	c.929_splice	c.e4-1	p.A310_splice	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Splice_Site	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	310					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CTGTTTCCAGCCGCTTTTTTA	0.308000														103			42		0	0	0.003214	0	0
ELF2	1998	broad.mit.edu	37	4	139983140	139983140	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:139983140T>C	uc003ihp.1	-	6	900	c.649A>G	c.(649-651)Aaa>Gaa	p.K217E	ELF2_uc003ihm.1_Missense_Mutation_p.K169E|ELF2_uc003ihn.1_Missense_Mutation_p.K157E|ELF2_uc003iho.1_Missense_Mutation_p.K140E|ELF2_uc011chc.1_Missense_Mutation_p.K32E	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	229					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGAGTCCATTTAATATACCTG	0.353000														107			27		0	0	0.007291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520124	110520124	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:110520124G>A	uc003yne.3	+	69	11331	c.11227_splice	c.e69+1	p.G3743_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3743					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCTCATAAAGGTTTGTTGGA	0.353000										HNSCC(38;0.096)				138			44		0	0	0.002852	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914857	61914857	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61914857G>A	uc010deb.1	-	1	662	c.345C>T	c.(343-345)ttC>ttT	p.F115F	SMARCD2_uc010wpt.1_Silent_p.F67F|SMARCD2_uc010dea.1_Silent_p.F40F	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	115	Pro-rich.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GGCGTTTTCGGAATGGATCCA	0.637000														552			299		0	0	0.003610	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284813	52284813	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:52284813G>A	uc001rzd.3	+	4	1261	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Intron|ANKRD33_uc001rze.3_Silent_p.G257G|ANKRD33_uc001rzg.4_Intron|ANKRD33_uc001rzi.4_Intron	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	237										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCCCGCCAGGGAGTCCCCAGA	0.652000														154			132		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9057986	9057986	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9057986G>A	uc002mkp.3	-	2	29664	c.29460C>T	c.(29458-29460)tcC>tcT	p.S9820S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9822	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAACAGAACTGGAGGTCCTCA	0.478000														46			23		0	0	0.003330	0	0
HIST1H3A	8350	broad.mit.edu	37	6	26021002	26021002	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:26021002G>A	uc003nfp.1	+	0	285	c.285G>A	c.(283-285)gaG>gaA	p.E95E	HIST1H1A_uc003nfo.3_5'Flank|HIST1H4A_uc003nfq.3_5'Flank	NM_003529	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3a (HIST1H3A), mRNA.	95					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTCTGCAGGAGGCGTGCGAGG	0.567000														227			158		0	0	0.003610	0	0
ANXA11	311	broad.mit.edu	37	10	81918919	81918919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:81918919C>T	uc010qlx.1	-	9	1563	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	ANXA11_uc001kbq.1_Missense_Mutation_p.D405N|ANXA11_uc001kbr.1_Missense_Mutation_p.D405N|ANXA11_uc001kbs.1_Missense_Mutation_p.D405N|ANXA11_uc001kbt.1_Missense_Mutation_p.D405N|ANXA11_uc010qly.1_Missense_Mutation_p.D372N|ANXA11_uc001kbu.1_Missense_Mutation_p.D405N	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	405					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCTCAATGTCCCGGCCTGTC	0.537000														324			196		0	0	0.003610	0	0
IGHE	3497	broad.mit.edu	37	14	106066550	106066550	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:106066550C>T	uc001yrw.1	-	4	1194	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.K341K|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		AGCCGGAGCCCTTGGTCTTGC	0.627000														265			184		0	0	0.003610	0	0
ANKK1	255239	broad.mit.edu	37	11	113269692	113269692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:113269692G>A	uc001pny.3	+	7	1095	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	334							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCAGACTCAGGAAACTACCTG	0.542000														26			6		0	0	0.001984	0	0
DCP1A	55802	broad.mit.edu	37	3	53326729	53326729	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:53326729C>T	uc021wzi.1	-	6	863	c.753G>A	c.(751-753)caG>caA	p.Q251Q	DCP1A_uc021wzk.1_Silent_p.Q213Q	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA.	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TGGGCTCTTTCTGGGAGGCAT	0.507000														44			41		0	0	0.008740	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103027349	103027349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:103027349C>T	uc001phn.1	+	25	4121	c.3977C>T	c.(3976-3978)tCa>tTa	p.S1326L	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.S1326L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1326	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATAAAGTATCAATTTGGGAA	0.348000														15			28		0	0	0.005443	0	0
ERN2	10595	broad.mit.edu	37	16	23713965	23713965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:23713965G>A	uc002dma.4	-	8	1226	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y	ERN2_uc010bxp.3_Missense_Mutation_p.H353Y|ERN2_uc010bxq.1_Missense_Mutation_p.H161Y	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	305					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ACTCCTGTGTGGACCAGTGCT	0.498000														557			350		0	0	0.003610	0	0
LPIN1	23175	broad.mit.edu	37	2	11922502	11922502	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:11922502T>A	uc010yjm.2	+	8	1333	c.1280T>A	c.(1279-1281)tTt>tAt	p.F427Y	LPIN1_uc010yjn.2_Missense_Mutation_p.F342Y|LPIN1_uc002rbt.3_Missense_Mutation_p.F342Y|LPIN1_uc002rbs.3_Missense_Mutation_p.F378Y	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	342					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAAATGCAGTTTGTGAATGAA	0.527000														331			260		0	0	0.003610	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537200	5537200	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5537200T>C	uc001maz.4	-	0	757	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	158										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GTATGCACTTTGGGTGCATCA	0.512000														30			27		0	0	0.003954	0	0
TNRC6A	27327	broad.mit.edu	37	16	24831623	24831624	+	Missense_Mutation	DNP	TA	AC	AC			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:24831623_24831624TA>AC	uc002dmm.3	+	21	5358_5359	c.5244_5245TA>AC	c.(5242-5247)gataat>gaACat	p.1748_1749DN>EH	TNRC6A_uc010bxs.3_Missense_Mutation_p.1495_1496DN>EH|TNRC6A_uc002dmn.3_Missense_Mutation_p.1446_1447DN>EH|TNRC6A_uc002dmo.3_Missense_Mutation_p.1387_1388DN>EH|TNRC6A_uc002dmr.3_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1748	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding	p.N1749K(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTACGTGGGATAATTCTCCCCT	0.520000														179			99		0	0	0.004672	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170735	42170735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:42170735G>A	uc001zos.3	-	16	3503	c.3170C>T	c.(3169-3171)gCc>gTc	p.A1057V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1092					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCCGTTGGGCCACTTGTTC	0.637000														150			101		0	0	0.003610	0	0
AMZ1	155185	broad.mit.edu	37	7	2748707	2748707	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:2748707A>G	uc003smr.1	+	5	963	c.602_splice	c.e5-2	p.E201_splice	AMZ1_uc003sms.1_Intron|AMZ1_uc011jwa.1_Splice_Site	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	201							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		ATCTCTCTCCAGAAGTGGGCG	0.652000														218			99		0	0	0.003610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553918	84553918	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:84553918G>A	uc002bjz.4	+	9	1250	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	ADAMTSL3_uc010bmt.1_Silent_p.Q342Q	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	342						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAGTCATCAGTGGAGACAAA	0.468000														26			8		0	0	0.004482	0	0
EIF3F	8665	broad.mit.edu	37	11	8016890	8016890	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:8016890G>A	uc001mfw.3	+	6	1427	c.972G>A	c.(970-972)gaG>gaA	p.E324E	EIF3F_uc010rbj.2_Silent_p.E175E	NM_003754	NP_003745	O00303	EIF3F_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA.	324						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGACTTTGAGACCATGCTCA	0.493000														253			289		0	0	0.003610	0	0
FAM47C	442444	broad.mit.edu	37	X	37028253	37028253	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:37028253G>A	uc004ddl.2	+	0	1822	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	590										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCGGGTGTCCAGTC	0.652000														49			165		0	0	0.003610	0	0
HEATR3	55027	broad.mit.edu	37	16	50112882	50112882	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:50112882C>A	uc002efw.3	+	6	1156	c.994C>A	c.(994-996)Cat>Aat	p.H332N	HEATR3_uc021thv.1_Missense_Mutation_p.H246N|HEATR3_uc002efx.3_Missense_Mutation_p.H246N	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	332							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGGAATTTCTCATAAAAGAAG	0.353000														157			79		5.68823e-23	8.32458e-23	0.003610	1	0
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5172912G>A	uc010qyy.2	-	0	688	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423000														156			46		0	0	0.002522	0	0
GPR97	222487	broad.mit.edu	37	16	57702286	57702287	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:57702286_57702287CC>TT	uc002emh.3	+	0	130_131	c.27_28CC>TT	c.(25-30)gccctg>gcTTtg	p.9_10AL>AL	GPR97_uc010cdc.3_Silent_p.9_10AL>AL|GPR97_uc010vhv.2_5'UTR|GPR97_uc010cdd.3_Non-coding_Transcript	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCTGGGGGCCCTGCTCCTGCT	0.718000														92			62		0	0	0.004672	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182922015	182922015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:182922015G>A	uc001gpu.3	-	0	539	c.254C>T	c.(253-255)gCg>gTg	p.A85V	SHCBP1L_uc001gpv.3_5'UTR|SHCBP1L_uc010pnz.2_5'UTR|SHCBP1L_uc001gpw.3_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	157										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						cgccgccgccgccgccTCTCC	0.751000														100			39		0	0	0.006230	0	0
BMPER	168667	broad.mit.edu	37	7	34118669	34118669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:34118669G>A	uc011kap.2	+	12	1653	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	427	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGTGCTGGGCGAGAGCAGGGT	0.687000														490			347		0	0	0.003610	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041490	86041490	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:86041490A>G	uc003ycw.3	+	9	1710	c.1502A>G	c.(1501-1503)aAa>aGa	p.K501R	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Missense_Mutation_p.K408R|LRRCC1_uc010maa.2_Missense_Mutation_p.K202R|LRRCC1_uc003ycy.3_Missense_Mutation_p.K481R	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	501					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATGAAATTAAAAAACTGACT	0.313000														362			188		0	0	0.003610	0	0
ABI3BP	25890	broad.mit.edu	37	3	100566478	100566478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:100566478G>A	uc003dun.3	-	16	1575	c.1490C>T	c.(1489-1491)tCt>tTt	p.S497F	ABI3BP_uc003duo.2_Missense_Mutation_p.S539F|ABI3BP_uc011bhd.2_5'Flank|ABI3BP_uc003dum.3_5'Flank	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	497	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGGCTTTTAGAAATTTTAGG	0.383000														61			30		0	0	0.002096	0	0
PRRG3	79057	broad.mit.edu	37	X	150868507	150868507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:150868507G>A	uc022cgt.1	+	2	96	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PRRG3_uc004few.2_Missense_Mutation_p.R16Q	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	16						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGAAACGATTCCCTCGT	0.587000														61			175		0	0	0.003610	0	0
CORO2B	10391	broad.mit.edu	37	15	69011130	69011130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:69011130C>T	uc002arj.4	+	8	1355	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	CORO2B_uc021spj.1_Missense_Mutation_p.S349F|CORO2B_uc010bic.3_Missense_Mutation_p.S349F|CORO2B_uc002ark.3_Missense_Mutation_p.S121F	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	354					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGCCCATCTCCATGATCGTG	0.627000														137			102		0	0	0.003610	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778842	14778842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:14778842G>A	uc001rcd.3	-	20	2394	c.2257C>T	c.(2257-2259)Cat>Tat	p.H753Y		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	753					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTTTGGTCATGAAAAAGTCTG	0.333000														22			5		0	0	0.001984	0	0
DNAH17	8632	broad.mit.edu	37	17	76499039	76499039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:76499039C>T	uc010dhp.2	-	31	5136	c.5011G>A	c.(5011-5013)Gaa>Aaa	p.E1671K	AK127460_uc002jvt.1_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGGGATTTCGTGCCGGAGG	0.647000														186			134		0	0	0.003610	0	0
USP35	57558	broad.mit.edu	37	11	77910659	77910659	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:77910659C>T	uc021qny.1	+	3	1181	c.825C>T	c.(823-825)tcC>tcT	p.S275S	USP35_uc001oze.2_Silent_p.S31S|USP35_uc001ozc.3_Intron|USP35_uc010rsp.2_Intron|USP35_uc001ozd.3_Intron|USP35_uc001ozf.3_Silent_p.S6S	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	275					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACTGGGTGTCCTGGCCCCTGG	0.547000														455			464		0	0	0.003610	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400727	195400727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195400727C>T	uc003fuw.3	+	8	1217	c.23C>T	c.(22-24)cCa>cTa	p.P8L	SDHAP2_uc011btb.1_Silent_p.P155P|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		AGATTGTGCCCAGCCTGTACG	0.587000														281			8		0	0	0.003080	0	0
ZNF142	7701	broad.mit.edu	37	2	219508346	219508346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219508346G>A	uc002vin.3	-	7	3329	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S	ZNF142_uc002vil.3_Missense_Mutation_p.P926S|ZNF142_uc010fvt.3_Missense_Mutation_p.P802S|ZNF142_uc002vim.3_Missense_Mutation_p.P802S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	965					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTGCAGGAGGGACTGGGGAA	0.562000														565			385		0	0	0.003610	0	0
COQ7	10229	broad.mit.edu	37	16	19083404	19083404	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:19083404G>A	uc002dfr.3	+	1	298	c.228G>A	c.(226-228)cgG>cgA	p.R76R	COQ7_uc021tee.1_Silent_p.R38R|COQ7_uc002dfs.3_Silent_p.R62R	NM_016138	NP_001177912	Q99807	COQ7_HUMAN	Homo sapiens coenzyme Q7 homolog, ubiquinone (yeast) (COQ7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	76	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TCCTGGGTCGGACCAGCGTCG	0.542000											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		434			260		0	0	0.003610	0	0
TUBB2A	7280	broad.mit.edu	37	6	3154135	3154135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:3154135C>T	uc003mvc.3	-	3	1386	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R	TUBB2A_uc003mvb.3_Missense_Mutation_p.G427R	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	Homo sapiens tubulin, beta 2A class IIa (TUBB2A), mRNA.	434					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCGAACTCCCCTTGTTCGTCG	0.557000														399			186		0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38810519	38810519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:38810519C>T	uc021yzh.1	+	34	4794	c.4685C>T	c.(4684-4686)tCa>tTa	p.S1562L	DNAH8_uc003ooe.2_Missense_Mutation_p.S1345L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.L1562L(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCAGTGAGTCATGTCCTCTA	0.383000														35			24		0	0	0.002780	0	0
MARK3	4140	broad.mit.edu	37	14	103946755	103946755	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:103946755G>C	uc001ymz.4	+	13	2180	c.1514G>C	c.(1513-1515)cGa>cCa	p.R505P	MARK3_uc001ymx.4_Missense_Mutation_p.R505P|MARK3_uc001ymw.4_Missense_Mutation_p.R505P|MARK3_uc001yna.4_Missense_Mutation_p.R489P|MARK3_uc001ymy.4_Missense_Mutation_p.R426P|MARK3_uc010awp.3_Missense_Mutation_p.R528P|MARK3_uc010tyb.2_Missense_Mutation_p.R300P|MARK3_uc010awq.3_Missense_Mutation_p.R35P	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	505							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ATGACACGACGAAATACTTAT	0.343000														206			82		0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7527893	7527893	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:7527893G>A	uc010sge.2	-	10	3041	c.3015C>T	c.(3013-3015)gtC>gtT	p.V1005V	CD163L1_uc001qsy.3_Silent_p.V995V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	995						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGATCACAGAGACAGTATTTC	0.433000														59			20		0	0	0.010504	0	0
CECR2	27443	broad.mit.edu	37	22	18028461	18028461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:18028461G>A	uc010gqw.1	+	15	3412	c.3412G>A	c.(3412-3414)Ggc>Agc	p.G1138S	CECR2_uc010gqv.1_Missense_Mutation_p.G998S|CECR2_uc002zml.2_Missense_Mutation_p.G999S|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1182					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCCCCAAGGGGCTTTCAGTC	0.592000														93			48		0	0	0.003610	0	0
ZFHX3	463	broad.mit.edu	37	16	72993478	72993478	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:72993478G>A	uc002fck.3	-	1	1240	c.567C>T	c.(565-567)ccC>ccT	p.P189P	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	189					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCGGGTACACGGGTGCAGCAC	0.617000														508			318		0	0	0.003610	0	0
SH3D19	152503	broad.mit.edu	37	4	152054201	152054201	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:152054201C>A	uc010ipl.1	-	16	2993	c.1903G>T	c.(1903-1905)Ggt>Tgt	p.G635C	SH3D19_uc003imb.2_Missense_Mutation_p.G390C|SH3D19_uc003imc.2_Missense_Mutation_p.G576C|SH3D19_uc003ime.2_Missense_Mutation_p.G612C|SH3D19_uc010ipm.2_Missense_Mutation_p.G612C	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	635					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACATTTGCACCAGAGGTGGGA	0.358000														17			100		2.98122e-55	4.38628e-55	0.003610	1	0
CYP2A6	1548	broad.mit.edu	37	19	41351362	41351362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41351362C>T	uc002opl.4	-	6	1019	c.998G>A	c.(997-999)aGa>aAa	p.R333K	CYP2A6_uc010ehe.1_Missense_Mutation_p.R129K	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	333					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GCCGATCACTCTGTCAATCTC	0.527000														424			230		0	0	0.003610	0	0
FYCO1	79443	broad.mit.edu	37	3	46011172	46011172	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46011172G>A	uc011bal.1	-	5	737	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	FYCO1_uc003cpb.4_Silent_p.L209L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	209					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTTACCTGCAGGTAGCTGCTC	0.562000														191			104		0	0	0.003610	0	0
CALCR	799	broad.mit.edu	37	7	93090202	93090202	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:93090202C>T	uc003umv.2	-	9	981	c.681G>A	c.(679-681)ctG>ctA	p.L227L	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.L193L|CALCR_uc003umw.2_Silent_p.L193L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	209					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.Q227H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCATAGAATTCAGAATGTAAG	0.413000														21			17		0	0	0.004990	0	0
DACH1	1602	broad.mit.edu	37	13	72131210	72131210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:72131210C>T	uc021rkj.1	-	5	1945	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	558					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCGGCCAAATCTCCCTCTTTG	0.413000														29			17		0	0	0.004007	0	0
MLL2	8085	broad.mit.edu	37	12	49432566	49432566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:49432566G>A	uc001rta.4	-	33	8573	c.8573C>T	c.(8572-8574)tCc>tTc	p.S2858F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2858					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R2857H(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGACGGGTGGAAATTCCCGC	0.602000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				92			20		0	0	0.008871	0	0
NEB	4703	broad.mit.edu	37	2	152474840	152474840	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:152474840C>T	uc021vrb.1	-	68	10325	c.10296G>A	c.(10294-10296)acG>acA	p.T3432T	NEB_uc002txu.3_Silent_p.T3675T|NEB_uc021vrc.1_Silent_p.T3675T|NEB_uc010fnx.3_Silent_p.T3420T|NEB_uc021vrd.1_Silent_p.T3432T	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3432					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.T3432T(2)|p.T3675T(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCGGAGTGTCCGTTATACTGG	0.423000														75			40		0	0	0.009718	0	0
MPP6	51678	broad.mit.edu	37	7	24705247	24705247	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:24705247C>A	uc003swx.3	+	7	1123	c.824C>A	c.(823-825)cCa>cAa	p.P275Q	MPP6_uc003swy.3_Missense_Mutation_p.P275Q	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	275	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GGTCTCATTCCAAGCCAGTTC	0.413000														17			13		3.27435e-08	4.76656e-08	0.002450	1	0
GHR	2690	broad.mit.edu	37	5	42719241	42719241	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:42719241C>T	uc021xxv.1	+	9	1790	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	GHR_uc003jmt.3_Silent_p.I544I|GHR_uc003jmu.3_Silent_p.I544I|GHR_uc003jmv.2_Silent_p.I544I|GHR_uc021xxw.1_Silent_p.I544I|GHR_uc021xxx.1_Silent_p.I544I|GHR_uc021xxy.1_Silent_p.I544I|GHR_uc021xxz.1_Silent_p.I544I|GHR_uc021xya.1_Silent_p.I544I|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.I357I|GHR_uc021xyd.1_Silent_p.I522I	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	544					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAAGTGCATCCCTGTGGCTC	0.478000														28			4		0	0	0.009096	0	0
INPPL1	3636	broad.mit.edu	37	11	71940600	71940600	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:71940600C>T	uc001osf.3	+	5	898	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	INPPL1_uc001osg.3_Nonsense_Mutation_p.Q9*	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	251					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTGCAGCAGCAGGTAGATTG	0.577000														702			199		0	0	0.003610	0	0
SPG11	80208	broad.mit.edu	37	15	44918538	44918538	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:44918538C>T	uc001ztx.3	-	10	2266	c.2235G>A	c.(2233-2235)ttG>ttA	p.L745L	SPG11_uc010ueh.2_Silent_p.L745L|SPG11_uc010uei.2_Silent_p.L745L|SPG11_uc001zua.1_Silent_p.L745L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	745					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCATATTCTTCAAAAGTTCAG	0.274000														70			49		0	0	0.003610	0	0
PSKH2	85481	broad.mit.edu	37	8	87076749	87076749	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:87076749C>T	uc011lfy.2	-	1	297	c.297G>A	c.(295-297)agG>agA	p.R99R		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	99	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTCTACCTTCCCTCTCTCTGG	0.502000														299			170		0	0	0.003610	0	0
NLRP4	147945	broad.mit.edu	37	19	56369416	56369416	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56369416C>T	uc002qmd.4	+	2	1079	c.657C>T	c.(655-657)atC>atT	p.I219I	NLRP4_uc002qmf.3_Silent_p.I144I|NLRP4_uc010etf.3_Silent_p.I50I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	219	NACHT.						ATP binding	p.I219I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACAGAGATCGTGTCTCAAC	0.537000														225			105		0	0	0.003610	0	0
SCN5A	6331	broad.mit.edu	37	3	38647610	38647610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:38647610C>T	uc021wvo.1	-	8	1222	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	SCN5A_uc021wvk.1_Missense_Mutation_p.M390I|SCN5A_uc021wvl.1_Missense_Mutation_p.M390I|SCN5A_uc021wvm.1_Missense_Mutation_p.M390I|SCN5A_uc021wvn.1_Missense_Mutation_p.M390I|SCN5A_uc021wvp.1_Missense_Mutation_p.M390I|SCN5A_uc021wvq.1_Missense_Mutation_p.M390I|SCN5A_uc021wvr.1_Missense_Mutation_p.M390I|SCN5A_uc021wvs.1_Missense_Mutation_p.M390I|SCN5A_uc021wvt.1_Missense_Mutation_p.M390I|SCN5A_uc021wvu.1_Missense_Mutation_p.M390I|SCN5A_uc021wvv.1_Missense_Mutation_p.M390I|SCN5A_uc021wvj.1_Missense_Mutation_p.M256I|SCN5A_uc021wvi.1_Missense_Mutation_p.M256I|SCN5A_uc021wvw.1_Missense_Mutation_p.M1I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	390					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGAAGAAGATCATGTAGATCT	0.567000														236			131		0	0	0.003610	0	0
SLC6A8	6535	broad.mit.edu	37	X	152956946	152956947	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:152956946_152956947CC>TT	uc004fib.3	+	2	860_861	c.582_583CC>TT	c.(580-585)agcctg>agTTtg	p.194_195SL>SL	SLC6A8_uc004fic.3_Silent_p.194_195SL>SL|SLC6A8_uc011myx.1_Silent_p.79_80SL>SL|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Silent_p.79_80SL>SL	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	194					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCAATGCCAGCCTGGCCAACCT	0.629000														194			677		0	0	0.004672	0	0
AKNA	80709	broad.mit.edu	37	9	117108961	117108962	+	Silent	DNP	GG	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:117108961_117108962GG>TT	uc004biq.3	-	15	3636_3637	c.3501_3502CC>AA	c.(3499-3504)ctccga>ctAAga	p.1167_1168LR>LR	AKNA_uc004bin.3_Silent_p.414_415LR>LR|AKNA_uc004bio.3_Silent_p.627_628LR>LR|AKNA_uc004bip.3_Silent_p.1086_1087LR>LR|AKNA_uc004bir.3_Silent_p.1167_1168LR>LR|AKNA_uc004bis.3_Silent_p.1167_1168LR>LR|AKNA_uc010mve.2_Silent_p.1048_1049LR>LR	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGGGACAGTCGGAGCACCTCCC	0.559000														114			157		0	0	0.004672	0	0
CDH4	1002	broad.mit.edu	37	20	60485496	60485496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:60485496G>A	uc002ybn.2	+	8	1295	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	CDH4_uc002ybr.2_Missense_Mutation_p.E366K|CDH4_uc002ybp.2_Missense_Mutation_p.E329K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	403	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding	p.E403K(2)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGTCCCCGAAAACCGCGT	0.522000														239			154		0	0	0.003610	0	0
NBAS	51594	broad.mit.edu	37	2	15307436	15307436	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:15307436G>A	uc002rcc.1	-	51	6878	c.6852C>T	c.(6850-6852)tcC>tcT	p.S2284S	NBAS_uc002rcb.1_Silent_p.S124S|NBAS_uc010exl.1_Silent_p.S1356S|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2284										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGTCACAATTGGAATCATTCA	0.527000														49			37		0	0	0.009718	0	0
C8A	731	broad.mit.edu	37	1	57349169	57349169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:57349169G>A	uc001cyo.2	+	5	802	c.670G>A	c.(670-672)Gga>Aga	p.G224R		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	224	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGCAGATACTGGAATCTCCTC	0.368000														13			6		0	0	0.001168	0	0
FCGBP	8857	broad.mit.edu	37	19	40430452	40430452	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:40430452C>T	uc002omp.4	-	2	1499	c.1491G>A	c.(1489-1491)acG>acA	p.T497T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	497	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTCCACCATCGTGTACGAAC	0.682000														86			42		0	0	0.007835	0	0
SSPO	23145	broad.mit.edu	37	7	149477368	149477368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:149477368C>T	uc010lpk.3	+	11	1439	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	480	TIL 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACTGCGTCTCCCTCTGCCCA	0.672000														61			42		0	0	0.008740	0	0
ZBTB34	403341	broad.mit.edu	37	9	129643003	129643003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:129643003C>T	uc022bnn.1	+	0	1313	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	ZBTB34_uc004bqm.4_Missense_Mutation_p.P438L	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C437Y(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						AAGTGCTTTCCATTCCAAGGT	0.532000														29			82		0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100493950	100493950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:100493950C>T	uc003yiv.3	+	24	3901	c.3790C>T	c.(3790-3792)Cca>Tca	p.P1264S	VPS13B_uc003yiw.3_Missense_Mutation_p.P1264S|VPS13B_uc003yiu.1_Missense_Mutation_p.P1264S|VPS13B_uc003yix.1_Missense_Mutation_p.P734S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1264					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCTACTTCTCCAGTTAGAAG	0.468000														31			16		0	0	0.003163	0	0
DNAH8	1769	broad.mit.edu	37	6	38805727	38805727	+	Missense_Mutation	SNP	G	A	A	rs151175737	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:38805727G>A	uc021yzh.1	+	32	4484	c.4375G>A	c.(4375-4377)Gat>Aat	p.D1459N	DNAH8_uc003ooe.2_Missense_Mutation_p.D1242N	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCCAGTTTCGATGATCTGTG	0.323000														21			5		0	0	0.001168	0	0
HGD	3081	broad.mit.edu	37	3	120360505	120360505	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:120360505C>T	uc003edw.3	-	10	1270	c.810G>A	c.(808-810)ggG>ggA	p.G270G	HGD_uc003edv.3_Silent_p.G129G	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	270			G -> R (in AKU).		L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GTGTATAATTCCCGTGCCAGG	0.443000														48			23		0	0	0.002780	0	0
HLA-J	3137	broad.mit.edu	37	6	29857370	29857370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:29857370C>T	uc021ytx.1	+	0	266	c.248C>T	c.(247-249)aCc>aTc	p.T83I	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Missense_Mutation_p.T83I|HLA-G_uc021ytv.1_3'UTR|HLA-G_uc010jro.3_3'UTR					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		GAGCCCCTCACCCTGAGATGG	0.602000														267			144		0	0	0.003610	0	0
FBXO2	26232	broad.mit.edu	37	1	11709882	11709883	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:11709882_11709883CC>TT	uc009vna.3	-	3	1070_1071	c.579_580GG>AA	c.(577-582)tgggag>tgAAag	p.193_194WE>*K	FBXO2_uc001asj.3_Nonsense_Mutation_p.190_191WE>*K|FBXO2_uc009vnb.1_Non-coding_Transcript	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN	Homo sapiens F-box protein 2 (FBXO2), mRNA.	190	FBA.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|glycoprotein catabolic process	SCF ubiquitin ligase complex|cytosol|endoplasmic reticulum|membrane|microsome	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCTCCTCCCAGTAGCCCT	0.639000														368			189		0	0	0.004672	0	0
TAAR2	9287	broad.mit.edu	37	6	132939186	132939186	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:132939186G>A	uc003qdl.1	-	1	159	c.159C>T	c.(157-159)tcC>tcT	p.S53S	TAAR2_uc010kfr.1_Silent_p.S8S	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	53						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TGATGAATATGGATCCTGCCA	0.403000														7			15		0	0	0.004990	0	0
SSH2	85464	broad.mit.edu	37	17	27975269	27975269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:27975269C>T	uc002heo.1	-	12	1239	c.1239G>A	c.(1237-1239)tgG>tgA	p.W413*	SSH2_uc010wbh.1_Nonsense_Mutation_p.W440*|SSH2_uc002hep.1_Nonsense_Mutation_p.W413*	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	413	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCCAGATTCCAGCCATATT	0.483000														115			57		0	0	0.003610	0	0
HMGXB4	10042	broad.mit.edu	37	22	35660805	35660805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:35660805G>A	uc003anl.3	+	4	598	c.424G>A	c.(424-426)Gag>Aag	p.E142K	HMGXB4_uc011amh.1_Missense_Mutation_p.E33K|HMGXB4_uc003ank.3_Missense_Mutation_p.E33K	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	142					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGCCATTCGGAGAGTAAAAA	0.502000														207			151		0	0	0.003610	0	0
CDH16	1014	broad.mit.edu	37	16	66948284	66948284	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:66948284C>T	uc002eql.3	-	6	809	c.615G>A	c.(613-615)agG>agA	p.R205R	CDH16_uc010cdy.3_Silent_p.R205R|CDH16_uc021tjx.1_Silent_p.R205R|CDH16_uc002eqm.3_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	205	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCTGGTAGGTCCTCTCCAGGG	0.617000														251			128		0	0	0.003610	0	0
XYLT1	64131	broad.mit.edu	37	16	17353103	17353103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:17353103G>A	uc002dfa.3	-	2	740	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	219					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTCCCCGGGAGGCAGCACC	0.582000														285			131		0	0	0.003610	0	0
KLK5	25818	broad.mit.edu	37	19	51455882	51455882	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:51455882A>C	uc002pue.3	-	2	250	c.32T>G	c.(31-33)gTg>gGg	p.V11G	KLK5_uc002puf.3_Missense_Mutation_p.V11G|KLK5_uc002pug.3_Missense_Mutation_p.V11G	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	11					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)		AGCACAGAGCACCCACATCCA	0.622000														153			60		0	0	0.003610	0	0
OR51F1	256892	broad.mit.edu	37	11	4790956	4790956	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4790956G>A	uc010qyl.2	-	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	64						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCCTGAAGAGGAAATAATACA	0.433000														61			25		0	0	0.005443	0	0
CNST	163882	broad.mit.edu	37	1	246784911	246784911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:246784911G>A	uc001ibp.3	+	2	938	c.560G>A	c.(559-561)aGa>aAa	p.R187K	CNST_uc001ibo.4_Missense_Mutation_p.R187K	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	187					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTGGATTCAAGAGCACTTCCC	0.458000														691			229		0	0	0.003610	0	0
ACACA	31	broad.mit.edu	37	17	35563735	35563735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:35563735G>A	uc002hnm.3	-	31	3990	c.3799C>T	c.(3799-3801)Cct>Tct	p.P1267S	ACACA_uc002hnk.3_Missense_Mutation_p.P1189S|ACACA_uc002hnl.3_Missense_Mutation_p.P1209S|ACACA_uc002hnn.3_Missense_Mutation_p.P1267S|ACACA_uc002hno.3_Missense_Mutation_p.P1304S|ACACA_uc010cuy.3_5'Flank	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1267					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGCCTCAGGGAATGTGGGA	0.463000														55			39		0	0	0.002522	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216471	20216471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20216471G>A	uc010tkt.2	+	0	885	c.885G>A	c.(883-885)atG>atA	p.M295I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGATATGAAGACAGCTA	0.398000														23			5		0	0	0.001168	0	0
PLCH1	23007	broad.mit.edu	37	3	155200483	155200483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:155200483C>T	uc021xge.1	-	22	3633	c.3356G>A	c.(3355-3357)gGg>gAg	p.G1119E	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.G1081E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1119					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATGCTTTTCCCTTCCACAAA	0.463000														281			198		0	0	0.003610	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123448136	123448136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:123448136C>T	uc001pyw.2	+	1	414	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	GRAMD1B_uc001pyx.2_Missense_Mutation_p.R29C|GRAMD1B_uc010rzw.2_5'UTR|GRAMD1B_uc010rzx.1_5'UTR|GRAMD1B_uc009zbe.1_Missense_Mutation_p.R25C	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	29						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAAGCGGTCTCGCTCGCCAAC	0.657000											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			28		0	0	0.002445	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532128	16532128	+	Missense_Mutation	SNP	G	A	A	rs142369162		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16532128G>A	uc001ayc.1	-	8	1623	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	ARHGEF19_uc009voo.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	496	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCAGGCGAGCCAGGATG	0.597000														164			81		0	0	0.003610	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350699	79350699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:79350699C>T	uc002beq.3	-	2	883	c.508G>A	c.(508-510)Gag>Aag	p.E170K	RASGRF1_uc002bep.3_Missense_Mutation_p.E170K|RASGRF1_uc010blm.1_Missense_Mutation_p.E92K|RASGRF1_uc002ber.4_Missense_Mutation_p.E170K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	170					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGCTCGATCTCGATCTCCCCA	0.607000														162			133		0	0	0.003610	0	0
COG4	25839	broad.mit.edu	37	16	70543248	70543248	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:70543248G>A	uc002ezc.3	-	6	899	c.888C>T	c.(886-888)acC>acT	p.T296T	COG4_uc002ezd.3_Silent_p.T296T|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	292					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GCCCATAATAGGTCTCCACTA	0.463000														178			135		0	0	0.003610	0	0
ADCY5	111	broad.mit.edu	37	3	123010051	123010051	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:123010051T>C	uc003egh.2	-	17	3236	c.3236A>G	c.(3235-3237)aAc>aGc	p.N1079S	ADCY5_uc021xdd.1_Missense_Mutation_p.N729S|ADCY5_uc003egg.2_Missense_Mutation_p.N737S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1079	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCGGAGAAGTTGGCGATGGA	0.577000														254			135		0	0	0.003610	0	0
FOXP4	116113	broad.mit.edu	37	6	41565545	41565546	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41565545_41565546CC>TA	uc003oql.3	+	15	2210_2211	c.1752_1753CC>TA	c.(1750-1755)cccctc>ccTAtc	p.L585I	FOXP4_uc003oqm.3_Missense_Mutation_p.L583I|FOXP4_uc003oqn.3_Missense_Mutation_p.L572I|MIR4641_uc021yzk.1_5'Flank	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	585					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCAGCTTCCCCCTCCTCAACAG	0.683000											OREG0004068	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		110			62		0	0	0.004672	0	0
DLG5	9231	broad.mit.edu	37	10	79581657	79581657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:79581657C>T	uc001jzk.3	-	14	2655	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.G466E	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	862					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTGCTGCCTCCTGGGGGGCC	0.582000														349			260		0	0	0.003610	0	0
HDC	3067	broad.mit.edu	37	15	50555448	50555448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:50555448C>T	uc001zxz.3	-	1	530	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	HDC_uc010uff.2_Missense_Mutation_p.R63Q|HDC_uc010bet.2_Missense_Mutation_p.R63Q|HDC_uc010beu.2_Missense_Mutation_p.R63Q	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	63					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATGATGATTCGTTCAATGTC	0.597000														196			118		0	0	0.003610	0	0
BPTF	2186	broad.mit.edu	37	17	65908943	65908943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:65908943C>T	uc002jgf.3	+	10	5004	c.4943C>T	c.(4942-4944)tCt>tTt	p.S1648F	BPTF_uc002jge.3_Missense_Mutation_p.S1774F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1774					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACATCATCTCTGTAAAGGAG	0.512000														40			19		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9085475	9085475	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9085475G>A	uc002mkp.3	-	0	6544	c.6340C>T	c.(6340-6342)Cag>Tag	p.Q2114*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2114	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTATTCTGGGGACCATGG	0.488000														119			67		0	0	0.003610	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064812	63064812	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:63064812C>T	uc009yor.3	+	2	752	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	182						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGTTTGCTCCAGCTTGCCAT	0.418000														16			19		0	0	0.001882	0	0
COL6A5	256076	broad.mit.edu	37	3	130095514	130095514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:130095514G>A	uc010htj.1	+	2	996	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	168	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TATCTCCGTGGGGGTGCAGAA	0.502000														8			5		0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9065268	9065268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9065268G>A	uc002mkp.3	-	2	22382	c.22178C>T	c.(22177-22179)tCt>tTt	p.S7393F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7395	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCTGGGAAGATGGAGGGCT	0.512000														17			14		0	0	0.001855	0	0
LAMP5	24141	broad.mit.edu	37	20	9497006	9497006	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:9497006G>C	uc002wni.2	+	3	968	c.473G>C	c.(472-474)aGt>aCt	p.S158T	LAMP5_uc010zrc.2_Missense_Mutation_p.S114T	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	158			S -> G (in dbSNP:rs2232266).			integral to membrane											GACGCAGTCAGTGGTGAGTGG	0.557000														327			194		0	0	0.003610	0	0
INO80D	54891	broad.mit.edu	37	2	206869173	206869173	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:206869173G>A	uc002vaz.4	-	10	3408	c.3003C>T	c.(3001-3003)gcC>gcT	p.A1001A		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGTAGGAGGGGCTATAGAGC	0.542000														17			6		0	0	0.001168	0	0
CASC4	113201	broad.mit.edu	37	15	44705593	44705593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:44705593G>A	uc001ztp.3	+	9	1619	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	CASC4_uc001ztq.3_Missense_Mutation_p.D378N	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	0						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACATTTCAATGATGTCCTTTA	0.313000														215			130		0	0	0.003610	0	0
GBP7	388646	broad.mit.edu	37	1	89618368	89618368	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:89618368C>T	uc001dna.2	-	3	550	c.411G>A	c.(409-411)caG>caA	p.Q137Q	GBP2_uc001dmy.1_5'Flank	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	137						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GCTCCAGGGCCTGGTGGTTGA	0.498000														19			16		0	0	0.004007	0	0
USP17L2	377630	broad.mit.edu	37	8	11995223	11995223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:11995223C>T	uc003wvc.1	-	0	1047	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	349					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGGCATCATCCATTTTATACC	0.478000														10			31		0	0	0.009535	0	0
NF1	4763	broad.mit.edu	37	17	29685550	29685550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:29685550C>T	uc002hgg.3	+	54	8406	c.8023C>T	c.(8023-8025)Cca>Tca	p.P2675S	NF1_uc002hgh.3_Missense_Mutation_p.P2654S|NF1_uc010cso.3_Missense_Mutation_p.P863S|NF1_uc010wbt.1_Missense_Mutation_p.P153S|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2675					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGCCAAGATCCAAATTTGTT	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				59			23		0	0	0.001882	0	0
RNF19B	127544	broad.mit.edu	37	1	33402777	33402777	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:33402777T>C	uc010oho.2	-	8	1829	c.1829A>G	c.(1828-1830)gAc>gGc	p.D610G	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Missense_Mutation_p.D609G	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	610						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATGGAGCGAGTCCTCCGTGCT	0.507000														584			11		0	0	0.008291	0	0
SHROOM3	57619	broad.mit.edu	37	4	77678072	77678072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:77678072C>T	uc011cbx.2	+	7	6133	c.5180C>T	c.(5179-5181)tCa>tTa	p.S1727L	SHROOM3_uc003hkg.3_Missense_Mutation_p.S1505L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1727	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTCAGCTCTTCAGGATGTGAA	0.468000														105			134		0	0	0.003610	0	0
IPO7	10527	broad.mit.edu	37	11	9462133	9462133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:9462133G>A	uc001mho.3	+	22	2969	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	943	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GACTGCTCTGGAAGGCTATTC	0.393000														65			64		0	0	0.003610	0	0
SDK2	54549	broad.mit.edu	37	17	71395335	71395335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:71395335G>A	uc010dfm.3	-	21	3065	c.3065C>T	c.(3064-3066)tCc>tTc	p.S1022F	SDK2_uc002jjt.4_Missense_Mutation_p.S181F|SDK2_uc010dfn.2_Missense_Mutation_p.S701F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1022	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCGGGAGATGGAGGTTTTCCC	0.637000														271			158		0	0	0.003610	0	0
SLC9A5	6553	broad.mit.edu	37	16	67288959	67288959	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:67288959C>T	uc002esm.3	+	2	589	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	176					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGACTTCCTGCTGTTTGGGAG	0.572000														257			152		0	0	0.003610	0	0
MBNL1	4154	broad.mit.edu	37	3	152163105	152163105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:152163105G>A	uc003ezm.3	+	3	1373	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	MBNL1_uc003ezh.3_Missense_Mutation_p.R195Q|MBNL1_uc003ezi.3_Missense_Mutation_p.R195Q|MBNL1_uc003ezj.3_Missense_Mutation_p.R138Q|MBNL1_uc003ezl.3_Missense_Mutation_p.R195Q|MBNL1_uc003ezp.3_Missense_Mutation_p.R195Q|MBNL1_uc003ezn.3_Missense_Mutation_p.R127Q|MBNL1_uc003ezo.3_Missense_Mutation_p.R127Q|MBNL1_uc010hvp.3_Missense_Mutation_p.R103Q	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	195					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATTGCAACCGAGGAGAAAAT	0.413000														61			34		0	0	0.002445	0	0
WASH1	100287171	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:66940G>A	uc002cfg.1	-	4	1355	c.696C>T	c.(694-696)agC>agT	p.S232S		NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	219					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding	p.S232S(1)				all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCTCTCTCTTGCTGATGGACA	0.597000														190			41		0	0	0.003610	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436718	42436718	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:42436718G>A	uc001zoz.3	-	16	1997	c.1905C>T	c.(1903-1905)agC>agT	p.S635S	PLA2G4F_uc010bcq.3_5'UTR|PLA2G4F_uc001zoy.3_Silent_p.S267S|PLA2G4F_uc001zpa.3_Silent_p.S386S|PLA2G4F_uc010bcr.3_Silent_p.S386S|PLA2G4F_uc010bcs.3_Silent_p.S422S	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	635	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGAAGTTAAAGCTCTGGGCGG	0.622000														176			110		0	0	0.003610	0	0
HADHB	3032	broad.mit.edu	37	2	26477303	26477304	+	Nonsense_Mutation	DNP	AG	TA	TA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:26477303_26477304AG>TA	uc002rgz.3	+	2	321_322	c.70_71AG>TA	c.(70-72)aga>TAa	p.R24*	HADHB_uc010yku.1_Non-coding_Transcript|HADHB_uc010ykv.2_5'UTR|HADHB_uc010ykw.2_Nonsense_Mutation_p.R24*	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	24					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGCCATAAGACCTCTGAGC	0.332000														174			69		0	0	0.004672	0	0
PLXNA4	91584	broad.mit.edu	37	7	131910981	131910981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:131910981C>T	uc003vra.4	-	7	2150	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	641						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGCCGGTCTCCTTTGATTTG	0.567000														207			100		0	0	0.003610	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521665	64521665	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:64521665C>T	uc010ssp.1	+	20	2621	c.2565C>T	c.(2563-2565)ccC>ccT	p.P855P	SRGAP1_uc001srv.2_Silent_p.P792P	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	855	Poly-Pro.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GAGAGCCACCCCCTCCAGTAA	0.562000														147			106		0	0	0.003610	0	0
KCNK13	56659	broad.mit.edu	37	14	90650963	90650963	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:90650963C>T	uc001xye.1	+	1	1285	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	281						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.I281V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATCTCTATCCTCATCAAAC	0.522000														175			106		0	0	0.003610	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783481	115783481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:115783481C>T	uc003krx.4	-	19	2681	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S	SEMA6A_uc010jck.3_Missense_Mutation_p.G641S|SEMA6A_uc011cwe.2_Missense_Mutation_p.G20S|SEMA6A_uc003krv.4_Missense_Mutation_p.G68S|SEMA6A_uc003krw.4_Missense_Mutation_p.G118S|SEMA6A_uc010jcj.3_Missense_Mutation_p.G185S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	641					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGTCGTGGCCTTTGAGGTAA	0.537000														105			27		0	0	0.004656	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924320	43924320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:43924320C>T	uc010wka.2	+	0	2065	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	683						integral to membrane	aspartic-type endopeptidase activity										ACCCAGGCTCCCTTGTGAACT	0.567000														302			158		0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166897971	166897971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:166897971C>T	uc002udo.4	-	14	2412	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	SCN1A_uc010fpk.3_Missense_Mutation_p.E701K|SCN1A_uc021vsb.1_Missense_Mutation_p.E718K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	729						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGCCTGGATTCTTCAAGTTCT	0.308000														68			39		0	0	0.008740	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847746	83847746	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:83847746C>T	uc011dyy.2	+	20	4218	c.3958C>T	c.(3958-3960)Ctg>Ttg	p.L1320L	DOPEY1_uc003pjs.1_Silent_p.L1329L|DOPEY1_uc010kbl.1_Silent_p.L1320L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1329					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGTGATGGTCTGGATTTAGA	0.373000														11			12		0	0	0.000978	0	0
TEKT4	150483	broad.mit.edu	37	2	95537595	95537595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:95537595G>A	uc002stw.1	+	0	364	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	91					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACGCGCACAGTGGGCGAGCG	0.687000														126			54		0	0	0.003610	0	0
RTTN	25914	broad.mit.edu	37	18	67733128	67733128	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:67733128G>A	uc002lkp.2	-	34	4752	c.4684C>T	c.(4684-4686)Cag>Tag	p.Q1562*	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Nonsense_Mutation_p.Q650*	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1562							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACAAGTGGCTGAAATTCAGTA	0.393000														215			130		0	0	0.003610	0	0
TRIM29	23650	broad.mit.edu	37	11	120008368	120008368	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:120008368C>T	uc001pwz.3	-	0	496	c.372G>A	c.(370-372)aaG>aaA	p.K124K	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	124					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)		GCAGCTCGCCCTTTTCGGCAA	0.632000														485			457		0	0	0.003610	0	0
TYRP1	7306	broad.mit.edu	37	9	12698617	12698617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:12698617C>T	uc003zkv.4	+	3	1053	c.875C>T	c.(874-876)tCc>tTc	p.S292F		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	292					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTCTGTGACTCCTTGGAAGAT	0.388000									Oculocutaneous Albinism					13			10		0	0	0.000978	0	0
MANEAL	149175	broad.mit.edu	37	1	38265300	38265300	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:38265300T>G	uc001cby.2	+	3	880	c.799T>G	c.(799-801)Ttt>Gtt	p.F267V	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Missense_Mutation_p.F45V	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	Homo sapiens mannosidase, endo-alpha-like (MANEAL), transcript variant 3, mRNA.	267						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTCCCACTCTTTTATATCTA	0.557000														552			358		0	0	0.003610	0	0
MYH11	4629	broad.mit.edu	37	16	15815413	15815413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:15815413C>T	uc002ddx.3	-	32	4572	c.4465G>A	c.(4465-4467)Gaa>Aaa	p.E1489K	MYH11_uc002ddv.3_Missense_Mutation_p.E1489K|MYH11_uc002ddw.3_Missense_Mutation_p.E1482K|MYH11_uc002ddy.3_Missense_Mutation_p.E1482K|MYH11_uc010bvg.3_Missense_Mutation_p.E1314K|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.E188K|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1482					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCTTGGTTTCCTTCTCCCTG	0.532000			T	CBFB	AML									366			213		0	0	0.003610	0	0
MYH11	4629	broad.mit.edu	37	16	15880532	15880532	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:15880532G>A	uc002ddx.3	-	4	695	c.588C>T	c.(586-588)gcC>gcT	p.A196A	MYH11_uc002ddv.3_Silent_p.A196A|MYH11_uc002ddw.3_Silent_p.A196A|MYH11_uc002ddy.3_Silent_p.A196A|MYH11_uc010bvg.3_Missense_Mutation_p.R22C|MYH11_uc002deb.3_Silent_p.A196A	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	196	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGGCCACCACGGCCAGGTACT	0.537000			T	CBFB	AML									52			32		0	0	0.004289	0	0
KANK3	256949	broad.mit.edu	37	19	8389897	8389897	+	Missense_Mutation	SNP	C	T	T	rs35345733		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8389897C>T	uc010dwa.3	-	7	2086	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	674								p.E673E(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCATGTCCTCCTCTTCCTGC	0.632000														458			258		0	0	0.003610	0	0
NLRP11	204801	broad.mit.edu	37	19	56321645	56321645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56321645G>A	uc010ygf.2	-	4	1042	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	NLRP11_uc002qlz.3_Missense_Mutation_p.H12Y|NLRP11_uc002qmb.3_Missense_Mutation_p.H12Y|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	111							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCAAAAGTGTGACTTTCCCAT	0.383000														61			28		0	0	0.008361	0	0
CFHR1	3078	broad.mit.edu	37	1	196757491	196757491	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:196757491T>C	uc001gtl.3	+	3	663	c.576T>C	c.(574-576)tgT>tgC	p.C192C	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Silent_p.C192C|CFHR1_uc010poy.2_Intron|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	190	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAATTACATGTTTGCAAAATG	0.328000														110			59		0	0	0.003610	0	0
ABCA7	10347	broad.mit.edu	37	19	1047168	1047168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:1047168C>T	uc002lqw.4	+	14	2089	c.1858C>T	c.(1858-1860)Ctc>Ttc	p.L620F	ABCA7_uc010dsb.1_Missense_Mutation_p.L482F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	620					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGACATCCTCCCCTACAG	0.677000														104			65		0	0	0.003610	0	0
FAM50A	9130	broad.mit.edu	37	X	153678615	153678616	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:153678615_153678616CC>TT	uc004fll.4	+	11	1069_1070	c.959_960CC>TT	c.(958-960)ccc>cTT	p.P320L		NM_004699	NP_004690	Q14320	FA50A_HUMAN	Homo sapiens family with sequence similarity 50, member A (FAM50A), mRNA.	320					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACATCTTTCCCGCCAGCCGCT	0.629000														113			387		0	0	0.004672	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996845	62996845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:62996845G>A	uc001nwr.1	-	0	280	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.P94S	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	94					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TTCCACTGGGGATGGACAAAG	0.537000														35			5		0	0	0.000602	0	0
ROS1	6098	broad.mit.edu	37	6	117641174	117641174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:117641174C>T	uc003pxp.1	-	35	5996	c.5797G>A	c.(5797-5799)Gag>Aag	p.E1933K	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Missense_Mutation_p.E259K	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1933					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTTCAATCTCCTCTTGGGTT	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									6			9		0	0	0.004482	0	0
COL5A3	50509	broad.mit.edu	37	19	10114341	10114341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:10114341C>T	uc002mmq.1	-	5	835	c.749G>A	c.(748-750)gGa>gAa	p.G250E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	250	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTCCCTTTTCCCTTCCCCTT	0.587000														205			195		0	0	0.003610	0	0
LLGL2	3993	broad.mit.edu	37	17	73559867	73559867	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:73559867C>T	uc002joh.3	+	8	1015	c.861C>T	c.(859-861)ctC>ctT	p.L287L	LLGL2_uc002jog.1_Silent_p.L287L|LLGL2_uc010dgf.1_Silent_p.L287L|LLGL2_uc002joi.3_Silent_p.L287L|LLGL2_uc010dgg.2_Silent_p.L287L|LLGL2_uc002joj.3_Silent_p.L276L|LLGL2_uc010wsd.2_5'UTR|AF289551_uc002jok.3_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	287					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.L287L(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAGAATCCTCTGGCTGACCA	0.542000														495			306		0	0	0.003610	0	0
SS18L1	26039	broad.mit.edu	37	20	60737912	60737913	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:60737912_60737913GG>AA	uc011aaa.1	+	4	536_537	c.481_482GG>AA	c.(481-483)ggc>AAc	p.G161N	SS18L1_uc002ybz.1_Non-coding_Transcript|SS18L1_uc002yca.1_Non-coding_Transcript|SS18L1_uc002ycb.3_Missense_Mutation_p.G161N|SS18L1_uc002ycc.1_Non-coding_Transcript	NM_198935	NP_945173	O75177	CREST_HUMAN	Homo sapiens synovial sarcoma translocation gene on chromosome 18-like 1 (SS18L1), mRNA.	161	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CGCCTCGCAGGGCGTCCCCATG	0.649000			T	SSX1	synovial sarcoma									201			100		0	0	0.004672	0	0
UTRN	7402	broad.mit.edu	37	6	144811249	144811249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:144811249G>A	uc003qkt.3	+	29	4269	c.4177G>A	c.(4177-4179)Gag>Aag	p.E1393K		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1393	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACCCTAGAGGAGTTGAGAAG	0.448000														152			275		0	0	0.003610	0	0
MLLT6	4302	broad.mit.edu	37	17	36876005	36876005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:36876005C>T	uc002hqi.4	+	13	2025	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	MLLT6_uc002hqj.3_Missense_Mutation_p.S106F|MLLT6_uc002hqk.4_Missense_Mutation_p.S2F|MLLT6_uc021twh.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	671					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCCGCAGGTCCCCCATCAGC	0.682000			T	MLL	AL									215			126		0	0	0.003610	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83876084	83876084	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:83876084C>A	uc002bjs.1	-	1	239	c.84_splice	c.e1+1	p.R28_splice		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	Homo sapiens hepatoma-derived growth factor, related protein 3 (HDGFRP3), mRNA.	28	PWWP.				cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ggTACTCACCCGGGCCGGCCA	0.741000														39			29		1.45844e-13	2.12923e-13	0.002836	1	0
RP1	6101	broad.mit.edu	37	8	55538048	55538048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:55538048G>A	uc003xsd.1	+	3	1754	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	536					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E536K(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGAAAAAAGGAAAACAGTCT	0.338000														136			86		0	0	0.003610	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444322	84444322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:84444322G>A	uc010chj.3	+	5	555	c.466G>A	c.(466-468)Gag>Aag	p.E156K	ATP2C2_uc002fhx.3_Missense_Mutation_p.E156K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E173K|ATP2C2_uc002fhz.3_Intron	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	156					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTACAGGTCGGAGAAATCTCT	0.542000														166			107		0	0	0.003610	0	0
COL21A1	81578	broad.mit.edu	37	6	55924020	55924020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:55924020C>T	uc003pcs.3	-	28	2861	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	COL21A1_uc010jzz.3_Missense_Mutation_p.E262K|COL21A1_uc011dxg.2_Missense_Mutation_p.E250K|COL21A1_uc011dxh.2_Missense_Mutation_p.E228K|COL21A1_uc003pcr.3_Missense_Mutation_p.E234K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	877	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.E877K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCCTTTTTCCCCATTTCTT	0.448000														8			4		0	0	0.009096	0	0
ARSB	411	broad.mit.edu	37	5	78076340	78076340	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:78076340G>A	uc003kfq.3	-	7	2768	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_000046	NP_000037	P15848	ARSB_HUMAN	Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.	494					lysosomal transport|lysosome organization	lysosome	N-acetylgalactosamine-4-sulfatase activity|arylsulfatase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GCTTTGTGACGATGTGAGGAT	0.537000														95			23		0	0	0.002299	0	0
SGMS1	259230	broad.mit.edu	37	10	52103386	52103386	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:52103386C>T	uc001jje.3	-	6	1443	c.489G>A	c.(487-489)aaG>aaA	p.K163K	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Silent_p.K163K|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Silent_p.K163K|SGMS1_uc021pqo.1_Silent_p.K163K|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	169					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGCACCTCCTTAGGAGGTA	0.478000														66			38		0	0	0.005524	0	0
CSMD2	114784	broad.mit.edu	37	1	34033349	34033349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:34033349G>A	uc001bxm.1	-	52	8401	c.8224C>T	c.(8224-8226)Cct>Tct	p.P2742S	CSMD2_uc001bxn.1_Missense_Mutation_p.P2719S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2719	Sushi 18.					integral to membrane|plasma membrane	protein binding	p.P2719A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGCTCAGGAGTCCCACAG	0.537000														34			11		0	0	0.008291	0	0
STK11IP	114790	broad.mit.edu	37	2	220478553	220478554	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220478553_220478554GG>AA	uc002vml.3	+	20	2693_2694	c.2650_2651GG>AA	c.(2650-2652)ggc>AAc	p.G884N		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	884					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCCTGGCAGGCCAGAGCCTG	0.663000														349			165		0	0	0.004672	0	0
DEPDC5	9681	broad.mit.edu	37	22	32270373	32270373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:32270373G>A	uc011alu.2	+	35	3880	c.3678G>A	c.(3676-3678)atG>atA	p.M1226I	DEPDC5_uc011als.2_Missense_Mutation_p.M1126I|DEPDC5_uc003als.3_Missense_Mutation_p.M1195I|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.M1217I|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.M644I|DEPDC5_uc003alw.3_Missense_Mutation_p.M493I|DEPDC5_uc011alx.2_Missense_Mutation_p.M43I|DEPDC5_uc010gwk.3_Missense_Mutation_p.M221I|DEPDC5_uc011aly.2_Missense_Mutation_p.M43I	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1195	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACAGGCGATGGCCATTGACA	0.557000														23			12		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9077717	9077717	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9077717T>C	uc002mkp.3	-	2	9933	c.9729A>G	c.(9727-9729)gaA>gaG	p.E3243E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3244	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTGACTGGTTCCACTGTGG	0.527000														93			63		0	0	0.003610	0	0
STAT1	6772	broad.mit.edu	37	2	191874645	191874645	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:191874645C>G	uc010fse.2	-	1	517	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	STAT1_uc021vue.1_5'UTR|STAT1_uc002usj.2_Missense_Mutation_p.E29Q|STAT1_uc002usk.2_Missense_Mutation_p.E29Q|STAT1_uc002usl.2_Missense_Mutation_p.E31Q|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	29					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGTCTGATTTCCATGGGAAAA	0.413000														466			294		0	0	0.003610	0	0
DPYD	1806	broad.mit.edu	37	1	97981290	97981290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:97981290G>A	uc001drv.3	-	12	1869	c.1732C>T	c.(1732-1734)Ctt>Ttt	p.L578F		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	578					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACCTTATCAAGAGAGAAAGTT	0.333000														25			9		0	0	0.008291	0	0
SPATA25	128497	broad.mit.edu	37	20	44515309	44515309	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:44515309C>T	uc002xqf.3	-	1	540	c.531G>A	c.(529-531)ctG>ctA	p.L177L		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.	177						integral to membrane											CGGCCCAGATCAGGTCCTCTT	0.647000														455			295		0	0	0.003610	0	0
KIAA1549	57670	broad.mit.edu	37	7	138604145	138604145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:138604145G>A	uc011kql.2	-	1	276	c.227C>T	c.(226-228)tCc>tTc	p.S76F	KIAA1549_uc011kqj.2_Missense_Mutation_p.S76F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	76						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGCTCCATGGAGTATAAAGA	0.502000			O	BRAF	pilocytic astrocytoma									187			89		0	0	0.003610	0	0
C12orf40	283461	broad.mit.edu	37	12	40076547	40076547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:40076547G>A	uc001rmc.3	+	7	988	c.821G>A	c.(820-822)gGa>gAa	p.G274E	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	274										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GGGAAAAATGGAAAGGAAGTT	0.343000														75			57		0	0	0.003610	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340041	29340041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:29340041C>T	uc002kxa.2	-	0	803	c.584G>A	c.(583-585)gGt>gAt	p.G195D		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	195					transport	integral to membrane|mitochondrial inner membrane											CTTAATGGGACCTCGAAGGCC	0.473000														451			263		0	0	0.003610	0	0
RIMS2	9699	broad.mit.edu	37	8	104897710	104897710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:104897710G>A	uc003yls.3	+	1	458	c.217G>A	c.(217-219)Gac>Aac	p.D73N	RIMS2_uc003ylp.3_Missense_Mutation_p.D295N|RIMS2_uc003ylw.2_Missense_Mutation_p.D103N|RIMS2_uc003ylq.3_Missense_Mutation_p.D103N|RIMS2_uc003ylr.3_Missense_Mutation_p.D103N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	326	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.A73T(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGTTATAGGGACTCCAACAG	0.408000										HNSCC(12;0.0054)				17			9		0	0	0.006214	0	0
OR51B2	79345	broad.mit.edu	37	11	5345263	5345263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5345263C>T	uc001mao.1	-	0	320	c.265G>A	c.(265-267)Gag>Aag	p.E89K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTAATCTCCCTGTGATTC	0.493000														28			12		0	0	0.000978	0	0
DDX52	11056	broad.mit.edu	37	17	36003412	36003412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:36003412C>T	uc002hoi.2	-	0	82	c.38G>A	c.(37-39)gGg>gAg	p.G13E	DDX52_uc002hoh.2_5'UTR|DDX52_uc002hoj.1_5'Flank	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	13						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GAATTTGGCCCCCGCGCCGAG	0.627000														157			42		0	0	0.002852	0	0
BMP3	651	broad.mit.edu	37	4	81952627	81952627	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:81952627C>T	uc003hmg.4	+	0	509	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	63					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGCTGCGGCTCTATGACAGGT	0.692000														260			65		0	0	0.003610	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063217	9063217	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:9063217C>T	uc003jek.2	-	18	3012	c.2300_splice	c.e18-1	p.G767_splice		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.	767					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						CCCAGAAAGCCCTGCCAAGGA	0.522000														29			18		0	0	0.004990	0	0
STK31	56164	broad.mit.edu	37	7	23811884	23811884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:23811884G>A	uc003sws.4	+	14	2019	c.1952G>A	c.(1951-1953)aGt>aAt	p.S651N	STK31_uc003swt.4_Missense_Mutation_p.S628N|STK31_uc011jze.2_Missense_Mutation_p.S651N|STK31_uc010kuq.3_Missense_Mutation_p.S628N	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	651							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						GTTGAAAAGAGTAATTTGGAA	0.328000														31			24		0	0	0.004656	0	0
FARSA	2193	broad.mit.edu	37	19	13033639	13033639	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:13033639G>A	uc002mvs.2	-	12	1498	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	FARSA_uc010xmv.1_Silent_p.L453L	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	484					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	ACCATCTGCAGGTTCACCTTG	0.582000														565			338		0	0	0.003610	0	0
MTTP	4547	broad.mit.edu	37	4	100527936	100527936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:100527936G>A	uc011cej.2	+	10	1470	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	MTTP_uc003hvc.4_Missense_Mutation_p.G459E	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	459	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TTAATCCTGGGAGGACTTGAA	0.423000														43			14		0	0	0.002450	0	0
LIMCH1	22998	broad.mit.edu	37	4	41682052	41682052	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:41682052G>A	uc003gvz.4	+	23	3966	c.3549G>A	c.(3547-3549)ctG>ctA	p.L1183L	LIMCH1_uc003gwe.4_Silent_p.L722L|LIMCH1_uc003gvu.4_Silent_p.L799L|LIMCH1_uc003gvv.4_Silent_p.L799L|LIMCH1_uc003gvw.4_Silent_p.L798L|LIMCH1_uc003gvx.4_Silent_p.L811L|LIMCH1_uc003gvy.4_Silent_p.L627L|LIMCH1_uc003gwa.4_Silent_p.L639L|LIMCH1_uc011byu.2_Silent_p.L632L|LIMCH1_uc003gwc.4_Silent_p.L644L|LIMCH1_uc003gwd.4_Silent_p.L632L|LIMCH1_uc011byv.2_Silent_p.L549L|LIMCH1_uc011byw.2_Silent_p.L98L	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	799					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGGACAAGCTGAAAGAAGAGT	0.448000														12			9		0	0	0.006214	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289321	132289321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:132289321C>T	uc002tta.3	+	3	681	c.629C>T	c.(628-630)cCc>cTc	p.P210L	CCDC74A_uc002ttb.3_Missense_Mutation_p.P144L|CCDC74A_uc021vpq.1_Missense_Mutation_p.P210L|CCDC74A_uc021vpr.1_Missense_Mutation_p.P252L	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	210										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGAGGAGCCCCTACTTCAC	0.592000														819			80		0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38951638	38951638	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:38951638C>T	uc021wvy.1	-	7	1219	c.1020G>A	c.(1018-1020)acG>acA	p.T340T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T340T(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTCAAAATTCGTATAATTAT	0.368000														20			11		0	0	0.001855	0	0
CHL1	10752	broad.mit.edu	37	3	447275	447275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:447275G>A	uc003bot.3	+	27	4198	c.3556G>A	c.(3556-3558)Gga>Aga	p.G1186R	CHL1_uc003bou.3_Missense_Mutation_p.G1170R|CHL1_uc011asi.2_Missense_Mutation_p.G1133R	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1170					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.E1185D(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATACGGAGAGGGAGACCATGG	0.463000														34			12		0	0	0.002450	0	0
BCORL1	63035	broad.mit.edu	37	X	129190019	129190019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:129190019G>A	uc022cdu.1	+	11	5088	c.5044G>A	c.(5044-5046)Ggc>Agc	p.G1682S	BCORL1_uc004evc.2_Missense_Mutation_p.G518S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1682					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATCCCCCCCAGGCTCCTCTGA	0.622000														72			259		0	0	0.003610	0	0
FAM5B	57795	broad.mit.edu	37	1	177225096	177225096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:177225096G>A	uc001glf.3	+	2	623	c.311G>A	c.(310-312)aGg>aAg	p.R104K	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	104						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTCTGGAAAGGAAGGACTTC	0.493000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			21		0	0	0.001882	0	0
THAP9	79725	broad.mit.edu	37	4	83838849	83838849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:83838849C>T	uc003hnt.2	+	4	1603	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	THAP9_uc003hns.1_Missense_Mutation_p.S351F|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.S212F	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	495							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TATTTGTTATCCTTAGACCTG	0.348000														126			161		0	0	0.003610	0	0
FOXO1	2308	broad.mit.edu	37	13	41134072	41134072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:41134072G>A	uc001uxl.4	-	1	1941	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L	FOXO1_uc010acc.1_Missense_Mutation_p.P334L	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	519					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		ATGGGAGCTGGGATTCATCAT	0.572000														185			150		0	0	0.003610	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364595	142364595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142364595G>A	uc003vzx.3	+	1	264	c.230G>A	c.(229-231)gGa>gAa	p.G77E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Non-coding_Transcript|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		ATAAACAAAGGAGAGATCTCT	0.463000														62			48		0	0	0.003610	0	0
MINA	84864	broad.mit.edu	37	3	97669650	97669650	+	Missense_Mutation	SNP	T	G	G	rs60134263	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:97669650T>G	uc003drz.1	-	5	1374	c.868A>C	c.(868-870)Ata>Cta	p.I290L	MINA_uc003dsa.1_Missense_Mutation_p.I290L|MINA_uc003dsb.1_Missense_Mutation_p.I290L|MINA_uc003dsc.1_Missense_Mutation_p.I290L|MINA_uc010hpa.1_Non-coding_Transcript	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	290					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TGCCGGGGTATGCCGGTCCGT	0.532000														51			20		0	0	0.002299	0	0
BCL2L12	83596	broad.mit.edu	37	19	50170415	50170415	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:50170415C>A	uc002ppa.3	+	2	1181	c.499C>A	c.(499-501)Cct>Act	p.P167T	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_5'Flank|IRF3_uc021uxq.1_5'Flank|IRF3_uc002pot.2_5'Flank|IRF3_uc021uxr.1_5'Flank|IRF3_uc021uxs.1_5'Flank|IRF3_uc002pow.3_5'Flank|IRF3_uc021uxo.1_5'Flank|IRF3_uc002pou.3_5'Flank|IRF3_uc010end.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.P166T	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	167					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TGGTTTAGAGCCTGGTAAGAG	0.567000														626			300		7.02921e-85	1.03673e-84	0.003610	1	0
C3	718	broad.mit.edu	37	19	6697806	6697806	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:6697806C>T	uc002mfm.3	-	20	2503	c.2441_splice	c.e20-1	p.G814_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	814					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACACAGATCCCTGCTCGGGCA	0.577000														72			36		0	0	0.007835	0	0
OR51D1	390038	broad.mit.edu	37	11	4661414	4661414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4661414G>A	uc010qyk.2	+	0	470	c.394G>A	c.(394-396)Gct>Act	p.A132T		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGGCCATGGCTTTTGACCG	0.562000														42			25		0	0	0.002780	0	0
ANO2	57101	broad.mit.edu	37	12	5708727	5708727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:5708727G>A	uc001qnm.2	-	20	2228	c.2156C>T	c.(2155-2157)tCg>tTg	p.S719L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	724						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGGATGTTTCGAATGGGCAGA	0.453000														76			66		0	0	0.003610	0	0
C16orf79	283870	broad.mit.edu	37	16	2260031	2260031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2260031C>T	uc010bsh.3	-	3	593	c.358G>A	c.(358-360)Gag>Aag	p.E120K	C16orf79_uc002cpi.2_Missense_Mutation_p.E120K	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	120	BRICHOS.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						TGGTGCTCCTCAGGGCGGTAA	0.687000														131			82		0	0	0.003610	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386214	56386214	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:56386214G>A	uc002ivx.4	-	21	5290	c.4419C>T	c.(4417-4419)tcC>tcT	p.S1473S	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Silent_p.S1413S|BZRAP1_uc010wnt.2_Silent_p.S1473S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1473						mitochondrion	benzodiazepine receptor binding	p.S1473A(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCACCTCCGGGAAGGGCCCA	0.662000														262			208		0	0	0.003610	0	0
SYN3	8224	broad.mit.edu	37	22	33402357	33402357	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:33402357G>A	uc003amx.3	-	0	453	c.291C>T	c.(289-291)atC>atT	p.I97I	SYN3_uc003amy.3_Silent_p.I97I|SYN3_uc003amz.3_Silent_p.I97I	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	97	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGCATCATCGATCACCAACA	0.542000														271			174		0	0	0.003610	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454708	84454708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:84454708G>A	uc001vlk.3	-	0	1821	c.935C>T	c.(934-936)cCa>cTa	p.P312L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	312						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGTTGCCTGGGATCTTTGT	0.552000														183			103		0	0	0.003610	0	0
HEATR8	374977	broad.mit.edu	37	1	55174699	55174699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:55174699C>T	uc010ooe.1	+	22	4004	c.3680C>T	c.(3679-3681)cCc>cTc	p.P1227L	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.P745L|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.P428L	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1227						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCCTGGTCCCCTGCATGGAG	0.522000														373			217		0	0	0.003610	0	0
FAN1	22909	broad.mit.edu	37	15	31220836	31220836	+	Missense_Mutation	SNP	G	A	A	rs139319999		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:31220836G>A	uc001zff.3	+	10	2860	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	FAN1_uc001zfe.3_Missense_Mutation_p.D462N	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	857					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGGGATTCCGGATGTCTTCAG	0.577000								Direct reversal of damage						466			262		0	0	0.003610	0	0
PBRM1	55193	broad.mit.edu	37	3	52643485	52643485	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52643485A>T	uc003des.2	-	15	2423	c.2411T>A	c.(2410-2412)tTa>tAa	p.L804*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.L804*|PBRM1_uc003der.2_Nonsense_Mutation_p.L772*|PBRM1_uc003det.2_Nonsense_Mutation_p.L819*|PBRM1_uc003deu.2_Nonsense_Mutation_p.L819*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.L804*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.L804*|PBRM1_uc003dey.2_Nonsense_Mutation_p.L804*|PBRM1_uc003dez.1_Nonsense_Mutation_p.L804*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.L717*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.L150*|PBRM1_uc003dfc.3_Nonsense_Mutation_p.L171*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	804	Bromo 6.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATTTCTGCTAAAGAATCGCT	0.413000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									75			41		0	0	0.008740	0	0
AIDA	64853	broad.mit.edu	37	1	222860955	222860955	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:222860955A>G	uc001hnn.3	-	4	540	c.335T>C	c.(334-336)gTt>gCt	p.V112A	AIDA_uc001hno.3_Non-coding_Transcript|AIDA_uc010pus.2_Missense_Mutation_p.V88A	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	Homo sapiens axin interactor, dorsalization associated (AIDA), mRNA.	112					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GACAGGCTGAACATCAAATGG	0.264000														146			157		0	0	0.003610	0	0
SLIT3	6586	broad.mit.edu	37	5	168098256	168098256	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:168098256G>A	uc010jjg.3	-	33	4515	c.4095C>T	c.(4093-4095)ggC>ggT	p.G1365G	SLIT3_uc003mab.3_Silent_p.G1358G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1358	EGF-like 7.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCGGTCCAGCCTGGGCGGC	0.692000														76			152		0	0	0.003610	0	0
NREP	9315	broad.mit.edu	37	5	111066742	111066742	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:111066742C>T	uc011cvr.2	-	4	406	c.214_splice	c.e4-1	p.G72_splice	NREP_uc011cvs.2_Splice_Site_p.G62_splice|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Intron|NREP_uc003kpl.3_Splice_Site_p.G28_splice|NREP_uc003kpm.3_Splice_Site_p.G28_splice|NREP_uc011cvk.2_Splice_Site_p.G28_splice|NREP_uc011cvl.2_Splice_Site_p.G28_splice|NREP_uc011cvm.2_Splice_Site_p.G28_splice|NREP_uc011cvn.2_Splice_Site_p.G28_splice|NREP_uc011cvo.2_Splice_Site_p.G28_splice|NREP_uc011cvp.2_Splice_Site_p.G28_splice|NREP_uc011cvq.2_Splice_Site_p.G28_splice	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	28						cytoplasm											AGGAAGTCTTCCCTGCAAAGC	0.478000														12			7		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9070884	9070884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9070884C>T	uc002mkp.3	-	2	16766	c.16562G>A	c.(16561-16563)aGa>aAa	p.R5521K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5523	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATTTCTGTTCTGGAGGCCTG	0.507000														35			24		0	0	0.003954	0	0
CD84	8832	broad.mit.edu	37	1	160535312	160535312	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160535312C>T	uc001fwh.4	-	1	349	c.270G>A	c.(268-270)ccG>ccA	p.P90P	CD84_uc001fwf.4_Silent_p.P90P|CD84_uc009wtn.3_Silent_p.P90P|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Silent_p.P90P|CD84_uc001fwj.3_Silent_p.P90P|CD84_uc001fwk.3_Silent_p.P90P	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	90					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GATTGTAGTTCGGACCTAAGG	0.458000														85			72		0	0	0.003610	0	0
KDM4D	55693	broad.mit.edu	37	11	94731230	94731230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:94731230C>T	uc021qow.1	+	0	694	c.694C>T	c.(694-696)Cca>Tca	p.P232S	KDM4D_uc001pfe.3_Missense_Mutation_p.P232S	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	232	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGAGCTCTTCCCAGGCAGTTC	0.582000														204			60		0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518290	85518290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:85518290G>A	uc001tac.3	+	16	4111	c.4000G>A	c.(4000-4002)Gaa>Aaa	p.E1334K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.E1212K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1334								p.E1334*(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAGCCTAGTGAAAAAATGTA	0.328000														176			132		0	0	0.003610	0	0
ITLN2	142683	broad.mit.edu	37	1	160920967	160920967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160920967G>A	uc001fxd.3	-	3	365	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	ITLN2_uc009wts.3_Missense_Mutation_p.R102C|ITLN2_uc010pju.2_Missense_Mutation_p.R20C	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	103	Fibrinogen C-terminal.		R -> H (in dbSNP:rs6680969).		signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTTCCCACGCATGTCATTC	0.587000														232			72		0	0	0.003610	0	0
OR1M1	125963	broad.mit.edu	37	19	9204400	9204400	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9204400C>T	uc010xkj.2	+	0	480	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCACTCACATCCTCCTGATGG	0.597000														187			113		0	0	0.003610	0	0
FAM75C2	645961	broad.mit.edu	37	9	90745232	90745232	+	Missense_Mutation	SNP	A	T	T	rs142941527	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:90745232A>T	uc011lti.2	-	3	2749	c.2720T>A	c.(2719-2721)aTg>aAg	p.M907K	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	907																	CCCAGTAGGCATGCTCTGGAG	0.547000														131			91		0	0	0.003610	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266304	43266304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:43266304C>T	uc021yzt.1	+	0	307	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	SLC22A7_uc010jyl.1_Missense_Mutation_p.P70S|SLC22A7_uc003ous.3_Missense_Mutation_p.P70S|SLC22A7_uc003out.3_Missense_Mutation_p.P70S	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	70						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GGCCCATCTTCCCCGGGAGCC	0.662000														223			113		0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883733	228883733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:228883733C>T	uc002vpq.2	-	6	1884	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E613K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E613K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	613						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAATGGCTTCCTTGCCAAGC	0.537000														20			16		0	0	0.003163	0	0
SP140L	93349	broad.mit.edu	37	2	231222673	231222673	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:231222673A>T	uc010fxm.1	+	2	352	c.261A>T	c.(259-261)aaA>aaT	p.K87N	SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	87	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TCACAAATAAAATGTTTGAAG	0.363000														207			150		0	0	0.003610	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139334	142139334	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142139334C>T	uc003vyt.3	-	1	336	c.291G>A	c.(289-291)acG>acA	p.T97T	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCGCTGGATCGTCAGAGTGG	0.542000														84			42		0	0	0.003610	0	0
ECI1	1632	broad.mit.edu	37	16	2294496	2294497	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2294496_2294497GG>AA	uc002cpr.3	-	3	386_387	c.351_352CC>TT	c.(349-354)agcccc>agTTcc	p.P118S	ECI1_uc002cps.3_Missense_Mutation_p.P118S	NM_001919	NP_001910	P42126	ECI1_HUMAN	Homo sapiens enoyl-CoA delta isomerase 1 (ECI1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	118					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						TAGTGGGCGGGGCTCCTCCCAC	0.668000														121			65		0	0	0.004672	0	0
GDF2	2658	broad.mit.edu	37	10	48413663	48413663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:48413663G>A	uc001jfa.1	-	1	1365	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	402					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTAGAGGACGGAGATGGGGCT	0.597000														95			55		0	0	0.003610	0	0
ASMT	438	broad.mit.edu	37	X	1742137	1742137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:1742137G>A	uc004cqd.3	+	2	391	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	ASMT_uc010ncy.3_Missense_Mutation_p.G59R|ASMT_uc004cqe.3_Missense_Mutation_p.G59R	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	59					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGCGCCCATGGGACAGAGCT	0.642000														136			215		0	0	0.003610	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134505629	134505629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:134505629G>A	uc022bos.1	-	5	896	c.737C>T	c.(736-738)cCt>cTt	p.P246L	RAPGEF1_uc022bot.1_Missense_Mutation_p.P228L|RAPGEF1_uc022bou.1_Missense_Mutation_p.P233L|RAPGEF1_uc022bov.1_Missense_Mutation_p.P233L	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	228					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTACCCATCAGGCTTGCTGGC	0.612000														64			111		0	0	0.003610	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478185	14478185	+	RNA	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:14478185C>T	uc010xai.2	-	2		c.1379G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		TAGACCCATCCTTGCTCTGTG	0.453000														202			148		0	0	0.003610	0	0
BRSK1	84446	broad.mit.edu	37	19	55816724	55816724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:55816724G>A	uc002qkf.3	+	16	1928	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K	BRSK1_uc002qkg.3_Missense_Mutation_p.E585K|BRSK1_uc002qkh.3_Missense_Mutation_p.E280K	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	585					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CTTGACGCCAGAGTCCTCCCC	0.612000														268			147		0	0	0.003610	0	0
MYO7B	4648	broad.mit.edu	37	2	128381890	128381890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:128381890G>A	uc002top.3	+	28	4017	c.3964G>A	c.(3964-3966)Gag>Aag	p.E1322K	MYO7B_uc002toq.1_Missense_Mutation_p.E175K|MYO7B_uc002tor.1_Missense_Mutation_p.E175K	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1322	FERM 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTACAGCTTCGAGAAGGTGAG	0.592000														41			30		0	0	0.009535	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003629	119003629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:119003629G>A	uc001ldd.2	+	2	432	c.269G>A	c.(268-270)gGg>gAg	p.G90E	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	90					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ATGGTCACCGGGAATGCTACC	0.537000														338			156		0	0	0.003610	0	0
CDH22	64405	broad.mit.edu	37	20	44815301	44815301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:44815301C>T	uc002xrm.2	-	8	1988	c.1589G>A	c.(1588-1590)gGc>gAc	p.G530D	CDH22_uc010ghk.1_Missense_Mutation_p.G530D	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	530	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G530C(1)|p.Q529R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCGGTGCCCGCCTTGGGGCTC	0.587000														184			132		0	0	0.003610	0	0
TGM5	9333	broad.mit.edu	37	15	43552311	43552311	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:43552311C>T	uc001zrd.2	-	2	383	c.375G>A	c.(373-375)caG>caA	p.Q125Q	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	125					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACAGACCCCTGGAAGGAGT	0.612000														316			217		0	0	0.003610	0	0
KIAA0317	9870	broad.mit.edu	37	14	75151289	75151289	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:75151289G>A	uc001xqb.3	-	3	616	c.111C>T	c.(109-111)gaC>gaT	p.D37D	KIAA0317_uc010tut.1_Intron|KIAA0317_uc001xqd.1_Intron	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	37					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GGCGCTCGCGGTCCTCATTCT	0.527000														44			35		0	0	0.003755	0	0
MARCO	8685	broad.mit.edu	37	2	119735476	119735476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:119735476G>A	uc002tln.1	+	7	863	c.731G>A	c.(730-732)gGa>gAa	p.G244E	MARCO_uc010yyf.1_Missense_Mutation_p.G166E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	244	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGAAACTGGAACTAAGGGA	0.602000														29			9		0	0	0.008291	0	0
TUT1	64852	broad.mit.edu	37	11	62346322	62346323	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:62346322_62346323CC>TT	uc001nto.2	-	4	1022_1023	c.984_985GG>AA	c.(982-987)ccggac>ccAAac	p.D329N		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	291					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAGGCAGAGTCCGGAGTTTGGG	0.619000														172			165		0	0	0.004672	0	0
PTPRD	5789	broad.mit.edu	37	9	8331706	8331706	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:8331706G>A	uc003zkk.3	-	43	6153	c.5410C>T	c.(5410-5412)Cag>Tag	p.Q1804*	PTPRD_uc003zkp.3_Nonsense_Mutation_p.Q1398*|PTPRD_uc003zkq.3_Nonsense_Mutation_p.Q1397*|PTPRD_uc003zkr.3_Nonsense_Mutation_p.Q1388*|PTPRD_uc003zks.3_Nonsense_Mutation_p.Q1397*|PTPRD_uc022bdj.1_Nonsense_Mutation_p.Q1394*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1804	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCAGTGAACTGGAACTGCCTT	0.512000										TSP Lung(15;0.13)				14			10		0	0	0.008291	0	0
SDAD1	55153	broad.mit.edu	37	4	76896914	76896914	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:76896914G>A	uc003hje.4	-	5	680	c.561C>T	c.(559-561)ctC>ctT	p.L187L	SDAD1_uc003hjf.4_Silent_p.L90L|SDAD1_uc011cbr.2_Silent_p.L150L	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	187					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCCTTCTGTAGAGTTCAATCA	0.343000														142			36		0	0	0.006230	0	0
DCAF11	80344	broad.mit.edu	37	14	24587637	24587637	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:24587637C>T	uc001wlv.3	+	6	898	c.618C>T	c.(616-618)ttC>ttT	p.F206F	DCAF11_uc001wlw.3_Silent_p.F206F|DCAF11_uc001wlz.3_Silent_p.F106F|DCAF11_uc001wly.3_Silent_p.F162F|DCAF11_uc010tny.2_Silent_p.F73F|DCAF11_uc001wmc.3_Silent_p.F106F|DCAF11_uc001wmb.4_Silent_p.F180F|DCAF11_uc001wma.4_Silent_p.F206F	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	206						CUL4 RING ubiquitin ligase complex	protein binding										ATGGCCGTTTCCGTAAATTCA	0.488000														497			273		0	0	0.003610	0	0
SULT1C4	27233	broad.mit.edu	37	2	108994820	108994820	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:108994820T>C	uc002tea.1	+	0	400	c.27T>C	c.(25-27)ttT>ttC	p.F9F	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Silent_p.F9F	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	9					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TGGAGGATTTTACATTTGATG	0.438000														185			132		0	0	0.003610	0	0
AOAH	313	broad.mit.edu	37	7	36657925	36657925	+	Silent	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:36657925T>A	uc022abu.1	-	9	1130	c.729A>T	c.(727-729)ccA>ccT	p.P243P	AOAH_uc003tfh.4_Silent_p.P243P|AOAH_uc011kba.2_Silent_p.P211P	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	243					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TCTTCTCATATGGAACTCCAT	0.328000														47			30		0	0	0.006230	0	0
GOLM1	51280	broad.mit.edu	37	9	88667464	88667464	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:88667464G>A	uc004aol.3	-	3	558	c.352C>T	c.(352-354)Cga>Tga	p.R118*	GOLM1_uc010mqd.1_Intron|GOLM1_uc004aom.3_Nonsense_Mutation_p.R118*	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA.	118						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TGCAGCACTCGGATGAGCCTC	0.547000														268			478		0	0	0.003610	0	0
FGFR2	2263	broad.mit.edu	37	10	123256077	123256077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:123256077G>A	uc021pzz.1	-	12	2479	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	FGFR2_uc021pzv.1_Missense_Mutation_p.A499V|FGFR2_uc021pzw.1_Missense_Mutation_p.A496V|FGFR2_uc021pzx.1_Missense_Mutation_p.A522V|FGFR2_uc021pzy.1_Missense_Mutation_p.A612V|FGFR2_uc010qtl.2_Missense_Mutation_p.A495V|FGFR2_uc010qtm.2_Missense_Mutation_p.A494V|FGFR2_uc021qaa.1_Missense_Mutation_p.A612V|FGFR2_uc021qab.1_Missense_Mutation_p.A523V|FGFR2_uc021qac.1_Missense_Mutation_p.A540V|FGFR2_uc001lfg.4_Missense_Mutation_p.A219V	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	611	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CATGCCTCTGGCCAGCTGGTA	0.493000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					354			155		0	0	0.003610	0	0
SDK1	221935	broad.mit.edu	37	7	4051792	4051792	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:4051792A>T	uc003smx.3	+	15	2484	c.2345A>T	c.(2344-2346)aAt>aTt	p.N782I	SDK1_uc010kso.3_Missense_Mutation_p.N58I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	782	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGCGGACTAATCAGTCCATT	0.517000														400			203		0	0	0.003610	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340692	39340692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:39340692G>A	uc002hwe.4	-	1	399	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S		NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA.	139	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCAGCTGGGGCGGCAGCAA	0.537000														572			322		0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406180	105406180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:105406180G>A	uc010axc.1	-	6	15728	c.15608C>T	c.(15607-15609)tCt>tTt	p.S5203F	AHNAK2_uc021sen.1_Missense_Mutation_p.S600F|AHNAK2_uc021seo.1_Missense_Mutation_p.S201F|AHNAK2_uc001ypx.2_Missense_Mutation_p.S5103F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5203						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCCTGAAAGAGCGCCTAAG	0.562000														438			289		0	0	0.003610	0	0
SESTD1	91404	broad.mit.edu	37	2	180016105	180016105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:180016105G>A	uc002uni.4	-	5	533	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	128	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTGTTGGCGGACACTAAAAT	0.343000														20			12		0	0	0.002450	0	0
SLK	9748	broad.mit.edu	37	10	105778666	105778666	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:105778666G>A	uc001kxo.1	+	15	3166	c.3132_splice	c.e15+1	p.K1044_splice	SLK_uc001kxp.1_Splice_Site_p.K1013_splice	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	1044					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCACGAGAAGGTTAATGAAA	0.323000														109			67		0	0	0.003610	0	0
EPHA10	284656	broad.mit.edu	37	1	38188738	38188738	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:38188738G>A	uc009vvi.3	-	9	2021	c.1935C>T	c.(1933-1935)gtC>gtT	p.V645V	EPHA10_uc001cbt.3_5'Flank|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	645	Protein kinase.		V -> I (in dbSNP:rs12405650).			extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTCCAGCGTGACGCTTTTCG	0.612000														313			173		0	0	0.003610	0	0
STAG2	10735	broad.mit.edu	37	X	123220440	123220440	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:123220440C>T	uc004eua.3	+	29	3501	c.3097C>T	c.(3097-3099)Cga>Tga	p.R1033*	STAG2_uc004etz.4_Nonsense_Mutation_p.R1033*|STAG2_uc004eub.3_Nonsense_Mutation_p.R1033*|STAG2_uc004euc.3_Nonsense_Mutation_p.R1033*|STAG2_uc004eud.3_Nonsense_Mutation_p.R1033*|STAG2_uc004eue.3_Nonsense_Mutation_p.R1033*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	1033					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATGTCACTCCGAAGAGAGGA	0.413000														12			37		0	0	0.006230	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228735	57228735	+	Silent	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:57228735A>G	uc010lyk.1	-	1	810	c.172T>C	c.(172-174)Ttg>Ctg	p.L58L	SDR16C5_uc003xsy.1_Silent_p.L58L|SDR16C5_uc010lyl.1_Silent_p.L58L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	58					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GCAAACTGCAAGGCTAAGAGC	0.507000														266			174		0	0	0.003610	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569809	30569809	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:30569809G>A	uc003nqn.1	-	18	3169	c.2617C>T	c.(2617-2619)Cga>Tga	p.R873*	PPP1R10_uc010jsc.1_Nonsense_Mutation_p.R527*	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	873	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GGCGGCCCTCGATGGTCATGG	0.682000														236			144		0	0	0.003610	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481048	140481048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:140481048G>A	uc003lio.3	+	0	815	c.815G>A	c.(814-816)gGa>gAa	p.G272E	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	272	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGATACAGGAAGTTTTGGG	0.408000														208			406		0	0	0.003610	0	0
HGD	3081	broad.mit.edu	37	3	120394643	120394644	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:120394643_120394644CC>TT	uc003edw.3	-	1	542_543	c.82_83GG>AA	c.(82-84)gga>AAa	p.G28K		NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	28					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCATACCTGTCCTTCTGGCAGG	0.485000														32			26		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179497112	179497112	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179497112G>A	uc021vsy.1	-	184	36030	c.35805C>T	c.(35803-35805)ctC>ctT	p.L11935L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.L5630L|TTN_uc021vta.1_Silent_p.L5563L|TTN_uc021vtb.1_Silent_p.L5438L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12862	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACATCTTTGAGAGGGGTGA	0.358000														4			3		0	0	0.004672	0	0
CD86	942	broad.mit.edu	37	3	121828194	121828194	+	Silent	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121828194T>A	uc003eet.3	+	4	914	c.786T>A	c.(784-786)gtT>gtA	p.V262V	CD86_uc011bjo.2_Silent_p.V180V|CD86_uc011bjp.2_Silent_p.V150V|CD86_uc003eeu.3_Silent_p.V256V|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	262					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTGTGATGGTTTTCTGTCTAA	0.448000														49			33		0	0	0.002445	0	0
MXRA5	25878	broad.mit.edu	37	X	3238901	3238901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:3238901G>A	uc004crg.4	-	4	4982	c.4825C>T	c.(4825-4827)Cct>Tct	p.P1609S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1609						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTTGGCAGGGACTCTGGTT	0.493000														132			424		0	0	0.003610	0	0
PSD3	23362	broad.mit.edu	37	8	18730199	18730199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:18730199C>T	uc003wza.3	-	2	278	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	59					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCTGGAAATTCATTTGTGACA	0.483000														34			17		0	0	0.006122	0	0
SUOX	6821	broad.mit.edu	37	12	56398469	56398470	+	Missense_Mutation	DNP	CC	TT	TT	rs61733163	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56398469_56398470CC>TT	uc001six.3	+	5	1622_1623	c.1296_1297CC>TT	c.(1294-1299)ccccgg>ccTTgg	p.R433W	SUOX_uc001siy.3_Missense_Mutation_p.R433W|SUOX_uc001siz.3_Missense_Mutation_p.R433W|SUOX_uc001sja.3_Missense_Mutation_p.R433W	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	433	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCACAGAGCCCCGGGATGGAGA	0.545000														370			92		0	0	0.004672	0	0
CLTCL1	8218	broad.mit.edu	37	22	19170972	19170972	+	Silent	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:19170972G>T	uc021wle.1	-	29	4833	c.4758C>A	c.(4756-4758)gcC>gcA	p.A1586A	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Silent_p.A1529A|CLTCL1_uc011agw.1_Silent_p.A1565A|CLTCL1_uc011agt.2_Silent_p.A377A|CLTCL1_uc011agu.2_Silent_p.A283A	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1586	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGTGCCTCCAGGCCAGCTCAA	0.612000			T	?	ALCL									231			121		2.20518e-70	3.24924e-70	0.003610	1	0
C6orf15	29113	broad.mit.edu	37	6	31079247	31079247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31079247G>A	uc003nsk.1	-	1	889	c.889C>T	c.(889-891)Cct>Tct	p.P297S		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	297	Pro-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACTCCAGGAGGAAATGGGTTA	0.522000														144			105		0	0	0.003610	0	0
SGSM1	129049	broad.mit.edu	37	22	25315917	25315917	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:25315917G>A	uc003abg.2	+	24	3472	c.3315G>A	c.(3313-3315)ttG>ttA	p.L1105L	SGSM1_uc010guu.1_Silent_p.L1050L|SGSM1_uc003abh.2_Silent_p.L1044L|SGSM1_uc003abj.2_Silent_p.L989L|SGSM1_uc003abi.1_Silent_p.L1025L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1105						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACATCATTTTGGAGAACAACA	0.522000														31			20		0	0	0.007413	0	0
SCN9A	6335	broad.mit.edu	37	2	167084228	167084228	+	Silent	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:167084228A>T	uc010fpl.3	-	22	4520	c.4179T>A	c.(4177-4179)acT>acA	p.T1393T	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1404						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1392S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCCCTTAAAAGTTGCCTTTA	0.274000														15			7		0	0	0.004482	0	0
MYO5B	4645	broad.mit.edu	37	18	47432962	47432962	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:47432962G>A	uc002leb.2	-	18	2529	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	747	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.I746N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGCTCGAAAGAAGATCTTGG	0.557000														89			59		0	0	0.003610	0	0
FYB	2533	broad.mit.edu	37	5	39153647	39153647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:39153647G>A	uc003jls.3	-	1	1262	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	FYB_uc003jlt.3_Missense_Mutation_p.H399Y|FYB_uc003jlu.3_Missense_Mutation_p.H399Y|FYB_uc011cpl.2_Missense_Mutation_p.H409Y	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	399	Interaction with SKAP1.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGGCCGGATGGGATGGTGGA	0.488000														194			69		0	0	0.003610	0	0
RIMBP2	23504	broad.mit.edu	37	12	130935832	130935833	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:130935832_130935833GG>AA	uc001uil.2	-	4	576_577	c.360_361CC>TT	c.(358-363)cccctt>ccTTtt	p.L121F	RIMBP2_uc001uim.3_Missense_Mutation_p.L29F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	121						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCTGCGGAAGGGGCCGGATAT	0.550000														186			142		0	0	0.004672	0	0
NOC4L	79050	broad.mit.edu	37	12	132629495	132629495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:132629495C>T	uc001ujz.1	+	1	255	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	DDX51_uc001ujy.4_5'Flank	NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	72					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GGGCCAGCTGCCCTCTGAGGA	0.637000														91			33		0	0	0.003271	0	0
RPS2	6187	broad.mit.edu	37	16	2012222	2012222	+	Silent	SNP	G	A	A	rs145826103		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2012222G>A	uc002cnn.2	-	5	947	c.759C>T	c.(757-759)ccC>ccT	p.P253P	TCRBV20S1_uc021tak.1_Intron|RPS2_uc002cnm.2_Non-coding_Transcript|RPS2_uc002cno.2_Silent_p.P253P|SNHG9_uc002cnr.3_5'Flank|SNORA78_uc002cns.1_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	Homo sapiens ribosomal protein S2 (RPS2), mRNA.	253					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	RNA binding|fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|structural constituent of ribosome	p.P253P(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCCAGAGGTCGGGGGTCAGGT	0.547000														328			192		0	0	0.003610	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702574	27702574	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:27702574C>T	uc001itu.2	-	0	724	c.606G>A	c.(604-606)agG>agA	p.R202R		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	202					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTTCGGTGCTCCTCCTGGAGG	0.622000														525			276		0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152522801	152522801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:152522801G>A	uc021vrb.1	-	38	4863	c.4834C>T	c.(4834-4836)Cgt>Tgt	p.R1612C	NEB_uc002txu.3_Missense_Mutation_p.R1612C|NEB_uc021vrc.1_Missense_Mutation_p.R1612C|NEB_uc010fnx.3_Missense_Mutation_p.R1612C|NEB_uc021vrd.1_Missense_Mutation_p.R1612C	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1612					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTACTCACGATCAGACTGG	0.473000														199			118		0	0	0.003610	0	0
COLEC12	81035	broad.mit.edu	37	18	346625	346625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:346625C>T	uc002kkm.3	-	4	1212	c.997G>A	c.(997-999)Gag>Aag	p.E333K		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	333					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AAGCGTTCCTCCAGTTGGTTG	0.468000														110			94		0	0	0.003610	0	0
ATP2B2	491	broad.mit.edu	37	3	10370570	10370570	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:10370570C>T	uc003bvt.3	-	22	4099	c.3660G>A	c.(3658-3660)acG>acA	p.T1220T	ATP2B2_uc003bvv.3_Silent_p.T1175T|ATP2B2_uc003bvw.3_Silent_p.T1175T|ATP2B2_uc003bvs.3_Non-coding_Transcript|ATP2B2_uc010hdo.3_Silent_p.T925T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1220					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTGTGTCGGTCGTCAGGTTGA	0.602000														314			180		0	0	0.003610	0	0
PHF20L1	51105	broad.mit.edu	37	8	133848864	133848864	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:133848864T>A	uc003ytt.3	+	15	2314	c.1989T>A	c.(1987-1989)ttT>ttA	p.F663L	PHF20L1_uc011lja.2_Missense_Mutation_p.F637L	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	663							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATCAGGACTTTGATTCAACCA	0.378000														28			11		0	0	0.000978	0	0
CCL21	6366	broad.mit.edu	37	9	34709556	34709556	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:34709556C>T	uc003zvo.3	-	2	396	c.312G>A	c.(310-312)agG>agA	p.R104R		NM_002989	NP_002980	O00585	CCL21_HUMAN	Homo sapiens chemokine (C-C motif) ligand 21 (CCL21), mRNA.	104	C-terminal basic extension.				T cell costimulation|activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CCCTGTCCTTCCTGCAGCCCT	0.582000														280			147		0	0	0.003610	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548879	28548879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:28548879G>A	uc002hey.4	-	2	642	c.98C>T	c.(97-99)aCc>aTc	p.T33I		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	33					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTCCCCTGGGGTGGGAACAAC	0.532000														555			370		0	0	0.003610	0	0
TYSND1	219743	broad.mit.edu	37	10	71902467	71902467	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:71902467G>A	uc001jqr.3	-	2	1594	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	TYSND1_uc001jqq.3_Non-coding_Transcript|TYSND1_uc001jqs.3_Intron|TYSND1_uc001jqt.3_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.	480	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GTCCCCCACTGGAGCCGCTGT	0.632000														110			84		0	0	0.003610	0	0
ZNF846	162993	broad.mit.edu	37	19	9868912	9868912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9868912G>A	uc002mmb.1	-	5	1372	c.841C>T	c.(841-843)Cca>Tca	p.P281S	ZNF846_uc021uoq.1_Non-coding_Transcript|ZNF846_uc010dww.3_Missense_Mutation_p.P152S|ZNF846_uc002mmc.1_Missense_Mutation_p.P152S	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CATTTATATGGTTTTTCTCCA	0.398000														209			114		0	0	0.003610	0	0
SLC14A1	6563	broad.mit.edu	37	18	43328385	43328385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:43328385G>A	uc010dnk.3	+	9	1381	c.1159G>A	c.(1159-1161)Gct>Act	p.A387T	SLC14A1_uc002lbi.4_Missense_Mutation_p.A199T|SLC14A1_uc010xcn.2_Missense_Mutation_p.A331T|SLC14A1_uc002lbf.4_Missense_Mutation_p.A331T|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.A226T|SLC14A1_uc002lbh.4_Missense_Mutation_p.A223T|SLC14A1_uc002lbj.4_Missense_Mutation_p.A387T|SLC14A1_uc002lbk.4_Missense_Mutation_p.A331T|SLC14A1_uc021ujg.1_Nonsense_Mutation_p.W281*	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	331						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AAACTTTATGGCTGAGGTGAG	0.443000														68			49		0	0	0.003610	0	0
ZNF568	374900	broad.mit.edu	37	19	37440439	37440439	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:37440439C>T	uc002ofc.3	+	6	902	c.384C>T	c.(382-384)atC>atT	p.I128I	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Silent_p.I127I|ZNF568_uc002ofd.3_Silent_p.I64I|ZNF568_uc010efe.3_Silent_p.I64I|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	128				I -> V (in Ref. 1; CAE45810).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAACAGATCAAGAAGCAAC	0.323000														46			24		0	0	0.002780	0	0
BAI1	575	broad.mit.edu	37	8	143562623	143562623	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:143562623C>T	uc003ywm.3	+	8	2020	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	613					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)					AGGACTCATCCTGCGACGGTG	0.607000														409			278		0	0	0.003610	0	0
DLC1	10395	broad.mit.edu	37	8	13162805	13162805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:13162805G>A	uc003wwm.2	-	4	1765	c.1321C>T	c.(1321-1323)Caa>Taa	p.Q441*	DLC1_uc003wwn.3_Nonsense_Mutation_p.Q441*|DLC1_uc011kxy.2_Nonsense_Mutation_p.Q441*	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	441					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAAATACCTTGAATAGCCTGA	0.303000														105			64		0	0	0.003610	0	0
ABCD1	215	broad.mit.edu	37	X	153008675	153008675	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:153008675G>A	uc004fif.2	+	9	2265	c.1866_splice	c.e9-1	p.R622_splice		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	622	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCCCCAGGCCCAAGTACG	0.672000														118			5		0	0	0.002299	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718181	2718181	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:2718181T>C	uc002klm.4	+	17	2475	c.2286T>C	c.(2284-2286)atT>atC	p.I762I	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	762					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGAGATTATTTCGCATATTA	0.303000														66			57		0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38770082	38770082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:38770082G>A	uc003ciq.3	-	14	2591	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	864					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGGCATATGGATTTTTGGCC	0.527000														68			30		0	0	0.002445	0	0
DNAJB9	4189	broad.mit.edu	37	7	108213754	108213754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:108213754G>A	uc003vfn.3	+	2	998	c.629G>A	c.(628-630)aGa>aAa	p.R210K		NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 9 (DNAJB9), mRNA.	210					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						ACTCAACGAAGAGGAAATATG	0.378000														335			180		0	0	0.003610	0	0
LIFR	3977	broad.mit.edu	37	5	38482297	38482297	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:38482297C>T	uc010ive.1	-	19	3026	c.2694G>A	c.(2692-2694)ttG>ttA	p.L898L	LIFR_uc003jli.2_Silent_p.L898L	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	898					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GATTCATTTCCAATGTTTTAA	0.363000			T	PLAG1	salivary adenoma									45			34		0	0	0.002445	0	0
NOD2	64127	broad.mit.edu	37	16	50733554	50733554	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:50733554C>T	uc002egm.1	+	1	334	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	NOD2_uc010cbj.1_Silent_p.L50L|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Silent_p.L50L|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	77	CARD 1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTTCCACCTCCTGGGCCAGCC	0.632000														355			200		0	0	0.003610	0	0
ZNF687	57592	broad.mit.edu	37	1	151260472	151260472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151260472C>T	uc001exq.3	+	1	1803	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	ZNF687_uc001exp.1_Missense_Mutation_p.R578C|ZNF687_uc009wmo.3_Missense_Mutation_p.R569C|ZNF687_uc009wmp.3_Missense_Mutation_p.R569C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCGCCCGCCGCCTGGTCTT	0.592000														656			228		0	0	0.003610	0	0
SUSD5	26032	broad.mit.edu	37	3	33249379	33249379	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:33249379G>A	uc003cfo.1	-	2	748	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	110	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGCTCTCATGATTTGCTGTT	0.418000														198			109		0	0	0.003610	0	0
RET	5979	broad.mit.edu	37	10	43615054	43615054	+	Missense_Mutation	SNP	G	A	A	rs142779213		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:43615054G>A	uc001jal.3	+	13	2658	c.2468G>A	c.(2467-2469)gGg>gAg	p.G823E	RET_uc001jak.1_Missense_Mutation_p.G823E|RET_uc010qez.1_Missense_Mutation_p.G569E	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	823	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCAAAGTGGGGCCTGGCTAC	0.687000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					178			120		0	0	0.003610	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509297	71509297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:71509297G>A	uc004agu.3	+	7	819	c.514G>A	c.(514-516)Gga>Aga	p.G172R	PIP5K1B_uc011lrq.2_Missense_Mutation_p.G172R|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	172	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAAATTTTACGGACTGTATTG	0.328000														10			16		0	0	0.007413	0	0
MAPK3	5595	broad.mit.edu	37	16	30128045	30128045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30128045C>T	uc002dws.3	-	7	1184	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Missense_Mutation_p.E248K|MAPK3_uc002dwv.4_Missense_Mutation_p.E318K|MAPK3_uc002dwt.3_3'UTR	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	362					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	p.E362*(1)								Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	AAGATGAGCTCCTTCAGCCGC	0.637000														475			372		0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90136565	90136565	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:90136565C>T	uc003kju.3	+	77	16878	c.16782C>T	c.(16780-16782)cgC>cgT	p.R5594R	GPR98_uc003kjt.3_Silent_p.R3300R|GPR98_uc003kjw.3_Silent_p.R1255R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5594					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCCTAAACGCTTCCAGATTG	0.448000														513			124		0	0	0.003610	0	0
SYTL2	54843	broad.mit.edu	37	11	85468696	85468696	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:85468696G>A	uc010rth.2	-	0	462	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SYTL2_uc010rtg.2_Silent_p.L25L|SYTL2_uc010rti.2_Silent_p.L25L|SYTL2_uc010rtj.2_Intron|SYTL2_uc001pbf.4_Silent_p.L25L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	25	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCCCTCTTCAGAGCAGCATCC	0.478000														161			48		0	0	0.003610	0	0
OR13A1	79290	broad.mit.edu	37	10	45799539	45799539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:45799539G>A	uc001jcc.1	-	3	641	c.332C>T	c.(331-333)tCc>tTc	p.S111F	OR13A1_uc001jcd.1_Missense_Mutation_p.S107F|OR13A1_uc021ppq.1_Missense_Mutation_p.S111F	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCCCCCGTAGGAGATGGAGCT	0.557000														77			52		0	0	0.003610	0	0
NUP210P1	255330	broad.mit.edu	37	3	126386006	126386006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:126386006G>A	uc003eje.1	+	3	458	c.214G>A	c.(214-216)Ggc>Agc	p.G72S						Homo sapiens nucleoporin 210kDa pseudogene 1 (NUP210P1), non-coding RNA.																		AGCTTCTGGGGGCATTCCCAG	0.527000														57			22		0	0	0.010504	0	0
TMEM100	55273	broad.mit.edu	37	17	53798339	53798339	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:53798339G>A	uc002iuj.4	-	1	404	c.93C>T	c.(91-93)atC>atT	p.I31I	TMEM100_uc002iuk.4_Silent_p.I31I|TMEM100_uc021uai.1_Silent_p.I31I	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	31						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GGACTGTGGTGATCACAACTT	0.537000														66			26		0	0	0.006320	0	0
ENC1	8507	broad.mit.edu	37	5	73931914	73931914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:73931914G>A	uc003kdc.4	-	1	1528	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	ENC1_uc011css.2_Missense_Mutation_p.R60W|ENC1_uc021yao.1_Missense_Mutation_p.R133W	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	133					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CATGCATCCCGGATGTCTTGA	0.532000														430			85		0	0	0.003610	0	0
NRXN1	9378	broad.mit.edu	37	2	50699459	50699459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:50699459C>T	uc021vhh.1	-	14	4142	c.3221G>A	c.(3220-3222)gGa>gAa	p.G1074E	NRXN1_uc002rxb.4_Missense_Mutation_p.G746E|NRXN1_uc021vhg.1_Missense_Mutation_p.G1114E|NRXN1_uc021vhi.1_Missense_Mutation_p.G1110E|NRXN1_uc021vhj.1_Missense_Mutation_p.G1070E|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1074	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G1115V(1)|p.G1114V(1)|p.G1074V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCGATCTGTCCGTTGCAGAA	0.438000														32			20		0	0	0.010504	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334334	37334334	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:37334334G>A	uc003aqa.4	+	13	2701	c.2484G>A	c.(2482-2484)ctG>ctA	p.L828L	CSF2RB_uc003aqc.4_Silent_p.L834L	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	828					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCCCCGGCCTGGGGCCCGGCC	0.637000														596			320		0	0	0.003610	0	0
ZNF695	57116	broad.mit.edu	37	1	247150635	247150635	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:247150635G>A	uc009xgu.3	-	3	1367	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	394					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCTGAATAAGGTATGAGAACC	0.393000														123			97		0	0	0.003610	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874621	88874621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:88874621G>A	uc002stc.4	-	12	2682	c.2380C>T	c.(2380-2382)Cct>Tct	p.P794S		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	794	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CTTACATAAGGAGAAGCTTCA	0.443000														240			170		0	0	0.003610	0	0
CDK13	8621	broad.mit.edu	37	7	40041554	40041554	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:40041554T>C	uc003thh.4	+	4	2559	c.2277T>C	c.(2275-2277)ctT>ctC	p.L759L	CDK13_uc003thi.4_Silent_p.L759L|CDK13_uc011kbf.2_Silent_p.L145L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	759	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCCGGCAGCTTACCCATCAGA	0.343000														73			29		0	0	0.005443	0	0
RIMS1	22999	broad.mit.edu	37	6	72955546	72955546	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:72955546C>G	uc003pga.3	+	10	2187	c.2110C>G	c.(2110-2112)Cac>Gac	p.H704D	RIMS1_uc011dyb.2_Missense_Mutation_p.H330D|RIMS1_uc003pgc.3_Missense_Mutation_p.H330D|RIMS1_uc010kaq.3_Missense_Mutation_p.H178D|RIMS1_uc011dyc.2_Missense_Mutation_p.H178D|RIMS1_uc010kar.3_Missense_Mutation_p.H97D|RIMS1_uc011dyd.2_Missense_Mutation_p.H163D|RIMS1_uc003pgb.4_Missense_Mutation_p.H330D|RIMS1_uc010kas.1_Missense_Mutation_p.H163D	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	704					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGAGAGCTCCCACCCTCCACT	0.363000														18			3		0	0	0.000602	0	0
OR2L13	284521	broad.mit.edu	37	1	248262730	248262730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:248262730C>T	uc001ids.3	+	2	390	c.53C>T	c.(52-54)cCc>cTc	p.P18L	OR2L13_uc021pmc.1_Missense_Mutation_p.P18L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P18P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGTCTGCTTCCCCCAAATCAA	0.403000														206			48		0	0	0.003610	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032418	142032418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142032418C>T	uc011krs.1	+	1	271	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		ATCGGGGCTTCCCCGTGATCG	0.552000														10			3		0	0	0.009096	0	0
LAMB3	3914	broad.mit.edu	37	1	209796891	209796891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:209796891C>T	uc001hhg.3	-	14	2707	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	LAMB3_uc009xco.3_Missense_Mutation_p.E773K|LAMB3_uc001hhh.3_Missense_Mutation_p.E773K|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	773	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GAAGACATCTCCAGCCTCAGG	0.642000														368			373		0	0	0.003610	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584797	72584797	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:72584797G>A	uc002jkz.2	-	1	261	c.232C>T	c.(232-234)Cga>Tga	p.R78*	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	78	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						ATGGAAACTCGATTCTTCTTT	0.448000														216			118		0	0	0.003610	0	0
PRR21	643905	broad.mit.edu	37	2	240982270	240982270	+	Missense_Mutation	SNP	C	T	T	rs71420284		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:240982270C>T	uc010zod.2	-	0	130	c.130G>A	c.(130-132)Ggc>Agc	p.G44S		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	Homo sapiens proline rich 21 (PRR21), mRNA.	44	Pro-rich.							p.H43H(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GGTGAAGAGCCGTGGATGAAG	0.582000														125			88		0	0	0.003610	0	0
ZNF627	199692	broad.mit.edu	37	19	11728690	11728690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11728690C>T	uc002msk.2	+	3	1580	c.1372C>T	c.(1372-1374)Cca>Tca	p.P458S		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTCAGTTGTCCCAGTTCTTTC	0.418000														141			67		0	0	0.003610	0	0
ACACB	32	broad.mit.edu	37	12	109644522	109644522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:109644522C>T	uc001tob.3	+	19	3040	c.2921C>T	c.(2920-2922)cCg>cTg	p.P974L	ACACB_uc001toc.3_Missense_Mutation_p.P974L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	974					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAGGCTGAACCGTTCACAGGA	0.567000														704			141		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61829923	61829923	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61829923T>G	uc001jky.3	-	36	11054	c.10716A>C	c.(10714-10716)gaA>gaC	p.E3572D	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3572					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGAGCGGTCTTCTACCGCCA	0.483000														21			9		0	0	0.008291	0	0
AHSA2	130872	broad.mit.edu	37	2	61413791	61413791	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:61413791T>A	uc002sbb.2	+	6	1542	c.284T>A	c.(283-285)cTa>cAa	p.L95Q	AHSA2_uc002sbc.2_Missense_Mutation_p.L95Q	NM_152392	NP_689605	Q719I0	AHSA2_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) (AHSA2), mRNA.	257					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			GTGCCTACTCTAGGGCAAACA	0.338000														145			87		0	0	0.003610	0	0
TTYH3	80727	broad.mit.edu	37	7	2692625	2692625	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:2692625G>A	uc003smp.3	+	8	1188	c.1001G>A	c.(1000-1002)tGg>tAg	p.W334*	TTYH3_uc010ksn.3_Nonsense_Mutation_p.W54*|TTYH3_uc003smq.3_Nonsense_Mutation_p.W163*	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	334						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		ACCGTCCCCTGGGAGCAGCCG	0.602000														91			45		0	0	0.003610	0	0
UNC93A	54346	broad.mit.edu	37	6	167721271	167721272	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:167721271_167721272GG>AA	uc003qvq.3	+	6	1156_1157	c.981_982GG>AA	c.(979-984)gcggtg>gcAAtg	p.V328M	UNC93A_uc003qvr.3_Missense_Mutation_p.V286M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	328						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCCAGGCGCGGTGACCCACGT	0.624000														118			111		0	0	0.004672	0	0
MYLK	4638	broad.mit.edu	37	3	123451843	123451843	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:123451843G>A	uc003ego.3	-	10	1698	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	MYLK_uc011bjw.2_Silent_p.L472L|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Silent_p.L472L|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Silent_p.L296L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	472	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAGCAGGCAGAGGTAATGGG	0.577000														64			40		0	0	0.004878	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834498	101834498	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:101834498C>T	uc003knn.3	-	0	223	c.51G>A	c.(49-51)agG>agA	p.R17R	SLCO6A1_uc003kno.3_Silent_p.R17R|SLCO6A1_uc003knp.3_Silent_p.R17R|SLCO6A1_uc003knq.3_Silent_p.R17R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	17						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCTCTACTCCCCTTGAGACTT	0.677000														762			151		0	0	0.003610	0	0
C1orf168	199920	broad.mit.edu	37	1	57216728	57216728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:57216728G>A	uc001cym.4	-	8	1782	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	459										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTGGCCTTGGGAGTGCCTGGC	0.428000														27			15		0	0	0.004990	0	0
FCRL4	83417	broad.mit.edu	37	1	157548633	157548634	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:157548633_157548634GG>AA	uc001fqw.3	-	8	1422_1423	c.1286_1287CC>TT	c.(1285-1287)ccc>cTT	p.P429L	FCRL4_uc010phy.2_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	429						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGCCTGGAGCGGGAGGGAGCCT	0.545000														10			20		0	0	0.004672	0	0
HTR2C	3358	broad.mit.edu	37	X	114141940	114141940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:114141940C>T	uc004epu.1	+	5	2067	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S	HTR2C_uc010nqc.1_Missense_Mutation_p.P447S|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	447					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCAGTAAATCCCTCCAGTGT	0.413000														9			25		0	0	0.005443	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351173	47351173	+	RNA	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:47351173C>T	uc001cqo.1	-	3		c.488G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGAATATTTTCAGAATGCTGA	0.478000														17			15		0	0	0.002450	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681102	73681102	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:73681102C>T	uc001ouo.3	+	7	1645	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	298					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ACATCCAGTTCCCCACCCGCC	0.597000														388			381		0	0	0.003610	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290886	20290886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:20290886G>A	uc001iqg.1	+	1	932	c.295G>A	c.(295-297)Gat>Aat	p.D99N	PLXDC2_uc001iqh.1_Missense_Mutation_p.D99N	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	99						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GCTGCTGGATGATGGGCAGGA	0.443000														15			4		0	0	0.000602	0	0
GRIA1	2890	broad.mit.edu	37	5	153054110	153054110	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:153054110G>A	uc011dcy.2	+	5	807	c.780G>A	c.(778-780)gtG>gtA	p.V260V	GRIA1_uc003lva.4_Silent_p.V250V|GRIA1_uc003luy.4_Silent_p.V250V|GRIA1_uc003luz.4_Silent_p.V155V|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.V170V|GRIA1_uc011dcx.2_Silent_p.V181V|GRIA1_uc011dcz.2_Silent_p.V260V|GRIA1_uc010jia.1_Silent_p.V230V	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	250					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCGCCAATGTGACAGGTTTCC	0.502000														32			55		0	0	0.003610	0	0
DCAF8	50717	broad.mit.edu	37	1	160209837	160209838	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160209837_160209838GG>AA	uc001fvo.2	-	3	684_685	c.372_373CC>TT	c.(370-375)aaccgt>aaTTgt	p.R125C	DCAF8_uc001fvn.2_Missense_Mutation_p.R125C|DCAF8_uc009wth.2_Missense_Mutation_p.R125C|DCAF8_uc010pjb.1_Missense_Mutation_p.R125C|DCAF8_uc010pjc.1_Missense_Mutation_p.R279C|DCAF8_uc001fvq.4_Missense_Mutation_p.R125C|DCAF8_uc001fvp.4_Missense_Mutation_p.R125C	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	125						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCTGGTCACGGTTAGCCCGCT	0.589000														82			116		0	0	0.004672	0	0
MICAL3	57553	broad.mit.edu	37	22	18368808	18368808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:18368808G>A	uc002zng.4	-	15	2430	c.2077C>T	c.(2077-2079)Cct>Tct	p.P693S	MICAL3_uc011agl.2_Missense_Mutation_p.P693S|MICAL3_uc002znh.2_Missense_Mutation_p.P693S|MICAL3_uc002znj.1_Missense_Mutation_p.P393S|MICAL3_uc002znk.1_Missense_Mutation_p.P693S|MICAL3_uc002znl.1_Missense_Mutation_p.P326S|MICAL3_uc002znm.3_Missense_Mutation_p.P194S|MICAL3_uc010grf.3_Missense_Mutation_p.P693S	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	693						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGCCCCGAGGAGCTTCCTCC	0.597000														416			269		0	0	0.003610	0	0
VPS37A	137492	broad.mit.edu	37	8	17132465	17132466	+	Missense_Mutation	DNP	CC	TT	TT	rs145870117		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:17132465_17132466CC>TT	uc003wxj.3	+	4	993_994	c.640_641CC>TT	c.(640-642)ccg>TTg	p.P214L	VPS37A_uc003wxk.3_Missense_Mutation_p.P189L|VPS37A_uc003wxl.3_5'UTR	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog A (S. cerevisiae) (VPS37A), transcript variant 1, mRNA.	214					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		TGCTTCAATACCGGTTGGTATC	0.426000														117			62		0	0	0.004672	0	0
INTS2	57508	broad.mit.edu	37	17	59958411	59958411	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:59958411C>T	uc002izn.3	-	16	2311	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	INTS2_uc002izm.3_Silent_p.L737L	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	745					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.L744L(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CATTATTAGTCAGGAGCATTC	0.403000														97			64		0	0	0.003610	0	0
PRLR	5618	broad.mit.edu	37	5	35065776	35065776	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:35065776G>A	uc003jjm.3	-	9	1843	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.S327S|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	428					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.R427K(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTGGTAAGAGGATCTGGGGT	0.493000														97			58		0	0	0.003610	0	0
CCNF	899	broad.mit.edu	37	16	2499286	2499286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2499286C>T	uc002cqd.1	+	11	1310	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	CCNF_uc002cqe.1_Missense_Mutation_p.P100S	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	408					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TGTCTAGGTCCCCACTGTGGT	0.652000														385			234		0	0	0.003610	0	0
CACNA1I	8911	broad.mit.edu	37	22	39996602	39996602	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:39996602G>A	uc003ayc.3	+	2	426	c.426G>A	c.(424-426)aaG>aaA	p.K142K	CACNA1I_uc003ayd.3_Silent_p.K142K|CACNA1I_uc003aye.3_Silent_p.K57K|CACNA1I_uc003ayf.3_Silent_p.K57K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	142					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTTTTGGCAAGAAGTGCTACC	0.562000														218			137		0	0	0.003610	0	0
CD1D	912	broad.mit.edu	37	1	158152078	158152078	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158152078G>A	uc001frr.3	+	3	1084	c.585G>A	c.(583-585)ggG>ggA	p.G195G	CD1D_uc009wsr.1_Silent_p.G195G|CD1D_uc009wss.3_Silent_p.G195G|CD1D_uc009wst.1_Silent_p.G91G	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	195	Ig-like.				T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTGAGTCAGGGAAGTCGGAAC	0.542000														724			223		0	0	0.003610	0	0
SWT1	54823	broad.mit.edu	37	1	185175888	185175888	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:185175888C>T	uc001grg.4	+	12	2079	c.1965C>T	c.(1963-1965)ctC>ctT	p.L655L	SWT1_uc001grh.4_Silent_p.L655L	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	655										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACAAAAATCTCCGTAAAGGTA	0.303000														30			31		0	0	0.002836	0	0
TNS4	84951	broad.mit.edu	37	17	38636963	38636963	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38636963T>G	uc010cxb.3	-	8	1894	c.1730A>C	c.(1729-1731)aAg>aCg	p.K577T	TNS4_uc002huu.4_Missense_Mutation_p.E46D	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	577	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CGCAGATTTCTTCTGGCAGGA	0.632000														176			92		0	0	0.003610	0	0
WDFY3	23001	broad.mit.edu	37	4	85696089	85696089	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:85696089G>A	uc003hpd.3	-	28	5046	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1546						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCAGCTTTGGGATTAACTGGA	0.378000														71			116		0	0	0.003610	0	0
DCDC2	51473	broad.mit.edu	37	6	24291202	24291202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:24291202C>T	uc003ndx.3	-	4	964	c.662G>A	c.(661-663)aGt>aAt	p.S221N	DCDC2_uc003ndy.3_Missense_Mutation_p.S221N	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	221	Doublecortin 2.		S -> G (in dbSNP:rs2274305).		cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAGTAACTCACTGTAAGGCAG	0.408000														56			26		0	0	0.003954	0	0
LUZP2	338645	broad.mit.edu	37	11	25004772	25004772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:25004772C>T	uc001mqs.3	+	8	972	c.698C>T	c.(697-699)cCa>cTa	p.P233L	LUZP2_uc009yif.3_Missense_Mutation_p.P147L|LUZP2_uc009yig.3_Missense_Mutation_p.P191L	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	233						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACATCAAATCCAACTCGGATG	0.453000														25			18		0	0	0.006122	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580751	11580751	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:11580751C>T	uc001ash.4	+	9	2346	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	PTCHD2_uc001asi.1_Silent_p.F736F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	736					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGGGCTGTTCGTCTCCATCC	0.657000														297			165		0	0	0.003610	0	0
SPATA13	221178	broad.mit.edu	37	13	24876758	24876758	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:24876758C>T	uc001upd.2	+	14	4259	c.3681C>T	c.(3679-3681)gcC>gcT	p.A1227A	SPATA13_uc001upe.3_Intron|SPATA13_uc021rhg.1_Silent_p.A1227A|SPATA13_uc001upg.2_Silent_p.A602A|SPATA13_uc010tcy.1_Missense_Mutation_p.P550S|SPATA13_uc010tcz.2_Silent_p.A486A|SPATA13_uc010tdb.2_Silent_p.A462A|SPATA13_uc010tda.2_Silent_p.A546A|SPATA13_uc001uph.3_Silent_p.A524A|SPATA13_uc009zzz.2_Missense_Mutation_p.P160S	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	602					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCCTGTGGCCCCACCGCACC	0.587000														455			251		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113237040	113237040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:113237040C>T	uc003ynu.3	-	70	11243	c.11084G>A	c.(11083-11085)cGa>cAa	p.R3695Q	CSMD3_uc003yns.3_Missense_Mutation_p.R2897Q|CSMD3_uc003ynt.3_Missense_Mutation_p.R3655Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R3526Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3695						integral to membrane|plasma membrane		p.V3694E(1)|p.V3694A(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGATCAAATCGTACCGCCTT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				135			59		0	0	0.003610	0	0
BTAF1	9044	broad.mit.edu	37	10	93718859	93718859	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:93718859T>C	uc001khr.3	+	8	1036	c.938T>C	c.(937-939)cTt>cCt	p.L313P	BTAF1_uc009xua.1_Non-coding_Transcript|BTAF1_uc001khs.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	313					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGGGAAATTCTTAAAGCTCAT	0.358000														143			61		0	0	0.003610	0	0
ABCB11	8647	broad.mit.edu	37	2	169792784	169792784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:169792784C>T	uc002ueo.1	-	21	2896	c.2770G>A	c.(2770-2772)Gga>Aga	p.G924R	ABCB11_uc010zda.1_Missense_Mutation_p.G366R|ABCB11_uc010zdb.1_Missense_Mutation_p.G400R	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	924	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GAGGCAAATCCTGTCAACATC	0.493000														31			12		0	0	0.002450	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414147	38414147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:38414147C>T	uc004aba.3	-	1	537	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	172	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GACAGGCCCACCTGCGCCCCG	0.577000														307			144		0	0	0.003610	0	0
CACNG1	786	broad.mit.edu	37	17	65041002	65041003	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:65041002_65041003GG>AA	uc002jfu.3	+	0	351_352	c.226_227GG>AA	c.(226-228)ggg>AAg	p.G76K		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	76					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P75A(1)		breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CACCCTGCCCGGGGGTAACGTA	0.644000														129			58		0	0	0.004672	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011854	46011854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:46011854G>A	uc002zfm.3	-	0	533	c.512C>T	c.(511-513)tCg>tTg	p.S171L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	171	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CTGGCAGCACGAAGAGGAAAT	0.642000														229			393		0	0	0.003610	0	0
NOP56	10528	broad.mit.edu	37	20	2636010	2636010	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2636010C>T	uc002wgh.3	+	5	738	c.609C>T	c.(607-609)atC>atT	p.I203I	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Silent_p.I37I	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	203					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGGTGAAGATCATCAACGACA	0.517000														532			351		0	0	0.003610	0	0
ITGB4	3691	broad.mit.edu	37	17	73723294	73723294	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:73723294C>T	uc002jpg.3	+	2	286	c.99C>T	c.(97-99)gcC>gcT	p.A33A	ITGB4_uc002jph.3_Silent_p.A33A|ITGB4_uc010dgo.3_Silent_p.A33A|ITGB4_uc002jpi.4_Silent_p.A33A|ITGB4_uc010dgp.1_Silent_p.A33A|ITGB4_uc002jpj.3_Silent_p.A33A	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	33	PSI.				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)			GCAAGAAGGCCCCAGTGAAGA	0.607000														113			47		0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52539159	52539159	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52539159G>A	uc003dej.3	+	13	1592	c.1518_splice	c.e13+1	p.K506_splice	STAB1_uc003dei.1_Splice_Site_p.K506_splice	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	506	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGATCCCAAGGTGAGCCAGC	0.617000														532			338		0	0	0.003610	0	0
FRMPD1	22844	broad.mit.edu	37	9	37737191	37737191	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:37737191C>T	uc004aag.1	+	13	1544	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	FRMPD1_uc004aah.1_Silent_p.F500F|FRMPD1_uc011lqm.2_Silent_p.F322F|FRMPD1_uc011lqn.2_Silent_p.F369F	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	500						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTCCATTTTCCTCTGGCCTG	0.522000														204			130		0	0	0.003610	0	0
ZNF229	7772	broad.mit.edu	37	19	44933888	44933888	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:44933888C>T	uc002oze.1	-	5	1502	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ZNF229_uc010ejk.1_Silent_p.K10K|ZNF229_uc010ejl.1_Silent_p.K350K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACCTGAACCCCTTTCCACAGA	0.512000														95			44		0	0	0.002522	0	0
AMN	81693	broad.mit.edu	37	14	103395162	103395162	+	Silent	SNP	G	A	A	rs141455061	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:103395162G>A	uc001ymg.4	+	4	396	c.363G>A	c.(361-363)ggG>ggA	p.G121G	AMN_uc001ymh.4_Silent_p.G67G	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	Homo sapiens amnionless homolog (mouse) (AMN), mRNA.	121					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCGCTCTGGGGACGAGGCAC	0.677000														177			98		0	0	0.003610	0	0
PLCL2	23228	broad.mit.edu	37	3	17053498	17053498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:17053498G>A	uc011awc.2	+	2	2732	c.2636G>A	c.(2635-2637)gGa>gAa	p.G879E	PLCL2_uc011awd.2_Missense_Mutation_p.G761E	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	887					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGAGGAGGAGGAAAGCCTCAT	0.478000														28			24		0	0	0.003330	0	0
POFUT1	23509	broad.mit.edu	37	20	30803152	30803152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:30803152G>A	uc002wxp.3	+	2	376	c.327G>A	c.(325-327)atG>atA	p.M109I	POFUT1_uc002wxo.3_Missense_Mutation_p.M109I|POFUT1_uc010ztt.2_Missense_Mutation_p.M1I|POFUT1_uc010ztu.2_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	109					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGGATTTCATGGAGAAGCTGG	0.572000														388			250		0	0	0.003610	0	0
MUC2	4583	broad.mit.edu	37	11	1087447	1087447	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:1087447G>A	uc001lsx.1	+	23	3225	c.3198G>A	c.(3196-3198)gtG>gtA	p.V1066V		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1066						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTCCCCAGGTGGACCCCAAGC	0.672000														256			97		0	0	0.003610	0	0
CCDC11	220136	broad.mit.edu	37	18	47777856	47777856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:47777856G>A	uc002lee.2	-	3	863	c.772C>T	c.(772-774)Ctt>Ttt	p.L258F		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	258										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CCCACCACAAGGCGTGCCTCC	0.542000														205			149		0	0	0.003610	0	0
C19orf35	374872	broad.mit.edu	37	19	2278609	2278610	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:2278609_2278610CC>TT	uc002lvn.2	-	2	685_686	c.585_586GG>AA	c.(583-588)gaggac>gaAAac	p.D196N	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	196										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCAGGCGTCCTCGTGCGCGC	0.668000														325			177		0	0	0.004672	0	0
CHRNA6	8973	broad.mit.edu	37	8	42623495	42623495	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:42623495C>T	uc003xpj.3	-	1	435	c.79_splice	c.e1+1	p.G27_splice	CHRNA6_uc011lcw.2_Splice_Site_p.G27_splice	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	27						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGAAACCTACCTTTAAAGAAA	0.398000														116			79		0	0	0.003610	0	0
TRPC4	7223	broad.mit.edu	37	13	38211150	38211150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:38211150G>A	uc010abx.3	-	10	3074	c.2839C>T	c.(2839-2841)Cct>Tct	p.P947S	TRPC4_uc010abv.3_Missense_Mutation_p.P522S|TRPC4_uc001uwt.3_Missense_Mutation_p.P858S|TRPC4_uc001uws.3_Missense_Mutation_p.P942S|TRPC4_uc010tey.2_Missense_Mutation_p.P801S|TRPC4_uc010abw.3_Missense_Mutation_p.P769S|TRPC4_uc010aby.3_Missense_Mutation_p.P793S	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	942	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGTATTATAGGAACCGTGTCC	0.458000														62			22		0	0	0.002780	0	0
AQR	9716	broad.mit.edu	37	15	35176813	35176813	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:35176813G>A	uc001ziv.3	-	25	3121	c.2940C>T	c.(2938-2940)ccC>ccT	p.P980P		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	980						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CTTTAAAAATGGGTTGAGGAG	0.368000														63			39		0	0	0.008740	0	0
SEZ6L	23544	broad.mit.edu	37	22	26709835	26709835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:26709835G>A	uc003acb.3	+	8	2178	c.1982G>A	c.(1981-1983)gGa>gAa	p.G661E	SEZ6L_uc003acd.3_Missense_Mutation_p.G661E|SEZ6L_uc011akd.2_Missense_Mutation_p.G661E|SEZ6L_uc003ace.3_Missense_Mutation_p.G661E|SEZ6L_uc011akc.2_Missense_Mutation_p.G661E|SEZ6L_uc003acc.3_Missense_Mutation_p.G661E|SEZ6L_uc003acf.1_Missense_Mutation_p.G434E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G434E	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	661	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ATCCACGTGGGAGAAGAGAAA	0.488000														126			72		0	0	0.003610	0	0
C17orf66	256957	broad.mit.edu	37	17	34183756	34183756	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:34183756C>T	uc002hke.1	-	11	1355	c.1206G>A	c.(1204-1206)acG>acA	p.T402T	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Silent_p.T362T|C17orf66_uc010wcm.1_Silent_p.T368T	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	402							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AGTTCATCATCGTAGGCTTCA	0.567000														22			13		0	0	0.001855	0	0
RFX6	222546	broad.mit.edu	37	6	117201821	117201821	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:117201821C>T	uc003pxm.3	+	2	558	c.495C>T	c.(493-495)acC>acT	p.T165T		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	165					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTGCGGCCACCTTTGGAAAGG	0.398000														60			107		0	0	0.003610	0	0
SLC5A8	160728	broad.mit.edu	37	12	101573822	101573822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:101573822C>T	uc001thz.4	-	9	1608	c.1218G>A	c.(1216-1218)atG>atA	p.M406I		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	406					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACAAAGCTCCCATAAGTGACG	0.453000														110			21		0	0	0.003954	0	0
CALB1	793	broad.mit.edu	37	8	91094270	91094270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:91094270C>T	uc003yel.1	-	1	322	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	CALB1_uc003yem.1_Non-coding_Transcript|CALB1_uc011lge.1_5'Flank	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	47						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AGCCTTCTTTCGCGCCTGCTG	0.443000														552			307		0	0	0.003610	0	0
SNRPB	6628	broad.mit.edu	37	20	2443366	2443366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2443366G>A	uc002wfz.1	-	5	764	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	SNRPB_uc002wga.1_Missense_Mutation_p.P201S|SNRPB_uc010zpv.2_Missense_Mutation_p.P122S|SNRPB_uc002wgb.3_Missense_Mutation_p.P201S	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	201	Repeat-rich region.			Missing (in Ref. 4).	histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCATTGGGGGACCCATAGGA	0.572000														266			157		0	0	0.003610	0	0
RFX5	5993	broad.mit.edu	37	1	151315115	151315115	+	Silent	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151315115C>A	uc001exv.1	-	10	1612	c.1398G>T	c.(1396-1398)cgG>cgT	p.R466R	RFX5_uc001exw.1_Silent_p.R466R|RFX5_uc010pcx.1_Silent_p.R426R	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	466						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGGCGCCCCCGTTTCCTTT	0.532000														420			507		7.39905e-207	1.09609e-206	0.003610	1	0
ATP2C2	9914	broad.mit.edu	37	16	84474529	84474529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:84474529G>A	uc010chj.3	+	13	1365	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	ATP2C2_uc002fhx.3_Missense_Mutation_p.E426K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E443K|ATP2C2_uc002fhz.3_Missense_Mutation_p.E275K	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	426					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGTCATTAAGGAATTTTCCAA	0.502000														188			84		0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36898464	36898464	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:36898464T>G	uc003cgj.3	-	11	2865	c.2617A>C	c.(2617-2619)Aag>Cag	p.K873Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	873					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						GCAATGATCTTCTCAGGGTTC	0.527000														15			12		0	0	0.001368	0	0
OR4K2	390431	broad.mit.edu	37	14	20345023	20345023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20345023G>A	uc001vwh.1	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTCTTTATGATCTCAACAA	0.403000														846			125		0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409727	105409727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:105409727G>A	uc010axc.1	-	6	12181	c.12061C>T	c.(12061-12063)Cct>Tct	p.P4021S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3921S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4021						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGCGGAAGGGGGCTGAACG	0.662000														646			291		0	0	0.003610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134934	233134934	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:233134934C>T	uc001hvl.2	-	30	5755	c.5520G>A	c.(5518-5520)ggG>ggA	p.G1840G	PCNXL2_uc001hvk.1_Silent_p.G492G|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1840						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)				GCCTGTGTGTCCCTAGGTAGG	0.502000														101			140		0	0	0.003610	0	0
KCND2	3751	broad.mit.edu	37	7	119915161	119915161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:119915161G>A	uc003vjj.1	+	0	1440	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	159					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.G158V(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CACCGCTGGGGAGAGCGCCTT	0.627000														352			190		0	0	0.003610	0	0
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:15323347T>C	uc002ktd.1	-	2		c.112A>G								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		CCAATAAAAGTGGTGTGTGGC	0.303000														26			5		0	0	0.001984	0	0
TLL1	7092	broad.mit.edu	37	4	166960592	166960592	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:166960592T>A	uc003irh.2	+	10	1908	c.1261_splice	c.e10+1	p.G421_splice	TLL1_uc011cjn.2_Splice_Site_p.G421_splice|TLL1_uc011cjo.2_Splice_Site_p.G245_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	421	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CACCTCTCCTTGGTAAGATAT	0.368000														3			9		0	0	0.004482	0	0
DNAH10	196385	broad.mit.edu	37	12	124341782	124341782	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:124341782C>T	uc001uft.4	+	35	6289	c.6264C>T	c.(6262-6264)gtC>gtT	p.V2088V		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2088	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACGCGGTCCTACCCATCC	0.507000														139			136		0	0	0.003610	0	0
FBXO39	162517	broad.mit.edu	37	17	6683895	6683895	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:6683895C>T	uc010vtg.2	+	1	828	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	236										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ACAACTGTATCTCCGACGAGC	0.507000														125			266		0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9318659	9318659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:9318659G>A	uc021wam.1	+	2	185	c.170G>A	c.(169-171)gGa>gAa	p.G57E	PLCB4_uc010gbw.1_Missense_Mutation_p.G57E|PLCB4_uc010gbx.3_Missense_Mutation_p.G57E|PLCB4_uc021wal.1_Missense_Mutation_p.G57E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	57					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTTCAGGAAGGACAGGTGCTA	0.413000														15			7		0	0	0.001984	0	0
FAM53A	152877	broad.mit.edu	37	4	1657423	1657423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:1657423C>T	uc021xkk.1	-	3	362	c.164G>A	c.(163-165)gGa>gAa	p.G55E	FAM53A_uc010ibw.3_Missense_Mutation_p.G55E|FAM53A_uc021xkl.1_Missense_Mutation_p.G55E	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	55						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GGGCGGTCCTCCACTGAAGAC	0.607000														134			22		0	0	0.002780	0	0
HMCN1	83872	broad.mit.edu	37	1	185894182	185894182	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:185894182C>A	uc001grq.1	+	8	1518	c.1289C>A	c.(1288-1290)gCt>gAt	p.A430D		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	430					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCCTAGATGCTCCCAAAGTT	0.388000														69			20		8.00594e-06	1.16321e-05	0.007413	1	0
VARS	7407	broad.mit.edu	37	6	31749511	31749511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31749511G>A	uc003nxe.3	-	19	2798	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	VARS_uc021yuy.1_5'Flank|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.	792				S -> F (in Ref. 1; CAA41990).	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)	GAGGCCAGAGGAGAACCAGGT	0.602000														580			366		0	0	0.003610	0	0
UNC13A	23025	broad.mit.edu	37	19	17785529	17785529	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17785529T>C	uc021uqk.1	-	2	131	c.89A>G	c.(88-90)aAt>aGt	p.N30S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	30	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTCTTGACATTCTGCACTTT	0.592000														403			225		0	0	0.003610	0	0
OLAH	55301	broad.mit.edu	37	10	15107690	15107690	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:15107690G>A	uc001int.2	+	6	923	c.669G>A	c.(667-669)aaG>aaA	p.K223K	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Silent_p.K170K	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	170					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.K223E(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTGAAGCCAAGGAATTTGTGA	0.393000														53			25		0	0	0.003954	0	0
ABP1	26	broad.mit.edu	37	7	150554300	150554300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:150554300G>A	uc003why.1	+	2	4960	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	ABP1_uc003whz.1_Missense_Mutation_p.E248K|ABP1_uc003wia.1_Missense_Mutation_p.E248K	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	248					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GAGCCCAGAGGAACTGGCTCG	0.637000														359			200		0	0	0.003610	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073328	17073328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:17073328G>A	uc002zlp.1	-	0	373	c.113C>T	c.(112-114)gCt>gTt	p.A38V		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	38					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGACTGCAGCCAAGCTGCT	0.647000														356			188		0	0	0.003610	0	0
GATA1	2623	broad.mit.edu	37	X	48649640	48649640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:48649640G>A	uc004dkq.4	+	1	215	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	42					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1fs(7)|p.D42_D74>(6)|p.D42fs*27(4)|p.P38fs*14(2)|p.L41fs*23(2)|p.E39fs*83(2)|p.F33fs*23(1)|p.F33fs*90(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGAGGGCTTGGATGCAGCAGC	0.632000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome									13			60		0	0	0.003610	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268125	103268125	+	Silent	SNP	C	T	T	rs138729092	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:103268125C>T	uc004elr.3	-	0	132	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	36					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CCTCAGAGGTCGTCTCAGAGG	0.627000														227			147		0	0	0.003610	0	0
RORB	6096	broad.mit.edu	37	9	77275628	77275628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:77275628G>A	uc004aji.3	+	4	815	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	RORB_uc004ajh.3_Missense_Mutation_p.E245K	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	256	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CCACACCTATGAAGAAATTAA	0.448000														21			44		0	0	0.009718	0	0
TBX2	6909	broad.mit.edu	37	17	59485551	59485551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:59485551G>A	uc010wox.2	+	6	2104	c.1823G>A	c.(1822-1824)cGg>cAg	p.R608Q	TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Missense_Mutation_p.R454Q	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	608					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						TCCCTCTCCCGGAGCCCCTTC	0.701000														174			120		0	0	0.003610	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36764133	36764133	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:36764133C>T	uc010tei.2	-	10	1137	c.822G>A	c.(820-822)gaG>gaA	p.E274E	CCDC169-SOHLH2_uc001uvj.3_Silent_p.E197E	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	274					regulation of transcription, DNA-dependent	nucleus											TTTTGTTTTTCTCGAACTCTG	0.333000														47			25		0	0	0.008361	0	0
KIF1A	547	broad.mit.edu	37	2	241728671	241728672	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:241728671_241728672GG>AA	uc010fzk.3	-	2	411_412	c.164_165CC>TT	c.(163-165)tcc>tTT	p.S55F	KIF1A_uc002vzy.3_Missense_Mutation_p.S55F|KIF1A_uc002vzz.2_Missense_Mutation_p.S55F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	55	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCGACCAGTAGGAGTAGTCAAA	0.619000														321			174		0	0	0.004672	0	0
NUMA1	4926	broad.mit.edu	37	11	71715117	71715117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:71715117C>T	uc001orl.1	-	25	6324	c.6152G>A	c.(6151-6153)aGc>aAc	p.S2051N	NUMA1_uc001orj.2_Missense_Mutation_p.S233N|NUMA1_uc009ysw.1_Missense_Mutation_p.S1618N|NUMA1_uc001ork.1_Missense_Mutation_p.S915N|NUMA1_uc001orm.1_Missense_Mutation_p.S2037N	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	2051					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTTGAGGATGCTGAAGGCCAT	0.627000			T	RARA	APL									397			326		0	0	0.003610	0	0
HPS3	84343	broad.mit.edu	37	3	148863268	148863268	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:148863268C>T	uc003ewu.1	+	4	1238	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	HPS3_uc011bnq.1_Silent_p.V201V|HPS3_uc021xfk.1_Silent_p.V259V	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	366						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGATGTCAGTCTACCAGTATC	0.438000									Hermansky-Pudlak syndrome					116			77		0	0	0.003610	0	0
EDAR	10913	broad.mit.edu	37	2	109545771	109545771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:109545771G>A	uc010fjn.3	-	4	786	c.239C>T	c.(238-240)tCc>tTc	p.S80F	EDAR_uc010yws.2_Missense_Mutation_p.S80F|EDAR_uc002teq.4_Missense_Mutation_p.S80F	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	80					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCCTCCTTTGGAAAACTTCTC	0.592000														257			143		0	0	0.003610	0	0
DFNA5	1687	broad.mit.edu	37	7	24742400	24742400	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:24742400G>A	uc010kus.1	-	8	1324	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	DFNA5_uc003sxa.1_Silent_p.I412I|DFNA5_uc010kut.1_Silent_p.I248I	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	412					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GTGTGGGAATGATCTGGAGTT	0.507000														253			163		0	0	0.003610	0	0
ARAP1	116985	broad.mit.edu	37	11	72408418	72408418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:72408418G>A	uc001osu.3	-	20	3092	c.2903C>T	c.(2902-2904)tCg>tTg	p.S968L	ARAP1_uc001osv.3_Missense_Mutation_p.S968L|ARAP1_uc001osr.3_Missense_Mutation_p.S728L|ARAP1_uc001oss.3_Missense_Mutation_p.S723L|ARAP1_uc009yth.3_Missense_Mutation_p.S662L|ARAP1_uc010rre.2_Missense_Mutation_p.S723L	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	968	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGGGATATCCGAGTCCCCAAG	0.682000														467			483		0	0	0.003610	0	0
ESRRB	2103	broad.mit.edu	37	14	76905876	76905876	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:76905876C>T	uc001xsr.3	+	3	551	c.180C>T	c.(178-180)ccC>ccT	p.P60P	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.P60P	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ACTCGCCACCCATGTTTGCAG	0.677000														248			162		0	0	0.003610	0	0
STAG1	10274	broad.mit.edu	37	3	136192424	136192425	+	Missense_Mutation	DNP	CT	AC	AC			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:136192424_136192425CT>AC	uc003era.1	-	10	1373_1374	c.1081_1082AG>GT	c.(1081-1083)aga>GTa	p.R361V	STAG1_uc003erb.1_Missense_Mutation_p.R361V|STAG1_uc003erc.1_Missense_Mutation_p.R135V|STAG1_uc010hua.1_Missense_Mutation_p.R224V	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	361	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GAATAATTCTCTATTGGTATAT	0.347000														113			57		0	0	0.004672	0	0
KCNA2	3737	broad.mit.edu	37	1	111146754	111146754	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:111146754G>A	uc021oro.1	-	0	651	c.651C>T	c.(649-651)tcC>tcT	p.S217S	KCNA2_uc009wfv.2_Silent_p.S217S|KCNA2_uc009wfw.3_Silent_p.S217S	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	217						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGTCTGTGAAGGAAGTGGACT	0.502000														400			232		0	0	0.003610	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238388	21238388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:21238388G>A	uc021ron.1	+	0	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	EDDM3B_uc001vyd.3_Missense_Mutation_p.E27K	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	27					spermatid development	extracellular region		p.K26E(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						ACAGAGCAAAGAAGTTTCTTG	0.468000														67			50		0	0	0.003610	0	0
PCSK1	5122	broad.mit.edu	37	5	95735809	95735809	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:95735809C>T	uc003kls.2	-	9	1517	c.1278G>A	c.(1276-1278)tgG>tgA	p.W426*	PCSK1_uc010jbi.2_Nonsense_Mutation_p.W116*|PCSK1_uc021ybq.1_Nonsense_Mutation_p.W379*	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	426					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTCTTTTTCCATCCAGGGT	0.522000														69			56		0	0	0.003610	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														170			29		0	0	0.003214	0	0
OR6F1	343169	broad.mit.edu	37	1	247875599	247875599	+	Silent	SNP	G	A	A	rs144440883	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:247875599G>A	uc001idj.1	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F153L(2)|p.F153F(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			CAATGGCCACGAAACCACACA	0.587000														213			51		0	0	0.003610	0	0
DSC2	1824	broad.mit.edu	37	18	28666641	28666641	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28666641C>T	uc002kwl.4	-	6	1294	c.840G>A	c.(838-840)ctG>ctA	p.L280L	DSC2_uc002kwk.4_Silent_p.L280L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	280	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGAGTACTTCAGGCGTGTGT	0.473000														75			45		0	0	0.002852	0	0
FBXW7	55294	broad.mit.edu	37	4	153332598	153332598	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:153332598G>A	uc003ims.3	-	1	520	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	FBXW7_uc011cii.2_Nonsense_Mutation_p.Q120*|FBXW7_uc003imt.3_Nonsense_Mutation_p.Q120*|FBXW7_uc003imu.3_Nonsense_Mutation_p.Q120*|FBXW7_uc021xsx.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xsy.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xsz.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xta.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xtb.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xtc.1_Nonsense_Mutation_p.Q120*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	120					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCACTCTCCTGGTCCATctcc	0.463000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									7			17		0	0	0.007413	0	0
CPNE4	131034	broad.mit.edu	37	3	131624227	131624227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:131624227G>A	uc011blq.2	-	1	225	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	CPNE4_uc003eok.3_Missense_Mutation_p.P21S|CPNE4_uc003eol.3_Missense_Mutation_p.P39S|CPNE4_uc003eom.3_Missense_Mutation_p.P21S	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	21	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTCAGGCAGGGGCTGTTAAAG	0.463000														14			11		0	0	0.000978	0	0
TMEM198	130612	broad.mit.edu	37	2	220412289	220412290	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220412289_220412290CT>TG	uc002vme.3	+	3	813_814	c.228_229CT>TG	c.(226-231)atcttc>atTGtc	p.F77V	TMEM198_uc002vmf.3_Missense_Mutation_p.F77V	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	77	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGGTGGTCATCTTCCTCCTCTG	0.634000											OREG0003985	type=REGULATORY REGION|Gene=AK123175|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		608			288		0	0	0.004672	0	0
RTDR1	27156	broad.mit.edu	37	22	23406136	23406136	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:23406136G>A	uc002zwt.3	-	4	755	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	199							binding	p.K198N(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGGCGCTGAGGAGCTTCTGCT	0.607000														267			133		0	0	0.003610	0	0
OSTalpha	200931	broad.mit.edu	37	3	195955749	195955749	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195955749G>A	uc003fwd.3	+	5	792	c.591G>A	c.(589-591)gtG>gtA	p.V197V	OSTalpha_uc010iac.1_Silent_p.V81V|OSTalpha_uc003fwe.3_Silent_p.V64V	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	197						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TGACCCTGGTGGGCCTGTTTC	0.532000														386			309		0	0	0.003610	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40842928	40842928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:40842928C>T	uc002iay.3	+	12	2243	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	676	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATCGAGTTCTCCTGCTACAAT	0.587000														588			325		0	0	0.003610	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964483	94964483	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:94964483G>A	uc001ydj.3	-	2	1048	c.252C>T	c.(250-252)tcC>tcT	p.S84S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	84					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGCACAGCATGGAGAAAGCTG	0.502000														239			129		0	0	0.003610	0	0
SPTB	6710	broad.mit.edu	37	14	65241964	65241964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:65241964G>A	uc001xht.3	-	21	4772	c.4721C>T	c.(4720-4722)gCc>gTc	p.A1574V	SPTB_uc001xhr.3_Missense_Mutation_p.A1574V|SPTB_uc001xhs.3_Missense_Mutation_p.A1574V|SPTB_uc001xhu.3_Missense_Mutation_p.A1574V|SPTB_uc010aqi.3_Missense_Mutation_p.A235V	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1574					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGCCTCCCGGCCGCTGCCTC	0.682000														264			130		0	0	0.003610	0	0
SLC22A17	51310	broad.mit.edu	37	14	23818588	23818588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:23818588G>A	uc001wjl.3	-	2	656	c.419C>T	c.(418-420)cCc>cTc	p.P140L	SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Missense_Mutation_p.P140L|SLC22A17_uc001wjn.3_Non-coding_Transcript|SLC22A17_uc010akl.1_Missense_Mutation_p.P140L	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	140					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TACTCCACAGGGGCCCACCAG	0.612000														165			97		0	0	0.003610	0	0
SSU72	29101	broad.mit.edu	37	1	1509893	1509893	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1509893G>T	uc001agd.3	-	0	370	c.45C>A	c.(43-45)aaC>aaA	p.N15K	SSU72_uc009vkg.1_Missense_Mutation_p.N15K|SSU72_uc001age.1_Missense_Mutation_p.N15K|HP08716_uc021oer.1_5'Flank	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Homo sapiens SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) (SSU72), mRNA.	15					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCCGGTTCTGGTTGCTCGAGC	0.721000														184			103		4.94481e-55	7.26824e-55	0.003610	1	0
AUTS2	26053	broad.mit.edu	37	7	70250942	70250942	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:70250942G>A	uc003tvw.4	+	17	2960	c.2225_splice	c.e17-1	p.E742_splice	AUTS2_uc003tvx.4_Splice_Site_p.E718_splice|AUTS2_uc011keg.2_Splice_Site_p.E194_splice	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	742										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGTTTGCAGAGCCTTTTAATC	0.552000														393			15		0	0	0.003163	0	0
COPA	1314	broad.mit.edu	37	1	160260464	160260464	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160260464G>A	uc001fvv.4	-	31	3854	c.3460C>T	c.(3460-3462)Ctg>Ttg	p.L1154L	COPA_uc009wti.3_Silent_p.L1145L	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1145					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGCAGACAGGATTTTTCGG	0.493000														492			151		0	0	0.003610	0	0
KIAA1210	57481	broad.mit.edu	37	X	118215320	118215320	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:118215320C>T	uc004era.4	-	13	5102	c.5102G>A	c.(5101-5103)tGg>tAg	p.W1701*		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1701										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CATGTGGCTCCATGCTTTGGC	0.413000														86			297		0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48612535	48612535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:48612535G>A	uc003ctz.2	-	74	6242	c.6241C>T	c.(6241-6243)Cct>Tct	p.P2081S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2081	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGTTCCAGGGAGTCCAGGA	0.647000														411			302		0	0	0.003610	0	0
HMBOX1	79618	broad.mit.edu	37	8	28827942	28827942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:28827942C>T	uc003xhd.4	+	2	748	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	HMBOX1_uc010lvd.3_Missense_Mutation_p.R136C|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Missense_Mutation_p.R136C|HMBOX1_uc011lay.2_Missense_Mutation_p.R136C|HMBOX1_uc003xhg.3_Missense_Mutation_p.R124C|HMBOX1_uc003xhf.3_Missense_Mutation_p.R124C	NM_001135726	NP_078843	Q6NT76	HMBX1_HUMAN	Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA.	136					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GTCACCAACTCGCTACCATGC	0.423000														59			44		0	0	0.009718	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518303	113518303	+	Silent	SNP	C	T	T	rs150965727		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:113518303C>T	uc010ljy.1	-	3	2875	c.2844G>A	c.(2842-2844)acG>acA	p.T948T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	948					glycogen metabolic process	integral to membrane		p.T948T(6)|p.T948M(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTGATTTCGTAGAAATAG	0.378000														33			22		0	0	0.010504	0	0
DOC2A	8448	broad.mit.edu	37	16	30018571	30018571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30018571C>T	uc002dvn.3	-	5	768	c.577G>A	c.(577-579)Gag>Aag	p.E193K	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Missense_Mutation_p.E193K|DOC2A_uc002dvp.3_Missense_Mutation_p.E193K|DOC2A_uc002dvq.3_Missense_Mutation_p.E193K	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	193	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ACGCGGATCTCCCCAATAAAC	0.622000														479			267		0	0	0.003610	0	0
GDAP1	54332	broad.mit.edu	37	8	75263640	75263640	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:75263640G>A	uc003yah.3	+	1	328	c.249G>A	c.(247-249)ggG>ggA	p.G83G	GDAP1_uc011lfj.2_Intron|GDAP1_uc003yai.3_Silent_p.G15G	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	83	GST N-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTATCCACGGGGAAAACATAA	0.428000														575			352		0	0	0.003610	0	0
TAF4B	6875	broad.mit.edu	37	18	23862009	23862009	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:23862009G>A	uc002kvt.4	+	5	1446	c.957G>A	c.(955-957)ctG>ctA	p.L319L	TAF4B_uc002kvu.4_Silent_p.L319L|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	319	TAFH.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	p.H318Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AGCCTCACCTGGTTCCTTTTC	0.343000														65			37		0	0	0.005524	0	0
LALBA	3906	broad.mit.edu	37	12	48962956	48962956	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:48962956C>T	uc001rrt.3	-	1	227	c.201G>A	c.(199-201)acG>acA	p.T67T		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	67					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						GTCCATATTCCGTGCTTTCAT	0.453000														53			18		0	0	0.006122	0	0
TNN	63923	broad.mit.edu	37	1	175087881	175087881	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:175087881G>A	uc001gkl.1	+	10	2684	c.2571G>A	c.(2569-2571)ccG>ccA	p.P857P		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	857	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P857T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTGAGGCCGGGCATGGAGT	0.587000														118			155		0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61851630	61851630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:61851630C>T	uc002eog.2	-	6	1985	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	CDH8_uc002eoh.3_Missense_Mutation_p.D113N	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	344	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCTCAAAGTCCAGAGGCTGT	0.438000														20			12		0	0	0.000978	0	0
ELTD1	64123	broad.mit.edu	37	1	79385897	79385897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:79385897G>A	uc001diq.4	-	9	1588	c.1432C>T	c.(1432-1434)Ctt>Ttt	p.L478F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	478					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATCCCAACAAGAAAAACAAGT	0.328000														17			5		0	0	0.000602	0	0
HIPK3	10114	broad.mit.edu	37	11	33308557	33308557	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:33308557C>T	uc001mul.1	+	1	867	c.597C>T	c.(595-597)gtC>gtT	p.V199V	HIPK3_uc001mum.1_Silent_p.V199V|HIPK3_uc009yjv.1_Silent_p.V199V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	199	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.E198K(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTTACGAAGTCCTTGATTTTC	0.393000														54			45		0	0	0.002522	0	0
SLC17A7	57030	broad.mit.edu	37	19	49940005	49940006	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49940005_49940006CC>TT	uc002pnp.3	-	1	287_288	c.115_116GG>AA	c.(115-117)ggg>AAg	p.G39K	SLC17A7_uc002pnq.1_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	39					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CACCGGGCGCCCATCCGCACTC	0.683000														356			211		0	0	0.004672	0	0
C10orf62	414157	broad.mit.edu	37	10	99349981	99349982	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:99349981_99349982CC>TT	uc001koa.3	+	0	532_533	c.327_328CC>TT	c.(325-330)atccac>atTTac	p.H110Y	PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.	110							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TCCAAGAGATCCACCAGGAGTC	0.619000														297			140		0	0	0.004672	0	0
AK300121	0	broad.mit.edu	37	12	52646107	52646107	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:52646107G>A	uc010snr.1	-	6	1029	c.681C>T	c.(679-681)tcC>tcT	p.S227S	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		AGGCCAGCTTGGAGTTCATCA	0.632000														280			271		0	0	0.003610	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850193	78850193	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:78850193C>T	uc001jxn.3	-	9	1476	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	KCNMA1_uc021ptu.1_Silent_p.R379R|KCNMA1_uc001jxj.2_Silent_p.R433R|KCNMA1_uc001jxk.1_Silent_p.R48R|KCNMA1_uc009xrt.1_Silent_p.R253R|KCNMA1_uc001jxl.1_Silent_p.R87R|KCNMA1_uc001jxo.3_Silent_p.R433R|KCNMA1_uc001jxm.3_Silent_p.R433R|KCNMA1_uc001jxq.3_Silent_p.R433R	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	433	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGACGTCATCCCGGTCCTTGT	0.522000														49			17		0	0	0.007413	0	0
SHANK2	22941	broad.mit.edu	37	11	70338455	70338455	+	Silent	SNP	C	T	T	rs143774841	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:70338455C>T	uc001oqc.3	-	17	2338	c.2226G>A	c.(2224-2226)gcG>gcA	p.A742A	SHANK2_uc010rqn.2_Silent_p.A218A|SHANK2_uc001opz.3_Silent_p.A213A|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.A210A|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Silent_p.A21A	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	429					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGTCTGAGCCCGCCGGGAAGC	0.677000														306			96		0	0	0.003610	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61959676	61959676	+	Silent	SNP	G	A	A	rs140077440		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:61959676G>A	uc001nsz.1	+	1	251	c.204G>A	c.(202-204)acG>acA	p.T68T		NM_006552	NP_006543	O95968	SG1D1_HUMAN	Homo sapiens secretoglobin, family 1D, member 1 (SCGB1D1), mRNA.	68						extracellular space	binding	p.T68K(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						GCGTGGATACGATGGCCTATG	0.438000														39			46		0	0	0.003610	0	0
PDZD2	23037	broad.mit.edu	37	5	32074523	32074523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:32074523C>T	uc003jhl.3	+	17	3699	c.3311C>T	c.(3310-3312)cCc>cTc	p.P1104L	PDZD2_uc003jhm.3_Missense_Mutation_p.P1104L|PDZD2_uc011cnx.1_Missense_Mutation_p.P930L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1104					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTGGGAGCCCCAGTTCCCCC	0.592000														203			42		0	0	0.007835	0	0
CABP4	57010	broad.mit.edu	37	11	67222957	67222957	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:67222957C>T	uc001olo.3	+	0	140	c.63C>T	c.(61-63)ccC>ccT	p.P21P	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	21					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GTCAGAAGCCCCCTGCGGGGG	0.632000														198			67		0	0	0.003610	0	0
RASAL1	8437	broad.mit.edu	37	12	113537799	113537799	+	Missense_Mutation	SNP	G	A	A	rs149283617		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113537799G>A	uc001tun.2	-	21	2657	c.2356C>T	c.(2356-2358)Cgt>Tgt	p.R786C	RASAL1_uc010syp.2_Missense_Mutation_p.R785C|RASAL1_uc001tul.3_Missense_Mutation_p.R756C|RASAL1_uc001tum.2_Missense_Mutation_p.R784C	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	784					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding	p.R784C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCGTGGGCACGATCCAGGTCT	0.667000														355			106		0	0	0.003610	0	0
LACTB2	51110	broad.mit.edu	37	8	71556407	71556407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:71556407G>A	uc003xyp.3	-	3	577	c.485C>T	c.(484-486)tCt>tTt	p.S162F	LOC286190_uc022avq.1_Intron	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Homo sapiens lactamase, beta 2 (LACTB2), mRNA.	162							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GCAATCTCCAGAAAAGATAGC	0.353000														213			119		0	0	0.003610	0	0
XDH	7498	broad.mit.edu	37	2	31604542	31604542	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:31604542G>A	uc002rnv.1	-	11	1168	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	363	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCATGAACACGGGGTTGAGGT	0.577000														31			19		0	0	0.001882	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:59010864G>A	uc002qtc.2	-	6	1772	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657000														355			187		0	0	0.003610	0	0
ACBD5	91452	broad.mit.edu	37	10	27507103	27507103	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:27507103A>T	uc001itr.1	-	6	722	c.2T>A	c.(1-3)aTg>aAg	p.M1K	ACBD5_uc010qdm.2_Missense_Mutation_p.M210K|ACBD5_uc010qdn.2_Missense_Mutation_p.M103K|ACBD5_uc010qdo.2_Intron|ACBD5_uc010qdp.2_Missense_Mutation_p.M212K|ACBD5_uc001ito.3_Missense_Mutation_p.M177K|ACBD5_uc001itp.3_Missense_Mutation_p.M103K|ACBD5_uc001itq.3_Missense_Mutation_p.M103K			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	221					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CTTCTTCATCATTTTCTTATC	0.353000														187			22		0	0	0.004656	0	0
HAO1	54363	broad.mit.edu	37	20	7886933	7886933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:7886933C>T	uc002wmw.1	-	3	613	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	HAO1_uc010gbu.3_Missense_Mutation_p.E197K	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	197	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAAAATTTTCCTCAGGAGAA	0.353000														23			16		0	0	0.004990	0	0
FAM47C	442444	broad.mit.edu	37	X	37027310	37027311	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:37027310_37027311GG>AC	uc004ddl.2	+	0	879_880	c.827_828GG>AC	c.(826-828)ggg>gAC	p.G276D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	276										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GAGCCTCCTGGGACTGGAGTGT	0.614000														63			196		0	0	0.004672	0	0
CAD	790	broad.mit.edu	37	2	27449415	27449415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:27449415C>T	uc002rji.3	+	13	2216	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	CAD_uc010eyw.3_Missense_Mutation_p.A622V	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	685	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GAAGTGAATGCCAGGCTCTCT	0.507000														327			183		0	0	0.003610	0	0
OR1F1	4992	broad.mit.edu	37	16	3254585	3254585	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:3254585C>T	uc010uwu.2	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGGACAATTTCCTCCTAGCTG	0.502000														440			233		0	0	0.003610	0	0
ZNF697	90874	broad.mit.edu	37	1	120165658	120165658	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:120165658G>A	uc001ehy.1	-	2	1422	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GGCACACGTAGGGCCGCTCAC	0.667000														72			32		0	0	0.004878	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535569	110535569	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:110535569T>G	uc003yne.3	+	75	12542	c.12438T>G	c.(12436-12438)ttT>ttG	p.F4146L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	4146					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATTCCGTTTAGCAGCTGTT	0.413000										HNSCC(38;0.096)				63			39		0	0	0.007835	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943144	12943144	+	Silent	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:12943144A>G	uc001aun.2	-	1	143	c.72T>C	c.(70-72)gcT>gcC	p.A24A		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	24										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACATGGCCAAAGCTTGGTCCC	0.577000														328			13		0	0	0.002522	0	0
UNC79	57578	broad.mit.edu	37	14	94044276	94044276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:94044276C>T	uc001ybv.1	+	14	1852	c.1769C>T	c.(1768-1770)cCt>cTt	p.P590L	UNC79_uc001ybs.1_Missense_Mutation_p.P590L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	767						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTCGGAGTCCTTTGCGTAGT	0.438000														120			71		0	0	0.003610	0	0
CALN1	83698	broad.mit.edu	37	7	71488686	71488686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:71488686G>A	uc003twb.4	-	4	848	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	CALN1_uc003twa.4_Missense_Mutation_p.R111C|CALN1_uc003twc.4_Missense_Mutation_p.R111C	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	111						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AAACCATCGCGACCTTCTGAA	0.418000														221			141		0	0	0.003610	0	0
KTN1	3895	broad.mit.edu	37	14	56108471	56108471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:56108471C>T	uc001xcb.3	+	18	2467	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F	KTN1_uc001xcc.3_Missense_Mutation_p.S722F|KTN1_uc001xcd.3_Missense_Mutation_p.S722F|KTN1_uc001xce.3_Missense_Mutation_p.S722F|KTN1_uc010trb.2_Missense_Mutation_p.S722F|KTN1_uc001xcf.1_Missense_Mutation_p.S722F|KTN1_uc010aoq.3_5'Flank	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	722					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACTCTTGTTTCTGAACAGGTA	0.294000			T	RET	papillary thryoid									91			49		0	0	0.003610	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133721	119133721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:119133721G>A	uc003ecj.4	+	11	3477	c.2945G>A	c.(2944-2946)aGg>aAg	p.R982K		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	982					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAAACAGAGAGGAATTCTGAC	0.532000														88			62		0	0	0.003610	0	0
MIB2	142678	broad.mit.edu	37	1	1563761	1563761	+	Silent	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1563761C>G	uc001agg.3	+	14	2340	c.2295C>G	c.(2293-2295)gcC>gcG	p.A765A	MIB2_uc001agh.3_Silent_p.A751A|MIB2_uc001agi.3_Silent_p.A761A|MIB2_uc001agj.3_Silent_p.A549A|MIB2_uc001agk.3_Silent_p.A700A|MIB2_uc001agl.2_Silent_p.A664A|MIB2_uc001agm.3_Silent_p.A585A|MIB2_uc010nyq.2_Silent_p.A664A|MIB2_uc009vkh.3_Silent_p.A514A|MIB2_uc001agn.3_Silent_p.A340A|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	708					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGAGGTGGCCCAGATCCTCA	0.706000														173			119		0	0	0.003610	0	0
NRN1	51299	broad.mit.edu	37	6	5999216	5999216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:5999216G>A	uc003mwu.3	-	2	1073	c.422C>T	c.(421-423)tCc>tTc	p.S141F	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	141						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CGCTCAGAAGGAAAGCCAGGT	0.647000														99			61		0	0	0.003610	0	0
FAM69C	125704	broad.mit.edu	37	18	72109245	72109245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:72109245G>A	uc002llk.3	-	2	992	c.983C>T	c.(982-984)tCa>tTa	p.S328L		NM_001044369	NP_001037834	Q0P6D2	FA69C_HUMAN	Homo sapiens family with sequence similarity 69, member C (FAM69C), mRNA.	328						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						ATCACATCTTGAAAAACAGTC	0.473000														433			243		0	0	0.003610	0	0
CHST6	4166	broad.mit.edu	37	16	75512732	75512732	+	Missense_Mutation	SNP	G	A	A	rs144301922		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:75512732G>A	uc021tlj.1	-	0	995	c.995C>T	c.(994-996)gCc>gTc	p.A332V	CHST6_uc002fef.3_Missense_Mutation_p.A332V|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.A332V	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	332					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGGCGCCAGGCCTGGGAGAC	0.642000														395			273		0	0	0.003610	0	0
LILRA4	23547	broad.mit.edu	37	19	54844919	54844919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:54844919G>A	uc002qfj.3	-	7	1481	c.1424C>T	c.(1423-1425)cCa>cTa	p.P475L	LILRA4_uc002qfi.3_Missense_Mutation_p.P409L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	475						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCTGCACCTTGGGGGGCTTCT	0.547000														278			176		0	0	0.003610	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717675	142717675	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:142717675T>G	uc022cfm.1	-	0	1250	c.1250A>C	c.(1249-1251)aAg>aCg	p.K417T	SLITRK4_uc022cfl.1_Missense_Mutation_p.K417T|SLITRK4_uc004fbx.3_Missense_Mutation_p.K417T|SLITRK4_uc004fby.3_Missense_Mutation_p.K417T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	417						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TACGTCTCCCTTAATCACTGT	0.383000														393			21		0	0	0.008871	0	0
TPST2	8459	broad.mit.edu	37	22	26936874	26936874	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:26936874C>T	uc003acw.3	-	2	1064	c.723G>A	c.(721-723)ctG>ctA	p.L241L	TPST2_uc003acx.3_Silent_p.L241L|TPST2_uc011akf.1_Silent_p.L241L	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	241					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GGTGCAGCACCAGCTGCTCGT	0.602000														380			151		0	0	0.003610	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338755	5338755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:5338755G>A	uc003sod.3	+	7	1180	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.R340K|SLC29A4_uc003soe.3_Missense_Mutation_p.R326K	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	340					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCACCTTCAGAGGTGAGTGC	0.721000														131			88		0	0	0.003610	0	0
HDAC9	9734	broad.mit.edu	37	7	18767289	18767289	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:18767289C>T	uc003sui.3	+	11	1859	c.1818C>T	c.(1816-1818)caC>caT	p.H606H	HDAC9_uc003sue.3_Silent_p.H603H|HDAC9_uc011jyd.2_Silent_p.H603H|HDAC9_uc003suh.3_Silent_p.H603H|HDAC9_uc003suj.3_Silent_p.H562H|HDAC9_uc003sua.1_Silent_p.H581H|HDAC9_uc010kue.1_Silent_p.H258H	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	603					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TAGAGAAACACCGTCTCGTCT	0.587000														26			20		0	0	0.008871	0	0
MFSD7	84179	broad.mit.edu	37	4	676052	676052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:676052G>A	uc003gay.3	-	9	1435	c.1378C>T	c.(1378-1380)Cgt>Tgt	p.R460C	MFSD7_uc003gaw.3_Missense_Mutation_p.R202C|MFSD7_uc003gax.3_Missense_Mutation_p.R459C|MFSD7_uc003gaz.3_Missense_Mutation_p.R341C	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	460					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						ACGGCGTTACGGGTGGAGGGG	0.711000														100			22		0	0	0.006999	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428546	128428546	+	Silent	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:128428546A>G	uc003ysf.3	+	0	690	c.435A>G	c.(433-435)gaA>gaG	p.E145E	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	145	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TGCAGAAAGAACTCGAGCAAT	0.557000														70			29		0	0	0.002836	0	0
GPR158	57512	broad.mit.edu	37	10	25887347	25887347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:25887347C>T	uc001isj.3	+	10	2852	c.2792C>T	c.(2791-2793)tCc>tTc	p.S931F	GPR158_uc001isk.3_Missense_Mutation_p.S306F	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	931						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CGCACTAAATCCCAGAAACCT	0.438000														79			42		0	0	0.007835	0	0
ITGA5	3678	broad.mit.edu	37	12	54795606	54795606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:54795606G>A	uc001sga.3	-	21	2328	c.2260C>T	c.(2260-2262)Ctc>Ttc	p.L754F		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	754					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GTGTCCCGGAGATGAGGGACT	0.557000														127			110		0	0	0.003610	0	0
SH3GL2	6456	broad.mit.edu	37	9	17793432	17793433	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:17793432_17793433CC>TT	uc003zna.3	+	7	1084_1085	c.796_797CC>TT	c.(796-798)cca>TTa	p.P266L	SH3GL2_uc011lmy.2_Missense_Mutation_p.P219L	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	266					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CCTGGAGTTTCCAACTGGAGAC	0.470000														17			24		0	0	0.004672	0	0
TNIP2	79155	broad.mit.edu	37	4	2749475	2749475	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:2749475C>T	uc003gfg.2	-	1	561	c.474G>A	c.(472-474)ctG>ctA	p.L158L	TNIP2_uc003gff.2_Silent_p.L51L	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	158						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGTGGCGGTCAGCGTCCTCC	0.637000														386			556		0	0	0.003610	0	0
XPO6	23214	broad.mit.edu	37	16	28146597	28146597	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:28146597G>A	uc002dpa.1	-	9	1884	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	XPO6_uc002dpb.1_Silent_p.I447I|XPO6_uc010vcp.1_Silent_p.I461I	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	461					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ATCTGAACTGGATTCGATTCA	0.478000														130			124		0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192577	132192577	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:132192577G>A	uc003vra.4	-	1	1105	c.876C>T	c.(874-876)tcC>tcT	p.S292S	PLXNA4_uc003vrc.2_Silent_p.S292S|PLXNA4_uc003vrb.3_Silent_p.S292S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	292	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTCTACATAGGAGTTGAAGG	0.602000														64			29		0	0	0.006320	0	0
MEGF10	84466	broad.mit.edu	37	5	126784839	126784839	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:126784839A>C	uc003kuh.4	+	22	3267	c.2905A>C	c.(2905-2907)Aag>Cag	p.K969Q	MEGF10_uc003kui.4_Missense_Mutation_p.K969Q	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	969	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GAACCCTGGGAAGAGAGGCCC	0.463000														96			21		0	0	0.003330	0	0
CLASP1	23332	broad.mit.edu	37	2	122104659	122104659	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:122104659G>A	uc002tnc.3	-	37	4872	c.4482C>T	c.(4480-4482)atC>atT	p.I1494I	CLASP1_uc010yyv.2_Silent_p.I541I|CLASP1_uc002tmz.3_Silent_p.I580I|CLASP1_uc002tna.3_Silent_p.I541I|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Silent_p.I1435I|CLASP1_uc010yza.2_Silent_p.I1427I|CLASP1_uc021vnl.1_Silent_p.I1433I|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Silent_p.I331I	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1495	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGTCTTCTCCGATTACGGAAT	0.502000														45			28		0	0	0.002096	0	0
TREML4	285852	broad.mit.edu	37	6	41196546	41196546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41196546C>T	uc003oqc.3	+	1	262	c.158C>T	c.(157-159)tCc>tTc	p.S53F	TREML4_uc003oqd.3_Non-coding_Transcript	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	53	Ig-like V-type.					extracellular region		p.S53Y(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGCCCAAATCCTGGTGTCAG	0.527000														158			104		0	0	0.003610	0	0
STK16	8576	broad.mit.edu	37	2	220111520	220111520	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220111520C>G	uc002vko.2	+	2	385	c.228C>G	c.(226-228)aaC>aaG	p.N76K	GLB1L_uc002vkm.3_5'Flank|GLB1L_uc002vkn.3_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.2_Missense_Mutation_p.N76K|STK16_uc010fwf.3_Missense_Mutation_p.N76K|STK16_uc002vkp.2_Missense_Mutation_p.N76K	NM_001008910	NP_001008910	O75716	STK16_HUMAN	Homo sapiens serine/threonine kinase 16 (STK16), transcript variant 1, mRNA.	76	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCACCCCAACATCCTTCGCC	0.572000														247			140		0	0	0.003610	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306762	27306762	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:27306762C>T	uc002rii.4	+	3	2822	c.2323C>T	c.(2323-2325)Ctg>Ttg	p.L775L	EMILIN1_uc002rik.4_Silent_p.L5L|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	775					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGCAGCCCTGCTGGAGAA	0.692000														165			136		0	0	0.003610	0	0
DCHS1	8642	broad.mit.edu	37	11	6646552	6646552	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6646552C>T	uc001mem.1	-	18	7424	c.7023G>A	c.(7021-7023)caG>caA	p.Q2341Q	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2341	Cadherin 22.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGGTCACACTGCTCAAAGT	0.602000														182			197		0	0	0.003610	0	0
SLC22A4	6583	broad.mit.edu	37	5	131671556	131671556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:131671556G>A	uc003kwq.3	+	7	1472	c.1307G>A	c.(1306-1308)gGg>gAg	p.G436E	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	436					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GGAAAATTTGGGATCACCTCT	0.468000														177			124		0	0	0.003610	0	0
GREB1	9687	broad.mit.edu	37	2	11758670	11758670	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:11758670C>T	uc002rbk.1	+	21	3969	c.3669C>T	c.(3667-3669)tcC>tcT	p.S1223S	GREB1_uc002rbp.1_Silent_p.S221S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1223	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCAGCTGTCCTCCTCCTCGG	0.711000														177			125		0	0	0.003610	0	0
ANAPC7	51434	broad.mit.edu	37	12	110812066	110812066	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:110812066G>A	uc001tqo.2	-	10	1684	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A		NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	561					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CCTCCTGAGTGGCATCCGTGG	0.587000														216			178		0	0	0.003610	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654486	49654486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:49654486G>A	uc001jgu.3	-	9	2390	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	ARHGAP22_uc001jgs.3_Missense_Mutation_p.S592L|ARHGAP22_uc001jgt.3_Missense_Mutation_p.S682L|ARHGAP22_uc010qgl.2_Missense_Mutation_p.S639L|ARHGAP22_uc010qgm.2_Missense_Mutation_p.S688L|ARHGAP22_uc001jgv.3_Missense_Mutation_p.S380L|ARHGAP22_uc001jgr.3_Missense_Mutation_p.S399L	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	682					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.P697T(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTAGGGTCGAAAAAAACTC	0.542000														461			175		0	0	0.003610	0	0
CCM2	83605	broad.mit.edu	37	7	45104163	45104163	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:45104163C>T	uc003tms.3	+	3	524	c.453C>T	c.(451-453)atC>atT	p.I151I	CCM2_uc003tmn.3_Non-coding_Transcript|CCM2_uc003tmo.3_Silent_p.I130I|CCM2_uc003tmp.3_Silent_p.I72I|CCM2_uc003tmr.3_Silent_p.I130I|CCM2_uc011kcb.2_Silent_p.I93I|CCM2_uc011kcc.2_Silent_p.I123I	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	130	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGGAGGATATCATCCTCAGGG	0.607000														102			66		0	0	0.003610	0	0
DYRK4	8798	broad.mit.edu	37	12	4702284	4702284	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:4702284A>C	uc009zeh.1	+	5	622	c.580A>C	c.(580-582)Aaa>Caa	p.K194Q	DYRK4_uc001qmx.3_Missense_Mutation_p.K79Q|DYRK4_uc001qmy.2_Missense_Mutation_p.K79Q|DYRK4_uc021qtq.1_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	79	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGCTCCTGAGAAATTTAGCAA	0.532000														56			50		0	0	0.003610	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565294	48565294	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:48565294G>A	uc010xzd.2	-	13	1585	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L	PLA2G4C_uc002phw.3_Silent_p.L341L|PLA2G4C_uc010elr.3_Silent_p.L406L|PLA2G4C_uc002phx.3_Silent_p.L406L	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	406	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.D416N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGGAGAGGATGAGGTGAACCT	0.607000														228			153		0	0	0.003610	0	0
CYP1A1	1543	broad.mit.edu	37	15	75012934	75012934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:75012934C>T	uc002ayp.4	-	6	1557	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	CYP1A1_uc010bjy.3_Missense_Mutation_p.E450K|CYP1A1_uc010bju.3_Missense_Mutation_p.E215K|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.E215K|CYP1A1_uc002ayq.4_Missense_Mutation_p.E479K	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	479					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ACGCTGAATTCCACCCGTTGC	0.557000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					398			215		0	0	0.003610	0	0
PPP1R2	5504	broad.mit.edu	37	3	195245818	195245818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195245818G>A	uc003fup.3	-	4	944	c.568C>T	c.(568-570)Caa>Taa	p.Q190*		NM_006241	NP_006232	P41236	IPP2_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 (PPP1R2), mRNA.	190					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ATCTAACCTTGATTTGATTCT	0.333000														168			102		0	0	0.003610	0	0
ZBBX	79740	broad.mit.edu	37	3	167051674	167051674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:167051674C>T	uc011bpc.2	-	9	965	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ZBBX_uc003feq.3_Missense_Mutation_p.E181K|ZBBX_uc003fep.3_Missense_Mutation_p.E210K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	210						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTACTGGTTTCCTTTGTAGAA	0.348000														21			13		0	0	0.001368	0	0
H1FNT	341567	broad.mit.edu	37	12	48723366	48723366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:48723366G>A	uc001rrm.3	+	0	604	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	98					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGCCGCCACGAAGCGCCCAG	0.662000														151			114		0	0	0.003610	0	0
PTPRS	5802	broad.mit.edu	37	19	5231452	5231452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:5231452G>A	uc002mbv.3	-	13	2258	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.P662L|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	675	Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGTGGTCGGGGGGATGCCGTT	0.672000														268			142		0	0	0.003610	0	0
EPN1	29924	broad.mit.edu	37	19	56206590	56206591	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56206590_56206591CC>AT	uc002qlw.3	+	10	1941_1942	c.1599_1600CC>AT	c.(1597-1602)ctccgt>ctATgt	p.R534C	EPN1_uc002qlv.3_Missense_Mutation_p.R508C|EPN1_uc010etd.3_Missense_Mutation_p.R533C|EPN1_uc002qlx.3_Missense_Mutation_p.R620C	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	534	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TGAACCAGCTCCGTCTCAGTCC	0.703000														171			135		0	0	0.004672	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577016	158577016	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158577016A>T	uc010pio.2	+	0	788	c.788A>T	c.(787-789)aAa>aTa	p.K263I		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGAGGCCCAAAGCCAGCTAC	0.488000														61			67		0	0	0.003610	0	0
KL	9365	broad.mit.edu	37	13	33635166	33635166	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:33635166C>T	uc001uus.3	+	3	1958	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	650	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGCCGCGCCTCCTGGCCAGGC	0.622000														203			87		0	0	0.003610	0	0
HCN1	348980	broad.mit.edu	37	5	45645578	45645578	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:45645578G>A	uc003jok.3	-	1	583	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	186						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTCCAATAGGAAAACTGTAT	0.368000														43			43		0	0	0.002522	0	0
ZNF280C	55609	broad.mit.edu	37	X	129377802	129377802	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:129377802T>C	uc004evm.3	-	3	419	c.216A>G	c.(214-216)aaA>aaG	p.K72K	ZNF280C_uc010nrf.2_Silent_p.K72K	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	72	Ser-rich.				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						TCTTTATTCCTTTTGAAGATG	0.244000														9			2		0	0	0.004672	0	0
RBM5	10181	broad.mit.edu	37	3	50129563	50129563	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:50129563G>T	uc003cyg.3	+	2	280	c.105G>T	c.(103-105)agG>agT	p.R35S	RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript|RBM5_uc003cyf.3_Missense_Mutation_p.R35S|RBM5_uc011bdj.2_Missense_Mutation_p.G13V|RBM5_uc011bdk.2_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	35					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGGCGGAGGGACTCAGATT	0.498000														272			184		1.38479e-102	2.0454e-102	0.003610	1	0
DTX1	1840	broad.mit.edu	37	12	113496244	113496244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113496244C>T	uc001tuk.1	+	0	583	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	83	WWE 1.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCACCAGTTTCGCCAGGACAC	0.612000														350			381		0	0	0.003610	0	0
CEP128	145508	broad.mit.edu	37	14	81227856	81227856	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:81227856G>A	uc001xux.2	-	15	2649	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	826						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CACCAAGAATGGATTCCTGTT	0.393000														217			125		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140802553	140802553	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:140802553T>A	uc003lkq.2	+	0	2017	c.1759T>A	c.(1759-1761)Tac>Aac	p.Y587N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.Y587N|PCDHGC5_uc003lkp.2_Missense_Mutation_p.Y587N	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	587	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACCTGGCTACCTGGTGAC	0.647000														242			448		0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33895497	33895497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:33895497G>A	uc001zhi.3	+	17	2166	c.2096G>A	c.(2095-2097)gGa>gAa	p.G699E	RYR3_uc010bar.3_Missense_Mutation_p.G699E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	699	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGTGGAGAAGGATGGGGAGGC	0.547000														126			72		0	0	0.003610	0	0
COL4A2	1284	broad.mit.edu	37	13	111154033	111154033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:111154033G>A	uc001vqx.3	+	40	4068	c.3779G>A	c.(3778-3780)gGg>gAg	p.G1260E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1260	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCCCACCTGGGAGCCCAGGA	0.517000														330			174		0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228456411	228456411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:228456411G>A	uc009xez.1	+	16	5086	c.5042G>A	c.(5041-5043)cGg>cAg	p.R1681Q	OBSCN_uc001hsn.3_Missense_Mutation_p.R1681Q|OBSCN_uc001hso.3_Missense_Mutation_p.R127Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1681	Ig-like 17.				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)				GGCTGCACACGGAGGCTGGTG	0.672000														312			371		0	0	0.003610	0	0
CCKBR	887	broad.mit.edu	37	11	6291139	6291139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6291139C>T	uc001mcp.3	+	1	647	c.392C>T	c.(391-393)tCc>tTc	p.S131F	CCKBR_uc001mcq.3_Missense_Mutation_p.S59F|CCKBR_uc001mcr.3_Missense_Mutation_p.S131F|CCKBR_uc001mcs.3_Missense_Mutation_p.S131F	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	131					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAGGCGGTTTCCTACCTCATG	0.602000														214			202		0	0	0.003610	0	0
EIF2D	1939	broad.mit.edu	37	1	206767007	206767007	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:206767007G>A	uc001heh.2	-	13	1854	c.1645C>T	c.(1645-1647)Cag>Tag	p.Q549*	EIF2D_uc009xbw.2_Nonsense_Mutation_p.Q425*	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	549	SUI1.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGTTTCCCTGGATCTGCACC	0.592000														206			64		0	0	0.003610	0	0
NWD1	284434	broad.mit.edu	37	19	16905281	16905281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:16905281C>T	uc002neu.4	+	14	3643	c.3221C>T	c.(3220-3222)tCc>tTc	p.S1074F	NWD1_uc002net.4_Missense_Mutation_p.S939F|NWD1_uc002nev.4_Missense_Mutation_p.S868F|NWD1_uc021uqg.1_Missense_Mutation_p.S939F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1074							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGTTTCCTCCAAAGGGGAC	0.463000														47			26		0	0	0.007291	0	0
NOD1	10392	broad.mit.edu	37	7	30492470	30492470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:30492470G>A	uc003tav.3	-	5	1086	c.563C>T	c.(562-564)aCc>aTc	p.T188I	NOD1_uc010kvs.2_Missense_Mutation_p.T188I	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	188					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GAGGATGCCGGTGGTGTGGTC	0.607000														415			301		0	0	0.003610	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036506	21036506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:21036506G>A	uc010sil.2	+	10	1717	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	SLCO1B3_uc001rek.3_Missense_Mutation_p.G551E|SLCO1B3_uc001rel.3_Missense_Mutation_p.G551E|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	551					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.T550R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCTGCAACAGGAGGTACCACA	0.343000														65			34		0	0	0.003755	0	0
DMBT1	1755	broad.mit.edu	37	10	124377595	124377595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124377595G>A	uc001lgk.1	+	37	4673	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K	DMBT1_uc001lgl.1_Missense_Mutation_p.E1513K|DMBT1_uc001lgm.1_Missense_Mutation_p.E895K|DMBT1_uc021qaf.1_Missense_Mutation_p.E1523K|DMBT1_uc021qag.1_Missense_Mutation_p.E1513K|DMBT1_uc021qah.1_Missense_Mutation_p.E895K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1523K|DMBT1_uc010qtx.1_Missense_Mutation_p.E374K|DMBT1_uc009yab.1_Missense_Mutation_p.E226K|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1523	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGCCGAGTGGAGGTCCTATA	0.582000														536			326		0	0	0.003610	0	0
STAT1	6772	broad.mit.edu	37	2	191844533	191844533	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:191844533G>A	uc010fse.2	-	18	2124	c.1692C>T	c.(1690-1692)ctC>ctT	p.L564L	STAT1_uc021vue.1_Silent_p.L376L|STAT1_uc002usj.2_Silent_p.L564L|STAT1_uc002usk.2_Silent_p.L564L|STAT1_uc002usl.2_Silent_p.L566L	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	564					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GTTTTTTAATGAGTTCTAGGA	0.363000														46			39		0	0	0.003214	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:13769624C>T	uc003jfd.2	-	56	9748	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome					27			37		0	0	0.004289	0	0
MMP10	4319	broad.mit.edu	37	11	102650355	102650355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:102650355C>T	uc001phg.2	-	1	264	c.227G>A	c.(226-228)gGg>gAg	p.G76E		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	76					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GTCTAGCTTCCCTGTCACCTC	0.483000														67			19		0	0	0.008871	0	0
FOLH1	2346	broad.mit.edu	37	11	49207377	49207377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:49207377C>T	uc001ngy.3	-	5	931	c.670G>A	c.(670-672)Gga>Aga	p.G224R	FOLH1_uc009yly.3_Missense_Mutation_p.G209R|FOLH1_uc009ylz.3_Missense_Mutation_p.G209R|FOLH1_uc001ngz.3_Missense_Mutation_p.G224R|FOLH1_uc009yma.3_Intron	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	224					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AGAATGACTCCTTTGGCCCCT	0.453000														103			28		0	0	0.009535	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519434	137519434	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:137519434A>C	uc003qho.2	-	6	1307	c.1204T>G	c.(1204-1206)Tgt>Ggt	p.C402G	IFNGR1_uc011edm.1_Missense_Mutation_p.C374G	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	402					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTCTCAGAACAATTTCTGGAG	0.418000														20			36		0	0	0.005524	0	0
LPPR4	9890	broad.mit.edu	37	1	99772125	99772125	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:99772125C>T	uc001dse.3	+	6	2009	c.1851C>T	c.(1849-1851)ccC>ccT	p.P617P	LPPR4_uc010oue.2_Silent_p.P559P	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	617							phosphatidate phosphatase activity	p.E616D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCATGAGCCCAGTGGGATAG	0.562000														16			9		0	0	0.006214	0	0
PKP3	11187	broad.mit.edu	37	11	397181	397181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:397181G>A	uc021qbk.1	+	3	754	c.725G>A	c.(724-726)gGg>gAg	p.G242E	PKP3_uc001lpc.3_Missense_Mutation_p.G227E	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	227					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCGGGCAGGGGGGCTGGAC	0.711000														139			145		0	0	0.003610	0	0
RFX7	64864	broad.mit.edu	37	15	56386375	56386375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:56386375G>A	uc010bfn.3	-	8	3551	c.3551C>T	c.(3550-3552)cCa>cTa	p.P1184L	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.P998L	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	1087					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATTAGATACTGGATAGAGGGT	0.463000														148			88		0	0	0.003610	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:66499794C>T	uc004aee.1	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCA	0.587000														386			32		0	0	0.003610	0	0
KIF2B	84643	broad.mit.edu	37	17	51902363	51902363	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:51902363A>G	uc002iua.2	+	0	2125	c.1969A>G	c.(1969-1971)Aag>Gag	p.K657E	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	657					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.K657N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGAGATCCAAAAGAAACTGAA	0.458000														178			99		0	0	0.003610	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914405	147914405	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:147914405G>A	uc003weu.2	+	18	3552	c.3036G>A	c.(3034-3036)ggG>ggA	p.G1012G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1012					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTGAAGAAGGGATGTGGCTAC	0.488000										HNSCC(39;0.1)				90			44		0	0	0.009718	0	0
CFP	5199	broad.mit.edu	37	X	47487623	47487623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:47487623G>A	uc004dih.3	-	3	523	c.281C>T	c.(280-282)tCt>tTt	p.S94F	CFP_uc004dig.4_Missense_Mutation_p.S94F|CFP_uc004dii.1_Missense_Mutation_p.S30F|CFP_uc010nhu.2_Missense_Mutation_p.S94F	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	94	TSP type-1 1.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGAGCCCTCAGAGCACGTCAC	0.632000														23			129		0	0	0.003610	0	0
FBN1	2200	broad.mit.edu	37	15	48789529	48789529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:48789529G>A	uc001zwx.2	-	18	2622	c.2227C>T	c.(2227-2229)Cgt>Tgt	p.R743C		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	743	EGF-like 11; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGGTCCCACGAAGGTTTTCA	0.353000														59			58		0	0	0.003610	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048542	90048542	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:90048542G>A	uc001dni.3	+	6	840	c.333G>A	c.(331-333)gaG>gaA	p.E111E	LRRC8B_uc001dnh.3_Silent_p.E111E|LRRC8B_uc001dnj.3_Silent_p.E111E	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	111						integral to membrane		p.E111*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCTGTTACGAGAAACAGCTCC	0.507000														73			32		0	0	0.009535	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940089	68940089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:68940089C>T	uc009xpn.1	-	6	1156	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CTNNA3_uc001jmw.2_Missense_Mutation_p.E345K|CTNNA3_uc001jmx.4_Missense_Mutation_p.E345K|CTNNA3_uc009xpo.1_Missense_Mutation_p.E205K|CTNNA3_uc001jna.2_Missense_Mutation_p.E357K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	345					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTCATGTACTCTGAAAGCAGA	0.483000														13			8		0	0	0.006214	0	0
ZC3H4	23211	broad.mit.edu	37	19	47571034	47571034	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:47571034G>A	uc002pga.4	-	14	2529	c.2491C>T	c.(2491-2493)Cga>Tga	p.R831*	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	831							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCGGGGGTCGGCTGGACGTC	0.632000														112			65		0	0	0.003610	0	0
VEGFA	7422	broad.mit.edu	37	6	43745284	43745284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:43745284C>T	uc003owh.3	+	2	1235	c.737C>T	c.(736-738)cCt>cTt	p.P246L	VEGFA_uc003owb.3_Missense_Mutation_p.P66L|VEGFA_uc003owd.3_Missense_Mutation_p.P246L|VEGFA_uc010jyx.3_Missense_Mutation_p.P246L|VEGFA_uc003owf.3_Missense_Mutation_p.P246L|VEGFA_uc003owg.3_Missense_Mutation_p.P246L|VEGFA_uc003owe.3_Missense_Mutation_p.P246L|VEGFA_uc021yzu.1_Missense_Mutation_p.P245L|VEGFA_uc003owj.3_Missense_Mutation_p.P246L|VEGFA_uc003owi.3_Missense_Mutation_p.P246L|VEGFA_uc003owk.3_5'Flank|VEGFA_uc021yzv.1_5'Flank	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	66					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CAGGAGTACCCTGATGAGATC	0.562000														283			196		0	0	0.003610	0	0
C2orf78	388960	broad.mit.edu	37	2	74042650	74042650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:74042650G>A	uc002sjr.1	+	2	1421	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	434										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATTTGAAAATGGGATTGAGTC	0.463000														248			171		0	0	0.003610	0	0
FOXA3	3171	broad.mit.edu	37	19	46375989	46375989	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:46375989C>T	uc002pdr.3	+	1	923	c.726C>T	c.(724-726)acC>acT	p.T242T		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	242					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CGACCACCACCCCCGCGGCCA	0.692000														85			73		0	0	0.003610	0	0
GCFC2	6936	broad.mit.edu	37	2	75929358	75929358	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:75929358G>A	uc002sno.3	-	2	716	c.586C>T	c.(586-588)Caa>Taa	p.Q196*	GCFC2_uc010ffs.3_5'Flank|GCFC2_uc002snn.3_Nonsense_Mutation_p.Q27*|GCFC2_uc010fft.3_5'UTR|GCFC2_uc002snp.4_Nonsense_Mutation_p.Q196*	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	196					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										CTAAGTGTTTGAGGTCTTAGA	0.373000														303			207		0	0	0.003610	0	0
C10orf129	142827	broad.mit.edu	37	10	96971703	96971703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:96971703C>T	uc001kke.3	+	5	949	c.824C>T	c.(823-825)tCc>tTc	p.S275F	C10orf129_uc009xuu.1_Missense_Mutation_p.S185F	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	275					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGATCTTTATCCCTGAGCGCT	0.468000														33			17		0	0	0.007413	0	0
KRT71	112802	broad.mit.edu	37	12	52943862	52943862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:52943862C>T	uc001sao.3	-	1	677	c.607G>A	c.(607-609)Gac>Aac	p.D203N		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	203	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		AGCTCCGAGTCCAGCCTCACC	0.587000														330			253		0	0	0.003610	0	0
PM20D1	148811	broad.mit.edu	37	1	205814567	205814567	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:205814567G>A	uc001hdj.3	-	2	451	c.375C>T	c.(373-375)caC>caT	p.H125H	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	125						extracellular region	metal ion binding|peptidase activity	p.H125N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCACATCAAAGTGAGCCATCA	0.572000														464			187		0	0	0.003610	0	0
DSG4	147409	broad.mit.edu	37	18	28989502	28989502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28989502G>A	uc002kwr.2	+	12	2156	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	DSG4_uc002kwq.2_Missense_Mutation_p.G674E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	674					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTGAGGGCGGAGAAGGAGTG	0.542000														507			282		0	0	0.003610	0	0
LPIN1	23175	broad.mit.edu	37	2	11913802	11913802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:11913802C>T	uc010yjm.2	+	5	853	c.800C>T	c.(799-801)tCc>tTc	p.S267F	LPIN1_uc010yjn.2_Missense_Mutation_p.S218F|LPIN1_uc002rbt.3_Missense_Mutation_p.S218F|LPIN1_uc002rbs.3_Missense_Mutation_p.S218F	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	218					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAAAACCTCTCCCTGGCTGTG	0.443000														557			344		0	0	0.003610	0	0
GTPBP10	85865	broad.mit.edu	37	7	89982181	89982182	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:89982181_89982182GG>AA	uc003ukm.2	+	1	162_163	c.85_86GG>AA	c.(85-87)gga>AAa	p.G29K	GTPBP10_uc003ukl.1_Non-coding_Transcript|GTPBP10_uc003uki.1_Missense_Mutation_p.G46K|GTPBP10_uc003ukj.1_Missense_Mutation_p.G20K|GTPBP10_uc003ukk.1_Non-coding_Transcript|GTPBP10_uc003ukn.2_Missense_Mutation_p.G29K|GTPBP10_uc003uko.2_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	29					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGATCCGGTGGAATGGGTTAT	0.391000											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		148			76		0	0	0.004672	0	0
LRRC43	254050	broad.mit.edu	37	12	122669159	122669159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:122669159G>A	uc009zxm.3	+	1	269	c.244G>A	c.(244-246)Gag>Aag	p.E82K	LRRC43_uc001ubw.4_5'UTR|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	82										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGAGACGGTGGAGGCCCTGCT	0.592000														208			69		0	0	0.003610	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12251980	12251980	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:12251980G>A	uc001att.3	+	4	546	c.457_splice	c.e4+1	p.G153_splice	TNFRSF1B_uc001atu.3_Splice_Site|TNFRSF1B_uc009vnk.3_Splice_Site	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	153					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GGCCAGACCAGGTACGGGGTG	0.667000														261			107		0	0	0.003610	0	0
LYST	1130	broad.mit.edu	37	1	235972583	235972583	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:235972583T>C	uc001hxj.2	-	4	1710	c.1535A>G	c.(1534-1536)cAt>cGt	p.H512R	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.H512R	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	512					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCTCGGTGATGATGCATAAA	0.383000														59			33		0	0	0.002445	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64136992	64136992	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64136992C>T	uc001oae.3	+	12	1586	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	RPS6KA4_uc001oad.3_Silent_p.F495F|RPS6KA4_uc010rnl.2_Silent_p.F438F|RPS6KA4_uc001oaf.3_Silent_p.F494F|RPS6KA4_uc009ypp.3_Intron	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	501	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						AGCGGCACTTCAGCGAGTCGG	0.692000														88			78		0	0	0.003610	0	0
FCER2	2208	broad.mit.edu	37	19	7763263	7763263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:7763263C>T	uc002mhn.3	-	3	386	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	FCER2_uc021unx.1_Missense_Mutation_p.E56K|FCER2_uc002mhm.2_Missense_Mutation_p.E57K|FCER2_uc010xjt.2_5'UTR|FCER2_uc010dvo.2_Missense_Mutation_p.E57K	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	57					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GCCCTCTCTTCCAGCTGTTTT	0.632000														241			141		0	0	0.003610	0	0
IGSF1	3547	broad.mit.edu	37	X	130408837	130408837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:130408837G>A	uc004ewe.4	-	17	3785	c.3502C>T	c.(3502-3504)Ccc>Tcc	p.P1168S	IGSF1_uc004ewd.3_Missense_Mutation_p.P1163S|IGSF1_uc022cdv.1_Missense_Mutation_p.P1154S|IGSF1_uc004ewf.2_Missense_Mutation_p.P1143S	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1163	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GACAGAGAGGGTTTAGGGGGC	0.473000														67			198		0	0	0.003610	0	0
MERTK	10461	broad.mit.edu	37	2	112705031	112705031	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:112705031A>G	uc002thk.1	+	3	766	c.644A>G	c.(643-645)aAc>aGc	p.N215S	MERTK_uc002thl.1_Missense_Mutation_p.N39S	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	215	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACAGCCTTCAACCTCACCTGT	0.498000														41			33		0	0	0.002445	0	0
FAM24A	118670	broad.mit.edu	37	10	124671195	124671195	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124671195C>T	uc001lgv.3	+	1	166	c.45C>T	c.(43-45)atC>atT	p.I15I		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA.	15						extracellular region		p.I15M(2)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TGATCGGCATCGGAAGCAGCT	0.498000														134			57		0	0	0.003610	0	0
CCDC40	55036	broad.mit.edu	37	17	78058622	78058622	+	Silent	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:78058622A>C	uc010dht.3	+	12	2101	c.2070A>C	c.(2068-2070)gcA>gcC	p.A690A	CCDC40_uc021uem.1_Silent_p.A690A|CCDC40_uc002jxm.4_Silent_p.A473A|CCDC40_uc002jxn.4_Silent_p.A86A	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	690					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.D689D(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCTGGACGCACACCAGAAGA	0.532000														208			114		0	0	0.003610	0	0
TFEC	22797	broad.mit.edu	37	7	115580925	115580925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:115580925C>T	uc003vhj.2	-	7	977	c.724G>A	c.(724-726)Gat>Aat	p.D242N	TFEC_uc003vhm.2_Missense_Mutation_p.D175N|TFEC_uc003vhk.2_Missense_Mutation_p.D213N|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GCACCTAAATCAACCGTGCCA	0.453000														104			68		0	0	0.003610	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666168	133666168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:133666168C>T	uc003eqa.4	-	8	1501	c.1227G>A	c.(1225-1227)atG>atA	p.M409I	SLCO2A1_uc011blv.2_Missense_Mutation_p.M228I	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	409					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CACAAAGGATCATGGAGATGG	0.507000														145			79		0	0	0.003610	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624743	5624743	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5624743C>G	uc001mbf.3	+	1	548	c.285C>G	c.(283-285)aaC>aaG	p.N95K	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.N67K|TRIM6-TRIM34_uc010qzj.2_Intron|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.N67K|TRIM6-TRIM34_uc001mbe.3_Intron|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.N95K|TRIM6-TRIM34_uc010qzk.2_Intron|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	95						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGCCAGGGAACCTGCGGCCTA	0.562000														154			53		0	0	0.003610	0	0
DDX60	55601	broad.mit.edu	37	4	169189052	169189052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:169189052G>A	uc003irp.3	-	20	3161	c.2869C>T	c.(2869-2871)Cgt>Tgt	p.R957C		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	957							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCGGCCTGACGACCCACATGT	0.328000														15			54		0	0	0.003610	0	0
VPS13A	23230	broad.mit.edu	37	9	79932605	79932605	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:79932605G>A	uc004akr.3	+	39	5207	c.4947G>A	c.(4945-4947)ctG>ctA	p.L1649L	VPS13A_uc004akp.4_Silent_p.L1649L|VPS13A_uc004akq.4_Silent_p.L1649L|VPS13A_uc004aks.3_Silent_p.L1610L|VPS13A_uc004akt.3_5'Flank|VPS13A_uc010mpo.1_Silent_p.L245L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1649					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAAAATCCCTGACACTAAAGG	0.303000														1			6		0	0	0.001984	0	0
CDH23	64072	broad.mit.edu	37	10	73544845	73544845	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:73544845C>T	uc001jrx.4	+	40	6081	c.5691C>T	c.(5689-5691)ttC>ttT	p.F1897F		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1900	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGCCTTCTTCATCAATGCCA	0.597000														276			125		0	0	0.003610	0	0
MARCH2	51257	broad.mit.edu	37	19	8486870	8486870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:8486870C>T	uc002mjv.3	+	2	587	c.146C>T	c.(145-147)tCc>tTc	p.S49F	MARCH2_uc002mjw.3_Missense_Mutation_p.S49F|MARCH2_uc002mjx.3_Missense_Mutation_p.S49F	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	49					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGGCTCCTCTCCACCGTCATC	0.622000														369			203		0	0	0.003610	0	0
ZNF527	84503	broad.mit.edu	37	19	37880001	37880001	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:37880001G>A	uc010efk.1	+	4	1161	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	ZNF527_uc002ogf.3_Silent_p.R318R|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACATCAGAGGATCCACACTG	0.438000														74			51		0	0	0.003610	0	0
BZW2	28969	broad.mit.edu	37	7	16725628	16725628	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:16725628C>T	uc003stj.2	+	5	666	c.504C>T	c.(502-504)atC>atT	p.I168I	BZW2_uc011jxx.1_Intron|BZW2_uc003stl.2_Silent_p.I168I|BZW2_uc003stm.2_Intron|BZW2_uc003stn.1_Silent_p.I168I|BZW2_uc003sto.1_Silent_p.I16I	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	168					RNA metabolic process|cell differentiation|nervous system development		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCGCCACCATCCTCACCAGTC	0.493000														12			9		0	0	0.008291	0	0
INSRR	3645	broad.mit.edu	37	1	156815088	156815088	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:156815088C>T	uc010pht.2	-	12	2516	c.2217_splice	c.e12-1	p.R739_splice	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	739					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCTGAGTCCCTGGGGAGAG	0.687000														138			170		0	0	0.003610	0	0
KCNH6	81033	broad.mit.edu	37	17	61619602	61619602	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61619602G>A	uc002jay.3	+	9	2035	c.1955_splice	c.e9-1	p.G652_splice	KCNH6_uc010wpl.2_Splice_Site_p.G529_splice|KCNH6_uc010wpm.2_Splice_Site_p.G652_splice|KCNH6_uc002jaz.1_Splice_Site_p.G599_splice	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	652					regulation of transcription, DNA-dependent|signal transduction			p.G652E(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGCTGGCAGGAAAGAATGAC	0.587000														350			179		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107062397	107062397	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:107062397G>A	uc021ser.1	-	150		c.6589C>T								Parts of antibodies, mostly variable regions.																		ACCAGTCCTGGGCCCGACTCC	0.607000														219			86		0	0	0.003610	0	0
ITIH6	347365	broad.mit.edu	37	X	54777626	54777626	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:54777626G>A	uc004dtj.2	-	11	3570	c.3540C>T	c.(3538-3540)gcC>gcT	p.A1180A		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1180					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCTTCAGCAGGGCAGGTTGGT	0.602000														28			41		0	0	0.006999	0	0
LPAR2	9170	broad.mit.edu	37	19	19735326	19735326	+	Silent	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:19735326A>G	uc002nnb.4	-	2	934	c.795T>C	c.(793-795)ggT>ggC	p.G265G	LPAR2_uc002nna.4_Silent_p.G265G|LPAR2_uc002nnc.4_Silent_p.G265G	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	Homo sapiens lysophosphatidic acid receptor 2 (LPAR2), mRNA.	265					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						CACAGCCTAAACCATCCAGGA	0.592000														304			156		0	0	0.003610	0	0
ATP2B4	493	broad.mit.edu	37	1	203668664	203668664	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:203668664T>C	uc001gzw.3	+	3	1365	c.468T>C	c.(466-468)ctT>ctC	p.L156L	ATP2B4_uc001gzv.3_Silent_p.L156L|ATP2B4_uc009xaq.3_Silent_p.L156L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	156					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGCCATCCTTTTCTCAGTGA	0.498000														135			190		0	0	0.003610	0	0
AP1G2	8906	broad.mit.edu	37	14	24033353	24033353	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:24033353T>C	uc001wkl.2	-	10	1330	c.993A>G	c.(991-993)acA>acG	p.T331T	AP1G2_uc001wkk.3_Silent_p.T259T|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_Non-coding_Transcript|AP1G2_uc010tnp.1_Silent_p.T331T	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	331					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GAAGCAGTGATGTCAGGGCTA	0.567000														145			103		0	0	0.003610	0	0
MIOX	55586	broad.mit.edu	37	22	50927488	50927488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:50927488C>T	uc003bll.1	+	5	542	c.428C>T	c.(427-429)aCc>aTc	p.T143I	MIOX_uc003blm.1_Missense_Mutation_p.T143I|MIOX_uc003bln.1_Missense_Mutation_p.P154S	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	143					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCGGCGACACCTTCCCCGTC	0.652000														160			80		0	0	0.003610	0	0
VIT	5212	broad.mit.edu	37	2	36982174	36982174	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:36982174G>A	uc002rpl.3	+	4	688	c.386G>A	c.(385-387)tGg>tAg	p.W129*	VIT_uc002rpk.3_Nonsense_Mutation_p.W129*|VIT_uc010ynf.2_Nonsense_Mutation_p.W122*|VIT_uc002rpm.3_Nonsense_Mutation_p.W129*|VIT_uc010ezv.3_Nonsense_Mutation_p.W129*|VIT_uc010ezw.3_Nonsense_Mutation_p.W129*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	129	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTACCACGATGGAGAGAATCC	0.438000														28			10		0	0	0.006214	0	0
CD86	942	broad.mit.edu	37	3	121838341	121838341	+	Missense_Mutation	SNP	C	T	T	rs141281931		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121838341C>T	uc003eet.3	+	6	1078	c.950C>T	c.(949-951)tCg>tTg	p.S317L	CD86_uc011bjo.2_Missense_Mutation_p.S235L|CD86_uc011bjp.2_Missense_Mutation_p.S205L|CD86_uc003eeu.3_Missense_Mutation_p.S311L|CD86_uc021xcz.1_Missense_Mutation_p.S263L	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	317					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTAAAAGTTCGAAGACATCT	0.333000														61			20		0	0	0.002780	0	0
FYCO1	79443	broad.mit.edu	37	3	46023136	46023136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46023136C>T	uc011bal.1	-	1	200	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	FYCO1_uc003cpb.4_Missense_Mutation_p.E30K	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	30					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCCCCTGCTTCCTGAAATTCT	0.388000														296			183		0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411657	105411657	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:105411657C>T	uc010axc.1	-	6	10251	c.10131G>A	c.(10129-10131)ccG>ccA	p.P3377P	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.P3277P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3377						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTGGCCCTCCGGGAGCTTCA	0.637000														594			358		0	0	0.003610	0	0
HIC2	23119	broad.mit.edu	37	22	21800779	21800779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:21800779C>T	uc002zur.4	+	2	1825	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	HIC2_uc002zus.4_Missense_Mutation_p.P532L	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	532					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTGACACGGCCCTTCCCCTGC	0.637000														353			200		0	0	0.003610	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131106	150131106	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:150131106C>T	uc001ett.3	+	5	896	c.618C>T	c.(616-618)agC>agT	p.S206S	PLEKHO1_uc001ets.3_Silent_p.S23S|PLEKHO1_uc001etu.3_Silent_p.S34S|PLEKHO1_uc021oyc.1_Silent_p.S23S	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	206	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGCTGAGAGCTTTCGGGTTG	0.617000														330			411		0	0	0.003610	0	0
TALDO1	6888	broad.mit.edu	37	11	758967	758967	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:758967T>A	uc001lqz.3	+	2	289	c.239T>A	c.(238-240)aTt>aAt	p.I80N	TALDO1_uc010qwl.2_Missense_Mutation_p.I80N|TALDO1_uc001lra.3_Missense_Mutation_p.I80N	NM_006755	NP_006746	P37837	TALDO_HUMAN	Homo sapiens transaldolase 1 (TALDO1), mRNA.	80					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GAGGACCAGATTAAAAATGCT	0.448000														499			391		0	0	0.003610	0	0
ACCSL	390110	broad.mit.edu	37	11	44072949	44072949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:44072949G>A	uc001mxw.1	+	3	756	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	ACCSL_uc009ykr.2_Missense_Mutation_p.E53K	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	234							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						ACTTGACCCAGAAAATGTGAG	0.567000														68			77		0	0	0.003610	0	0
DARC	2532	broad.mit.edu	37	1	159175422	159175422	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:159175422T>G	uc001ftp.4	+	0	374	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	DARC_uc001fto.3_Missense_Mutation_p.F65V	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	65					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ACTGCCCTTCTTCATCCTCAC	0.562000														711			30		0	0	0.007291	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189689	50189689	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:50189689G>C	uc009zlk.2	-	7	2156	c.1954C>G	c.(1954-1956)Cga>Gga	p.R652G	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R245G	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	648										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TCCCCAGGTCGCCGTCCTGAC	0.662000														87			30		0	0	0.007291	0	0
SHROOM3	57619	broad.mit.edu	37	4	77476894	77476894	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:77476894A>C	uc011cbx.2	+	1	1254	c.301A>C	c.(301-303)Acc>Ccc	p.T101P		NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	101	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATCCTACAAGACCCTCAGGCT	0.587000														48			53		0	0	0.003610	0	0
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:48413860G>A	uc001jfa.1	-	1	1168	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	336					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.F336F(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607000														311			139		0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219875354	219875355	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219875354_219875355GG>AA	uc002vjl.1	-	25	4305_4306	c.4221_4222CC>TT	c.(4219-4224)ccccat>ccTTat	p.H1408Y		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1408						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCATCATATGGGGGTTGTAGC	0.594000														104			59		0	0	0.004672	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890670	23890670	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:23890670C>T	uc001ywj.4	-	0	2324	c.2220G>A	c.(2218-2220)aaG>aaA	p.K740K		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCCTGCGCTCCTTCGAGGAGG	0.592000														192			168		0	0	0.003610	0	0
GPR55	9290	broad.mit.edu	37	2	231775515	231775515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:231775515C>T	uc021vxz.1	-	0	163	c.163G>A	c.(163-165)Gat>Aat	p.D55N	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.D55N|GPR55_uc010fxs.1_Missense_Mutation_p.D55N	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	55					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GCAGCATAATCGGGCCACCTG	0.562000														160			93		0	0	0.003610	0	0
TEX14	56155	broad.mit.edu	37	17	56646619	56646619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:56646619C>T	uc010dcz.2	-	26	4076	c.3958G>A	c.(3958-3960)Gaa>Aaa	p.E1320K	TEX14_uc002iwr.2_Missense_Mutation_p.E1314K|TEX14_uc002iws.2_Missense_Mutation_p.E1274K|TEX14_uc010dda.2_Missense_Mutation_p.E1054K	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1320						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAAGGCTTCTACTAGTTTT	0.413000														61			40		0	0	0.008740	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3763391	3763391	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:3763391G>A	uc010sen.1	-	9	1605	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	EFCAB4B_uc001qmj.2_Nonsense_Mutation_p.Q345*|EFCAB4B_uc001qmi.1_Non-coding_Transcript	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	345					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCCTTCTCTTGGTGGAGTTTG	0.607000														93			80		0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175364	207175364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:207175364G>A	uc002vbp.2	+	4	6362	c.6112G>A	c.(6112-6114)Gat>Aat	p.D2038N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2038							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTGGGATAATGATATTCGGTT	0.358000														12			11		0	0	0.008291	0	0
ALMS1	7840	broad.mit.edu	37	2	73675293	73675293	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:73675293C>T	uc002sje.1	+	7	1747	c.1636C>T	c.(1636-1638)Cta>Tta	p.L546L	ALMS1_uc002sjf.1_Silent_p.L504L|ALMS1_uc002sjg.3_5'UTR|ALMS1_uc002sjh.1_5'UTR	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	546	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGATACTCATCTAACTGAAGA	0.453000														28			14		0	0	0.003163	0	0
TGM3	7053	broad.mit.edu	37	20	2315831	2315831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2315831G>A	uc002wfx.4	+	10	1809	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	571					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AACATGATCCGGATCACAGCG	0.552000														141			89		0	0	0.003610	0	0
ZHX3	23051	broad.mit.edu	37	20	39831811	39831811	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:39831811G>A	uc010ggg.1	-	0	1896	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	ZHX3_uc002xjr.1_Silent_p.V582V|ZHX3_uc002xjs.1_Silent_p.V582V|ZHX3_uc002xjt.1_Silent_p.V582V|ZHX3_uc002xju.1_Silent_p.V582V|ZHX3_uc002xjv.1_Silent_p.V582V|ZHX3_uc002xjw.1_Silent_p.V582V	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	582					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTACCTCAGGGACCTTGGACG	0.532000														194			114		0	0	0.003610	0	0
PRTG	283659	broad.mit.edu	37	15	56032592	56032592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:56032592G>A	uc002adg.3	-	1	433	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	129	Ig-like 1.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GATAAGGCAAGATGAGCTTTT	0.373000														556			338		0	0	0.003610	0	0
PRKAG3	53632	broad.mit.edu	37	2	219696074	219696075	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:219696074_219696075CC>TT	uc002vjb.1	-	1	76_77	c.57_58GG>AA	c.(55-60)gggggt>ggAAgt	p.G20S	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Missense_Mutation_p.G20S|PRKAG3_uc010zko.1_Missense_Mutation_p.G20S	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	20					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCAGAACCCCCAAGGCTGC	0.584000														164			90		0	0	0.004672	0	0
DNAH11	8701	broad.mit.edu	37	7	21789384	21789384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:21789384G>A	uc003svc.3	+	53	8814	c.8783G>A	c.(8782-8784)aGc>aAc	p.S2928N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2928	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTAGATGAGAGCTTCCTCGTG	0.438000									Kartagener syndrome					13			12		0	0	0.001368	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222055	42222055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:42222055G>A	uc002orl.3	+	5	1367	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	CEACAM5_uc002orj.1_Missense_Mutation_p.D415N	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	416	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGATGGCCCAGACGACCCCAC	0.562000														203			113		0	0	0.003610	0	0
TTC18	118491	broad.mit.edu	37	10	75037955	75037955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:75037955C>T	uc009xrc.3	-	20	2711	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	TTC18_uc001jty.3_Missense_Mutation_p.E864K|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.E245K	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	864							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GTTGGTATCTCCTTGATAAAT	0.383000														96			57		0	0	0.003610	0	0
SYCP2	10388	broad.mit.edu	37	20	58475246	58475246	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:58475246A>T	uc002yaz.3	-	16	1490	c.1351T>A	c.(1351-1353)Tca>Aca	p.S451T	SYCP2_uc010gju.1_Missense_Mutation_p.S352T	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	451					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATATTTTGAAGGTTTAGCA	0.358000														52			32		0	0	0.009535	0	0
FGD1	2245	broad.mit.edu	37	X	54496554	54496554	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:54496554G>A	uc004dtg.3	-	3	1730	c.996C>T	c.(994-996)tcC>tcT	p.S332S	FGD1_uc011moi.1_Silent_p.S90S	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	332					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAACCTCTTGGGAGCCAGGCC	0.647000														29			120		0	0	0.003610	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827660	14827660	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:14827660C>A	uc001rcd.3	-	7	1120	c.983G>T	c.(982-984)gGa>gTa	p.G328V	GUCY2C_uc009zhz.2_Missense_Mutation_p.G328V	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	328					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GAGCAGGATTCCATTCAAATA	0.348000														42			21		2.4624e-09	3.58803e-09	0.008871	1	0
UNC13D	201294	broad.mit.edu	37	17	73838692	73838692	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:73838692A>G	uc002jpp.3	-	5	771	c.391T>C	c.(391-393)Ttc>Ctc	p.F131L	UNC13D_uc010wsk.1_Missense_Mutation_p.F131L|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'UTR	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	131	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGTCGCTGAACCCTGTGGAG	0.711000									Familial Hemophagocytic Lymphohistiocytosis					329			194		0	0	0.003610	0	0
C1orf172	126695	broad.mit.edu	37	1	27277248	27277248	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:27277248C>T	uc001bni.2	-	3	1133	c.1040_splice	c.e3-1	p.E347_splice	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	347										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		ACTGTCAGCTCTAGGGAGGGA	0.562000														412			241		0	0	0.003610	0	0
RTP3	83597	broad.mit.edu	37	3	46541994	46541994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46541994G>A	uc003cps.1	+	1	372	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	102					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ACCTCTGTTTGAGGACCCTGA	0.468000														529			390		0	0	0.003610	0	0
ACTN3	89	broad.mit.edu	37	11	66328765	66328765	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:66328765A>T	uc021qma.1	+	5	695	c.182A>T	c.(181-183)gAg>gTg	p.E61V	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	643	Actin-binding.|CH 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAGGTAAACGAGAGGCTCCGG	0.637000														90			65		0	0	0.003610	0	0
OASL	8638	broad.mit.edu	37	12	121471316	121471317	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:121471316_121471317CC>TT	uc001tzj.1	-	1	434_435	c.428_429GG>AA	c.(427-429)agg>aAA	p.R143K	OASL_uc001tzk.1_Missense_Mutation_p.R143K	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	143					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGCAGTCCCCCTGGTCTGGAT	0.624000														684			203		0	0	0.004672	0	0
CCDC50	152137	broad.mit.edu	37	3	191093238	191093238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:191093238C>T	uc003fsv.3	+	5	1426	c.836C>T	c.(835-837)tCc>tTc	p.S279F	CCDC50_uc003fsw.3_Intron	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	296						cytoplasm	protein binding	p.S279S(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TCACCCAAGTCCTCACAAAAA	0.483000														17			12		0	0	0.002450	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139781730	139781730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:139781730G>A	uc003lfs.2	+	0	332	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.G60S|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.G60S|BC030152_uc003lfn.3_5'Flank|ANKHD1-EIF4EBP3_uc003lfo.3_Missense_Mutation_p.G60S|ANKHD1-EIF4EBP3_uc003lfp.3_Missense_Mutation_p.G60S|ANKHD1-EIF4EBP3_uc010jfk.3_Missense_Mutation_p.G60S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	60						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcagcagcggcggcggcgg	0.756000														121			6		0	0	0.001168	0	0
C2orf65	130951	broad.mit.edu	37	2	74842098	74842098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:74842098G>A	uc002smy.3	-	2	536	c.419C>T	c.(418-420)tCc>tTc	p.S140F	C2orf65_uc010ysa.2_Missense_Mutation_p.S140F|C2orf65_uc002smz.2_Missense_Mutation_p.S140F	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	140					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						TACCTCCAGGGAGGTATAGGT	0.468000														98			66		0	0	0.003610	0	0
ASXL1	171023	broad.mit.edu	37	20	31024358	31024358	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:31024358C>T	uc021wbw.1	+	12	4275	c.3843C>T	c.(3841-3843)tcC>tcT	p.S1281S	ASXL1_uc002wxs.3_Silent_p.S1280S|ASXL1_uc010geb.3_Silent_p.S1172S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1281					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATGTGATCTCCTTTGGTCCAG	0.507000			"""F, N, Mis"""		"""MDS, CMML"""									487			309		0	0	0.003610	0	0
OR4K1	79544	broad.mit.edu	37	14	20404482	20404482	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20404482C>T	uc001vwj.2	+	0	716	c.657C>T	c.(655-657)acC>acT	p.T219T		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTCCTACACCATCATTTTGA	0.443000														104			26		0	0	0.003330	0	0
KCTD7	154881	broad.mit.edu	37	7	66103255	66103255	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:66103255C>T	uc003tve.3	+	2	514	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RABGEF1_uc003tvf.3_5'UTR|KCTD7_uc003tvd.4_Silent_p.F110F	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.	110	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGCTGAATTTCCTGCGCTCAG	0.552000														412			258		0	0	0.003610	0	0
HTR1E	3354	broad.mit.edu	37	6	87725874	87725874	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:87725874C>T	uc003pli.3	+	1	1525	c.822C>T	c.(820-822)caC>caT	p.H274H	HTR1E_uc021zcg.1_Silent_p.H274H	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	274					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	ATCTAGATCACCCAGGAGAAC	0.517000														175			320		0	0	0.003610	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072434	34072434	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:34072434C>T	uc002hjv.2	-	5	2110	c.2082G>A	c.(2080-2082)ggG>ggA	p.G694G		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	694					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCCCAACTTCCCTTTGAGGC	0.627000														583			352		0	0	0.003610	0	0
CUL1	8454	broad.mit.edu	37	7	148484200	148484200	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:148484200C>T	uc010lpg.3	+	12	1993	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	CUL1_uc003wey.3_Silent_p.I489I|CUL1_uc003wez.3_Silent_p.I379I|CUL1_uc003wfa.3_Silent_p.I150I	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	489					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCAGCATGATCTCCAAGTTAA	0.468000														377			217		0	0	0.003610	0	0
FEM1A	55527	broad.mit.edu	37	19	4793084	4793084	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:4793084C>T	uc002mbf.3	+	0	1357	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	406					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.F406F(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGGGCAATTTCGAGCGCTGCA	0.622000														520			316		0	0	0.003610	0	0
CACNA1S	779	broad.mit.edu	37	1	201030530	201030530	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:201030530C>T	uc001gvv.3	-	24	3347	c.3120G>A	c.(3118-3120)gaG>gaA	p.E1040E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1040	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGCCATCTCCACACGGT	0.527000														389			162		0	0	0.003610	0	0
LRRC66	339977	broad.mit.edu	37	4	52861761	52861761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:52861761C>T	uc003gzi.3	-	3	1434	c.1427G>A	c.(1426-1428)gGa>gAa	p.G476E		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	476						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTGCTCCTTCCCAGAGTTCT	0.547000														86			17		0	0	0.004990	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78317818	78317818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:78317818G>A	uc002bcy.4	-	4	869	c.869C>T	c.(868-870)cCc>cTc	p.P290L	TBC1D2B_uc010bla.3_Missense_Mutation_p.P290L	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	290						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AAAATCAAAGGGGAATCCTGA	0.408000														67			52		0	0	0.003610	0	0
ERC2	26059	broad.mit.edu	37	3	56468606	56468606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:56468606C>T	uc021wzo.1	-	0	570	c.430G>A	c.(430-432)Gac>Aac	p.D144N	ERC2_uc003dhr.1_Missense_Mutation_p.D144N	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	144						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATTGTGCTGTCTCTTACCTGC	0.507000														161			64		0	0	0.003610	0	0
ARSH	347527	broad.mit.edu	37	X	2951408	2951408	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:2951408C>T	uc011mhj.2	+	8	1671	c.1671C>T	c.(1669-1671)atC>atT	p.I557I		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	557						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAGATGACATCCTTCCCATGG	0.512000														4			14		0	0	0.004007	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582627	64582627	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:64582627A>G	uc003dmg.3	-	26	4090	c.4058T>C	c.(4057-4059)gTt>gCt	p.V1353A	ADAMTS9_uc011bfo.2_Missense_Mutation_p.V1325A|ADAMTS9_uc003dmh.1_Missense_Mutation_p.V1182A|ADAMTS9_uc011bfp.1_Missense_Mutation_p.V264A	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1353	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGACATACAACAACACGCCG	0.498000														166			97		0	0	0.003610	0	0
FBXO7	25793	broad.mit.edu	37	22	32875101	32875101	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:32875101A>G	uc003amq.3	+	1	539	c.256A>G	c.(256-258)Aat>Gat	p.N86D	FBXO7_uc003amp.1_Intron|FBXO7_uc003amt.3_Intron|FBXO7_uc003amu.3_5'UTR	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	86					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCAGCGCCTAATATACCTTC	0.453000														588			307		0	0	0.003610	0	0
MAP1S	55201	broad.mit.edu	37	19	17836861	17836861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17836861C>T	uc002nhe.1	+	4	677	c.668C>T	c.(667-669)cCc>cTc	p.P223L	MAP1S_uc010eaz.2_5'UTR|MAP1S_uc010xpv.1_Missense_Mutation_p.P197L	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	223	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCACCGTCCCCCTTCGAGCTG	0.692000														201			103		0	0	0.003610	0	0
HMGB3P1	128872	broad.mit.edu	37	20	33421470	33421470	+	RNA	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:33421470A>G	uc002xax.3	-	0		c.796T>C								Homo sapiens high mobility group box 3 pseudogene 1 (HMGB3P1), non-coding RNA.																		GTGCCGTCCAACTTTCCTTTC	0.413000														50			33		0	0	0.002096	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340355	29340355	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:29340355C>T	uc002kxa.2	-	0	489	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	90					transport	integral to membrane|mitochondrial inner membrane											TAGTTGTCTTCTGCATCAATG	0.488000														466			289		0	0	0.003610	0	0
CCNB3	85417	broad.mit.edu	37	X	50094252	50094252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:50094252G>A	uc004dox.4	+	11	4271	c.3973G>A	c.(3973-3975)Gag>Aag	p.E1325K	CCNB3_uc004doy.3_Missense_Mutation_p.E1325K|CCNB3_uc004doz.3_Missense_Mutation_p.E221K|CCNB3_uc010njq.3_Missense_Mutation_p.E217K|CCNB3_uc004dpa.3_Missense_Mutation_p.E164K	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1325					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCCCTTCCTGGAGCATTACAG	0.473000														20			76		0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	10992670	10992670	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:10992670G>A	uc003jfa.1	-	18	3349	c.3204C>T	c.(3202-3204)aaC>aaT	p.N1068N	CTNND2_uc010itt.2_Silent_p.N977N|CTNND2_uc011cmy.1_Silent_p.N731N|CTNND2_uc011cmz.1_Silent_p.N635N|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.N660N	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1068					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TACCTGAGCGGTTGTTGGGAG	0.597000														162			172		0	0	0.003610	0	0
OR8B3	390271	broad.mit.edu	37	11	124266729	124266729	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:124266729G>A	uc010saj.2	-	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATGGTTGATGATATTAGCAC	0.483000														53			56		0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8499786	8499786	+	Missense_Mutation	SNP	A	C	C	rs141698449		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:8499786A>C	uc003zkk.3	-	24	2926	c.2183T>G	c.(2182-2184)gTt>gGt	p.V728G	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	728	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGAGACTTTAACAGATGTTGA	0.473000										TSP Lung(15;0.13)				44			35		0	0	0.003271	0	0
OR4N2	390429	broad.mit.edu	37	14	20296159	20296159	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20296159C>T	uc010tkv.2	+	0	552	c.552C>T	c.(550-552)gtC>gtT	p.V184V		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCCACAGGTCATCAAGCTGG	0.542000														145			37		0	0	0.007835	0	0
LAMB3	3914	broad.mit.edu	37	1	209803111	209803111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:209803111G>A	uc001hhg.3	-	8	1493	c.1103C>T	c.(1102-1104)cCg>cTg	p.P368L	LAMB3_uc009xco.3_Missense_Mutation_p.P368L|LAMB3_uc001hhh.3_Missense_Mutation_p.P368L|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	368	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.R367H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGAAGCTCCCGGGCGCCGGTT	0.567000														451			163		0	0	0.003610	0	0
DNAAF1	123872	broad.mit.edu	37	16	84209740	84209740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:84209740G>A	uc002fhl.4	+	10	2081	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	DNAAF1_uc010vnw.2_Missense_Mutation_p.E398K	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	634					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.L633S(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GAGGGACTTGGAAATCCGAAA	0.517000														136			109		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9074994	9074994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9074994G>A	uc002mkp.3	-	2	12656	c.12452C>T	c.(12451-12453)cCc>cTc	p.P4151L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4153	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P4150T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCACAGAGGGAGGGCTTGG	0.502000														56			37		0	0	0.004878	0	0
CATSPERD	257062	broad.mit.edu	37	19	5757867	5757867	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:5757867A>G	uc002mda.3	+	13	1353	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	CATSPERD_uc010duj.1_Missense_Mutation_p.N89S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	431						integral to membrane											ATGGTGAGCAACCCCCACTCC	0.607000														101			52		0	0	0.003610	0	0
CAMKV	79012	broad.mit.edu	37	3	49897933	49897933	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:49897933G>A	uc003cxt.1	-	8	1018	c.825C>T	c.(823-825)atC>atT	p.I275I	CAMKV_uc011bcy.1_Silent_p.I200I|CAMKV_uc003cxv.1_Silent_p.I247I|CAMKV_uc003cxw.1_Silent_p.I107I|CAMKV_uc003cxx.1_Silent_p.I107I|CAMKV_uc003cxu.2_Silent_p.I275I|CAMKV_uc011bcz.1_Silent_p.I238I|CAMKV_uc011bda.1_Silent_p.I232I|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	275	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.R274W(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTCTGCAGTGATCCGCTGGT	0.597000														93			54		0	0	0.003610	0	0
KIAA1274	27143	broad.mit.edu	37	10	72324241	72324241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:72324241C>T	uc001jrd.4	+	18	2665	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	KIAA1274_uc001jre.4_Missense_Mutation_p.S86F	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	795										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AAGGCCGACTCCTGGCAGAGG	0.637000														484			205		0	0	0.003610	0	0
DHX29	54505	broad.mit.edu	37	5	54552319	54552319	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:54552319G>A	uc003jpx.3	-	26	4227	c.4107C>T	c.(4105-4107)aaC>aaT	p.N1369N	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	1369							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTCAGTTTCAGTTATTCTCTG	0.303000														22			16		0	0	0.007413	0	0
REM1	28954	broad.mit.edu	37	20	30064251	30064251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:30064251G>A	uc002wwa.3	+	1	287	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	1					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TACCAAAGATGACACTCAACA	0.577000														443			247		0	0	0.003610	0	0
AK5	26289	broad.mit.edu	37	1	78001592	78001592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:78001592C>T	uc001dhn.3	+	12	1826	c.1489C>T	c.(1489-1491)Ctt>Ttt	p.L497F	AK5_uc001dho.3_Missense_Mutation_p.L471F	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	497					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GACCAACCGCCTTCTCCAAAG	0.582000														134			88		0	0	0.003610	0	0
KDM5B	10765	broad.mit.edu	37	1	202701055	202701055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:202701055G>A	uc009xag.3	-	24	4146	c.4030C>T	c.(4030-4032)Cct>Tct	p.P1344S	KDM5B_uc001gyf.3_Missense_Mutation_p.P1308S|KDM5B_uc001gyg.1_Missense_Mutation_p.P1150S	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1308					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTTGTGCCAGGAGGTTGAGAT	0.428000														205			91		0	0	0.003610	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337785	94337785	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:94337785C>G	uc001dqf.3	-	4	1968	c.1910G>C	c.(1909-1911)cGa>cCa	p.R637P	DNTTIP2_uc010otm.2_Non-coding_Transcript	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E636E(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TGTTTTTTGTCGTTCTTTCTG	0.343000														263			138		0	0	0.003610	0	0
SPPL3	121665	broad.mit.edu	37	12	121205252	121205252	+	Silent	SNP	G	A	A	rs148802591	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:121205252G>A	uc001tzd.3	-	8	1403	c.918C>T	c.(916-918)tcC>tcT	p.S306S	SPPL3_uc001tzc.3_Silent_p.S136S	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	307						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCATGCGCCCGGAGATGTTGG	0.532000														66			70		0	0	0.003610	0	0
ANKRD45	339416	broad.mit.edu	37	1	173616142	173616142	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:173616142G>A	uc001gja.1	-	2	400	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	129										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CACAATGTAAGAGTGTGTACC	0.408000														22			44		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141128855	141128855	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:141128855C>T	uc002tvj.1	-	70	11741	c.10769_splice	c.e70-1	p.A3590_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3590					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAGGAGAAGCTGAATACAAT	0.284000										TSP Lung(27;0.18)				6			4		0	0	0.000602	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222354	142222354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:142222354G>A	uc003ywd.1	-	6	2398	c.2090C>T	c.(2089-2091)aCc>aTc	p.T697I	SLC45A4_uc003ywc.1_Missense_Mutation_p.T697I|SLC45A4_uc010meq.1_Missense_Mutation_p.T695I	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	748					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTTCAGCACGGTGGGCTTTTC	0.637000														163			136		0	0	0.003610	0	0
MPP2	4355	broad.mit.edu	37	17	41955296	41955297	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:41955296_41955297CC>TT	uc010win.1	-	11	1723_1724	c.1120_1121GG>AA	c.(1120-1122)ggg>AAg	p.G374K	MPP2_uc002ien.1_Missense_Mutation_p.G530K|MPP2_uc010wim.1_Missense_Mutation_p.G502K|MPP2_uc002ieo.1_Missense_Mutation_p.G513K|MPP2_uc010wio.1_Missense_Mutation_p.G502K|MPP2_uc010wip.1_Missense_Mutation_p.G558K			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	537	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AAAGTAGTGCCCGTAGCCCCGC	0.629000														273			145		0	0	0.004672	0	0
UNC13C	440279	broad.mit.edu	37	15	54306845	54306845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:54306845C>T	uc021smr.1	+	0	1745	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L	UNC13C_uc021sms.1_Missense_Mutation_p.S582L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	582					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGTCATCTTCGGACCGGGAG	0.448000														34			16		0	0	0.003163	0	0
ZNF536	9745	broad.mit.edu	37	19	30935622	30935622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:30935622C>T	uc002nsu.1	+	1	1291	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	ZNF536_uc010edd.1_Missense_Mutation_p.P385S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTTCAAGGAGCCCTGGTTCCT	0.597000														469			270		0	0	0.003610	0	0
KIF2C	11004	broad.mit.edu	37	1	45227596	45227596	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:45227596G>A	uc001cmg.4	+	16	1807	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	KIF2C_uc010olb.2_Silent_p.T523T|KIF2C_uc010olc.2_Silent_p.T451T|KIF2C_uc001cmh.4_Silent_p.T510T	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	564					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AGATTGCCACGATCTCACCAG	0.512000														272			151		0	0	0.003610	0	0
OR51B5	282763	broad.mit.edu	37	11	5364578	5364578	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5364578G>A	uc001map.1	-	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.F59F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCAGAAAGAAGTACATGG	0.507000														16			14		0	0	0.002450	0	0
PLA2G3	50487	broad.mit.edu	37	22	31535838	31535838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:31535838G>A	uc003aka.3	-	0	632	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	168	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						cagctccgAGGAGTTCCCAGC	0.617000														163			121		0	0	0.003610	0	0
ERN1	2081	broad.mit.edu	37	17	62144126	62144126	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:62144126G>A	uc002jdz.2	-	7	860	c.747C>T	c.(745-747)acC>acT	p.T249T		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	249					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GATAGCGCAGGGTCTCCACAG	0.572000														70			31		0	0	0.009535	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307002	39307002	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:39307002C>T	uc021wwc.1	-	1	1135	c.1095G>A	c.(1093-1095)agG>agA	p.R365R	CX3CR1_uc021wwa.1_Silent_p.R333R|CX3CR1_uc021wwb.1_Silent_p.R333R|CX3CR1_uc003cjl.3_Silent_p.R333R|CX3CR1_uc021wwd.1_Silent_p.R333R	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	333					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CACTTCCATGCCTGCTCCTTT	0.483000														190			106		0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76464942	76464942	+	Silent	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:76464942T>A	uc010dhp.2	-	54	8660	c.8535A>T	c.(8533-8535)atA>atT	p.I2845I	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCAGCCTTTATGTACTGAG	0.537000														244			169		0	0	0.003610	0	0
VWA5A	4013	broad.mit.edu	37	11	123993780	123993780	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:123993780A>G	uc001pzu.3	+	7	1083	c.874A>G	c.(874-876)Atg>Gtg	p.M292V	VWA5A_uc001pzr.3_Missense_Mutation_p.M292V|VWA5A_uc001pzs.3_Missense_Mutation_p.M292V|VWA5A_uc010sae.2_Missense_Mutation_p.M308V|VWA5A_uc001pzt.3_Missense_Mutation_p.M292V	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	292	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTCGGGAAGTATGCAGAGCCC	0.463000														96			23		0	0	0.001882	0	0
MVP	9961	broad.mit.edu	37	16	29841948	29841948	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:29841948C>T	uc002dui.3	+	1	230	c.78C>T	c.(76-78)tcC>tcT	p.S26S	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Silent_p.S26S|MVP_uc010vea.2_5'Flank	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	26					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCAACGTGTCCCGTGTGGAGG	0.592000														301			174		0	0	0.003610	0	0
OAS3	4940	broad.mit.edu	37	12	113403602	113403602	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113403602C>T	uc001tug.3	+	11	2544	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	819	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ATGCCGACCTCGTGGTGTTCC	0.607000														36			16		0	0	0.007413	0	0
OR4M1	441670	broad.mit.edu	37	14	20248579	20248579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20248579C>T	uc010tku.2	+	0	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S33Y(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTCTATCCTTCTATTTG	0.413000														347			91		0	0	0.003610	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68939712	68939712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:68939712G>A	uc003hdt.1	-	3	347	c.298C>T	c.(298-300)Cga>Tga	p.R100*	LOC550112_uc003hdl.4_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	100	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAAGAATGTCGAAATATCCTA	0.244000														9			19		0	0	0.002780	0	0
CHD4	1108	broad.mit.edu	37	12	6700684	6700684	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:6700684G>A	uc001qpo.3	-	21	3452	c.3288C>T	c.(3286-3288)atC>atT	p.I1096I	CHD4_uc001qpn.3_Silent_p.I1089I|CHD4_uc001qpp.3_Silent_p.I1093I	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1096	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCCACCATCGATGCGTTCGT	0.433000														167			193		0	0	0.003610	0	0
OR10A7	121364	broad.mit.edu	37	12	55615353	55615353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:55615353C>T	uc010spf.2	+	0	545	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182L(2)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGTGATGGTCCCCCAGTGTTA	0.463000														44			9		0	0	0.004482	0	0
SDK1	221935	broad.mit.edu	37	7	4259903	4259903	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:4259903G>A	uc003smx.3	+	39	5840	c.5701_splice	c.e39+1	p.G1901_splice	SDK1_uc010kso.3_Splice_Site_p.G1157_splice|SDK1_uc003smy.3_Splice_Site_p.G388_splice	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1901					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGCCGAGGGTAAGTGGAAC	0.562000														325			166		0	0	0.003610	0	0
RBBP6	5930	broad.mit.edu	37	16	24582320	24582320	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:24582320C>T	uc002dmh.3	+	17	4973	c.3933C>T	c.(3931-3933)atC>atT	p.I1311I	RBBP6_uc002dmi.3_Silent_p.I1277I|RBBP6_uc010bxr.3_Silent_p.I471I|RBBP6_uc002dmk.3_Silent_p.I1144I	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1311					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGATGTTATCATTATGATTC	0.363000														261			138		0	0	0.003610	0	0
ABCA9	10350	broad.mit.edu	37	17	66972067	66972067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:66972067C>T	uc002jhu.3	-	38	5007	c.4864G>A	c.(4864-4866)Gaa>Aaa	p.E1622K	ABCA9_uc010dez.3_Missense_Mutation_p.E1584K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1622					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAAGGCTCTTCCTGCAGGAGG	0.423000														21			9		0	0	0.008291	0	0
NOMO2	283820	broad.mit.edu	37	16	18554963	18554963	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:18554963G>A	uc002dfe.3	-	6	783	c.711C>T	c.(709-711)ctC>ctT	p.L237L	NOMO2_uc002dff.3_Silent_p.L237L|NOMO2_uc010bvx.3_Silent_p.L70L	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	237						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						AAGAAGAAAAGAGAAGAAACT	0.463000														285			160		0	0	0.003610	0	0
PDE3A	5139	broad.mit.edu	37	12	20774250	20774250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:20774250C>T	uc001reh.2	+	4	1485	c.1445C>T	c.(1444-1446)cCa>cTa	p.P482L	PDE3A_uc021qwa.1_Missense_Mutation_p.P160L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	482					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGAATAATCCAGTGATGATG	0.388000														5			6		0	0	0.003080	0	0
GEMIN4	50628	broad.mit.edu	37	17	649222	649222	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:649222G>A	uc002frs.1	-	1	2180	c.2061C>T	c.(2059-2061)taC>taT	p.Y687Y		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	687					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCTGGAGCCAGTATTCCTCTC	0.532000														66			143		0	0	0.003610	0	0
KDM4A	9682	broad.mit.edu	37	1	44149375	44149375	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:44149375T>A	uc001cjx.3	+	11	1921	c.1755T>A	c.(1753-1755)ttT>ttA	p.F585L	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	585					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AATACATGTTTTCCCTAGAAG	0.468000														118			75		0	0	0.003610	0	0
OR10C1	442194	broad.mit.edu	37	6	29408527	29408527	+	Silent	SNP	C	T	T	rs138514441	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:29408527C>T	uc011dlp.2	+	0	812	c.735C>T	c.(733-735)atC>atT	p.I245I	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCACCTGATCATGGTCTCCC	0.582000														554			336		0	0	0.003610	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284006	43284006	+	RNA	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:43284006C>T	uc001mxe.1	-	1		c.930G>A								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		TCCCAAGTTTCATCAGCACTG	0.473000														11			6		0	0	0.003080	0	0
HRG	3273	broad.mit.edu	37	3	186392940	186392940	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:186392940G>A	uc003fqq.3	+	5	725	c.702G>A	c.(700-702)ccG>ccA	p.P234P		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	234	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGGAAAGCCCGAAAAACCTTG	0.448000														143			68		0	0	0.003610	0	0
SHROOM2	357	broad.mit.edu	37	X	9914785	9914785	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:9914785C>T	uc004csu.1	+	9	4749	c.4659C>T	c.(4657-4659)gaC>gaT	p.D1553D	SHROOM2_uc004csv.2_Silent_p.D387D|SHROOM2_uc011mic.1_Silent_p.D388D|SHROOM2_uc004csw.1_Silent_p.D388D	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1553	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGAACCTGGACCGCCGCGAGC	0.547000														19			84		0	0	0.003610	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5345040G>A	uc001mao.1	-	0	543	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000														24			4		0	0	0.009096	0	0
MLL2	8085	broad.mit.edu	37	19	36213929	36213929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:36213929C>T	uc021usv.1	+	5	2755	c.2755C>T	c.(2755-2757)Ccg>Tcg	p.P919S	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	679	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGAGAGTGTCCCGTCACGGTC	0.647000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				140			93		0	0	0.003610	0	0
SPEG	10290	broad.mit.edu	37	2	220355197	220355197	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220355197C>T	uc010fwg.3	+	36	8988	c.8988C>T	c.(8986-8988)atC>atT	p.I2996I		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2996	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGCCAAGATCGTGCCCTATG	0.672000														292			197		0	0	0.003610	0	0
ZNF365	22891	broad.mit.edu	37	10	64148314	64148314	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:64148314C>T	uc001jmc.2	+	2	1218	c.903C>T	c.(901-903)gtC>gtT	p.V301V	ZNF365_uc001jly.4_Silent_p.V316V|ZNF365_uc001jmb.4_Silent_p.V301V|ZNF365_uc001jlz.4_Silent_p.V301V|ZNF365_uc001jma.4_Non-coding_Transcript	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTGGCTTTGTCCGTGATCTCA	0.572000														63			33		0	0	0.004289	0	0
ZNF616	90317	broad.mit.edu	37	19	52619667	52619667	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:52619667G>T	uc002pym.3	-	3	1033	c.750C>A	c.(748-750)ttC>ttA	p.F250L	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AATTTTTTCTGAAGATCTTGC	0.403000														83			34		2.48696e-23	3.64312e-23	0.003271	1	0
CPXM1	56265	broad.mit.edu	37	20	2778928	2778928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2778928C>T	uc002wgu.3	-	3	534	c.460G>A	c.(460-462)Gag>Aag	p.E154K	CPXM1_uc010gas.3_Missense_Mutation_p.E154K	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	154	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.E154*(2)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCGCCGTCCTCCAGGCCTGAC	0.632000														248			190		0	0	0.003610	0	0
PDLIM2	64236	broad.mit.edu	37	8	22451334	22451335	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:22451334_22451335GG>AA	uc003xby.3	+	9	1759_1760	c.970_971GG>AA	c.(970-972)ggg>AAg	p.G324K	PDLIM2_uc003xca.3_3'UTR|PDLIM2_uc003xcc.2_Missense_Mutation_p.G324K|PDLIM2_uc003xcd.1_3'UTR	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA.	324	LIM zinc-binding.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	p.R323R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GAAGATGCGCGGGCACTTCTGG	0.673000														97			38		0	0	0.004672	0	0
NEU2	4759	broad.mit.edu	37	2	233897453	233897453	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:233897453C>T	uc010zmn.2	+	0	72	c.72C>T	c.(70-72)gcC>gcT	p.A24A		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	24							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GAATCCCTGCCCTGCTCTACC	0.627000														373			221		0	0	0.003610	0	0
ECM1	1893	broad.mit.edu	37	1	150484887	150484887	+	Silent	SNP	C	T	T	rs143543113		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:150484887C>T	uc001euv.3	+	7	1423	c.1224C>T	c.(1222-1224)caC>caT	p.H408H	ECM1_uc001eus.3_Silent_p.H381H|ECM1_uc001eut.3_Silent_p.H256H|ECM1_uc009wlu.3_Silent_p.H141H	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	381					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	p.R407R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCACCACCACTTGTGTTGCC	0.567000														647			207		0	0	0.003610	0	0
ZNF16	7564	broad.mit.edu	37	8	146157959	146157959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:146157959C>T	uc003zet.3	-	3	401	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	ZNF16_uc003zeu.3_Missense_Mutation_p.E72K	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCTTGTCTTCAGTCCTGGTG	0.433000														130			60		0	0	0.003610	0	0
SENP6	26054	broad.mit.edu	37	6	76412655	76412655	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:76412655G>A	uc003pid.4	+	18	3202	c.2583G>A	c.(2581-2583)gtG>gtA	p.V861V	SENP6_uc003pie.4_Silent_p.V854V|SENP6_uc010kbf.3_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	861	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATACAGTGTGAAAAAAATAA	0.353000														27			64		0	0	0.003610	0	0
GYS2	2998	broad.mit.edu	37	12	21727174	21727174	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:21727174C>T	uc001rfb.3	-	3	837	c.582G>A	c.(580-582)agG>agA	p.R194R		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	194					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TAGGAAGTTTCCTGGCTCGAG	0.418000														14			13		0	0	0.001368	0	0
NARG2	79664	broad.mit.edu	37	15	60768358	60768358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:60768358G>A	uc002agp.3	-	2	285	c.50C>T	c.(49-51)tCc>tTc	p.S17F	NARG2_uc002ago.3_5'UTR|NARG2_uc010bgk.3_Missense_Mutation_p.S17F|NARG2_uc002agr.1_Missense_Mutation_p.S17F	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	17						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATTTTTGGGGGAAATATCCCT	0.323000														118			92		0	0	0.003610	0	0
SNRK	54861	broad.mit.edu	37	3	43373670	43373671	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:43373670_43373671GT>AA	uc003cms.4	+	3	931_932	c.599_600GT>AA	c.(598-600)agt>aAA	p.S200K	SNRK_uc003cmt.4_Missense_Mutation_p.S200K|SNRK_uc010hik.3_Missense_Mutation_p.S200K|SNRK_uc011azr.2_5'UTR|SNRK_uc003cmu.3_Missense_Mutation_p.S200K	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	200	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GATATTTGGAGTCTGGGAGTGA	0.351000														74			30		0	0	0.004672	0	0
ALPPL2	251	broad.mit.edu	37	2	233272555	233272555	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:233272555G>A	uc002vss.4	+	5	529	c.476_splice	c.e5-1	p.G159_splice		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	159					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCACCCTCAGGAAAGTCAGTG	0.617000														434			266		0	0	0.003610	0	0
TMEM109	79073	broad.mit.edu	37	11	60689575	60689575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:60689575G>A	uc001nqg.3	+	3	1048	c.670G>A	c.(670-672)Gag>Aag	p.E224K	TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	224						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						ACGCCAGGTGGAGGAGCTGCG	0.687000														111			121		0	0	0.003610	0	0
KIAA1841	84542	broad.mit.edu	37	2	61308617	61308617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:61308617C>T	uc002saw.4	+	6	1004	c.701C>T	c.(700-702)tCt>tTt	p.S234F	KIAA1841_uc002sax.4_Missense_Mutation_p.S88F|KIAA1841_uc002say.3_Missense_Mutation_p.S234F|KIAA1841_uc002sav.4_Missense_Mutation_p.S234F	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	234										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATTCTTATTTCTTCGGAGTTT	0.318000														154			74		0	0	0.003610	0	0
XAGE3	170626	broad.mit.edu	37	X	52893806	52893806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:52893806C>T	uc004dre.3	-	3	371	c.311G>A	c.(310-312)gGa>gAa	p.G104E	XAGE3_uc004drf.3_Missense_Mutation_p.G104E	NM_130776	NP_573440	Q8WTP9	GAGD4_HUMAN	Homo sapiens X antigen family, member 3 (XAGE3), transcript variant 2, mRNA.	104										kidney(1)|large_intestine(1)|lung(2)	4						TAGCATACCTCCTTCTGGCAT	0.368000														38			101		0	0	0.003610	0	0
TEP1	7011	broad.mit.edu	37	14	20841843	20841843	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20841843G>T	uc001vxe.3	-	44	6638	c.6598C>A	c.(6598-6600)Cgt>Agt	p.R2200S	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Missense_Mutation_p.R1543S|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R2092S|TEP1_uc010tlh.1_Missense_Mutation_p.R538S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2200					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTACCTGCACGGGGCTCCATG	0.567000														189			7		8.12818e-05	0.000117814	0.001984	1	0
C1GALT1	56913	broad.mit.edu	37	7	7278205	7278205	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:7278205G>A	uc003srb.2	+	2	763	c.540G>A	c.(538-540)agG>agA	p.R180R	C1GALT1_uc003sra.3_Silent_p.R180R|C1GALT1_uc010kto.2_Silent_p.R180R	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	180					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ACAATTTGAGGTGGCTTCTTT	0.378000														79			59		0	0	0.003610	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486463	76486463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:76486463C>T	uc002fex.1	+	6	1278	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	CNTNAP4_uc002feu.1_Missense_Mutation_p.S376F|CNTNAP4_uc002fev.1_Missense_Mutation_p.S241F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S304F|CNTNAP4_uc002few.2_Missense_Mutation_p.S352F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	377					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTCTGAGCTCCAGGAGTTAT	0.413000														152			99		0	0	0.003610	0	0
UGT2B10	7365	broad.mit.edu	37	4	69874721	69874721	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:69874721G>A	uc011cao.1	-	6	1155	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	UGT2B10_uc011can.1_Silent_p.I259I			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	387					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCACCATAGGGATCCCATGGT	0.423000														13			27		0	0	0.003954	0	0
SYNE1	23345	broad.mit.edu	37	6	152647134	152647134	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:152647134A>G	uc021zhb.1	-	77	15620	c.15397T>C	c.(15397-15399)Tcg>Ccg	p.S5133P	SYNE1_uc003qot.4_Missense_Mutation_p.S5062P|SYNE1_uc003qou.4_Missense_Mutation_p.S5133P|SYNE1_uc010kiz.3_Missense_Mutation_p.S888P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5133					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.T5132S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGACTAGACGAAGTCTTCAAC	0.353000										HNSCC(10;0.0054)				61			72		0	0	0.003610	0	0
HDAC3	8841	broad.mit.edu	37	5	141008152	141008152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:141008152G>A	uc003llf.2	-	7	731	c.665C>T	c.(664-666)cCc>cTc	p.P222L	HDAC3_uc003lle.1_Missense_Mutation_p.P165L	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	222	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	ATCCCGCAGGGGCACGTTCAG	0.537000														103			209		0	0	0.003610	0	0
ACE2	59272	broad.mit.edu	37	X	15582236	15582236	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:15582236G>A	uc004cxa.1	-	16	2388	c.2220C>T	c.(2218-2220)tcC>tcT	p.S740S	ACE2_uc004cxb.2_Silent_p.S740S	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	740					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCAGCCATATGGAAACAGGGG	0.493000														20			46		0	0	0.003610	0	0
ALPL	249	broad.mit.edu	37	1	21894683	21894683	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:21894683G>A	uc001bet.3	+	6	992	c.735G>A	c.(733-735)acG>acA	p.T245T	ALPL_uc010odo.2_Silent_p.T190T|ALPL_uc010odp.2_Silent_p.T168T|ALPL_uc010odn.2_Silent_p.T193T|ALPL_uc001beu.4_Silent_p.T245T	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	245					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCAGGGGCACGAGGCTGGACG	0.552000														398			299		0	0	0.003610	0	0
OR5L1	219437	broad.mit.edu	37	11	55579833	55579833	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55579833G>A	uc001nhw.1	+	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V297V(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATAAAGATGTGAAAGAAGCTC	0.458000														50			42		0	0	0.003214	0	0
ARID1B	57492	broad.mit.edu	37	6	157521970	157521971	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:157521970_157521971GG>AA	uc003qqp.3	+	16	4203_4204	c.4203_4204GG>AA	c.(4201-4206)ccggac>ccAAac	p.D1402N	ARID1B_uc003qqo.3_Missense_Mutation_p.D1415N|ARID1B_uc003qqn.3_Missense_Mutation_p.D1455N	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1402					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTCGGGCCCGGACCGCAGGCC	0.634000														75			109		0	0	0.004672	0	0
C17orf57	124989	broad.mit.edu	37	17	45517911	45517911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:45517911G>A	uc002iln.3	+	24	3184	c.2753G>A	c.(2752-2754)aGg>aAg	p.R918K		NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	918							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GATCTAGAAAGGCAAGCAGTG	0.303000														136			80		0	0	0.003610	0	0
LRIG2	9860	broad.mit.edu	37	1	113661932	113661932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:113661932C>T	uc001edf.1	+	16	2956	c.2758C>T	c.(2758-2760)Cca>Tca	p.P920S	LRIG2_uc009wgn.1_Missense_Mutation_p.P817S	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	920						cytoplasm|integral to membrane|plasma membrane		p.C919R(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGAATACTGTCCATACACCTA	0.448000														237			160		0	0	0.003610	0	0
ADAM28	10863	broad.mit.edu	37	8	24193090	24193090	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:24193090G>A	uc003xdy.3	+	13	1586	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	ADAM28_uc003xdx.3_Silent_p.K501K|ADAM28_uc011kzz.2_Silent_p.K268K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.K188K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	501	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATCACGGGAAGGGCCACTGCT	0.522000														16			9		0	0	0.004482	0	0
TMEM35	59353	broad.mit.edu	37	X	100349860	100349860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:100349860C>T	uc004egw.3	+	1	575	c.419C>T	c.(418-420)tCt>tTt	p.S140F		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	Homo sapiens transmembrane protein 35 (TMEM35), mRNA.	140						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GACCGGTCTTCTGAGAAGAAG	0.542000														107			391		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179664226	179664226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179664226G>A	uc021vsy.1	-	5	1127	c.902C>T	c.(901-903)cCa>cTa	p.P301L	TTN_uc021vsz.1_Missense_Mutation_p.P301L|TTN_uc021vta.1_Missense_Mutation_p.P301L|TTN_uc021vtb.1_Missense_Mutation_p.P301L|TTN_uc002unb.2_Missense_Mutation_p.P301L|TTN_uc002und.3_Missense_Mutation_p.P301L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	301	ZIS1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCGGAGATGGGGTCGGTGC	0.567000														44			20		0	0	0.008871	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404442	61404442	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:61404442G>A	uc001nrz.1	+	4	1046	c.291G>A	c.(289-291)gaG>gaA	p.E97E						Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA.																		ACCTCACTGAGATCAGGGACC	0.582000														78			24		0	0	0.002780	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420303	55420303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:55420303C>T	uc001sgp.4	+	1	458	c.80C>T	c.(79-81)tCc>tTc	p.S27F	NEUROD4_uc021qyr.1_Missense_Mutation_p.S27F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	27					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGTCTGGGCTCCCAAAATGAG	0.453000														36			19		0	0	0.008871	0	0
ABCD2	225	broad.mit.edu	37	12	39973353	39973353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:39973353G>A	uc001rmb.2	-	7	2287	c.1861C>T	c.(1861-1863)Cgt>Tgt	p.R621C		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	621	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.R621L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAAAACATACGAGCCATGCCC	0.358000														134			35		0	0	0.009718	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741113	146741113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:146741113G>A	uc003weu.2	+	3	1033	c.517G>A	c.(517-519)Gga>Aga	p.G173R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	173	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTCGCATTGGACTCAGAAT	0.403000										HNSCC(39;0.1)				84			45		0	0	0.003610	0	0
MID1	4281	broad.mit.edu	37	X	10427726	10427726	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:10427726C>T	uc004cte.4	-	7	1597	c.1407G>A	c.(1405-1407)gcG>gcA	p.A469A	MID1_uc004ctd.4_Silent_p.A180A|MID1_uc004ctg.4_Silent_p.A469A|MID1_uc004cth.4_Silent_p.A431A|MID1_uc004ctk.4_Silent_p.A469A|MID1_uc004ctj.4_Silent_p.A469A|MID1_uc004cti.4_Silent_p.A469A|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004csz.4_Silent_p.A141A|MID1_uc004cta.4_Silent_p.A225A|MID1_uc004ctb.4_Silent_p.A129A|MID1_uc004ctc.4_Silent_p.A236A	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	469	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGCGGCTGCCCGCCTGGTTGA	0.522000														10			43		0	0	0.002522	0	0
CSMD2	114784	broad.mit.edu	37	1	34208909	34208909	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:34208909C>T	uc001bxm.1	-	13	2322	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	CSMD2_uc001bxn.1_Silent_p.G675G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	675	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCCCCTCTTCCCTGTGGAGT	0.592000														35			30		0	0	0.007291	0	0
WASH3P	374666	broad.mit.edu	37	15	102516407	102516407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:102516407C>T	uc002cdi.3	+	10	2153	c.733C>T	c.(733-735)Cct>Tct	p.P245S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						AGACTCCATCCCTCCTCTGCC	0.647000														207			19		0	0	0.007291	0	0
AXIN1	8312	broad.mit.edu	37	16	347065	347065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:347065G>A	uc002cgp.2	-	6	2335	c.1946C>T	c.(1945-1947)aCc>aTc	p.T649I	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.T649I	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	649	Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCCGTGGCCGGTCCTGCGGTG	0.627000														563			363		0	0	0.003610	0	0
SORCS3	22986	broad.mit.edu	37	10	106849544	106849544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:106849544G>A	uc001kyi.1	+	5	1267	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	347						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCGGTGGCCGGATTGGATAAG	0.587000														45			33		0	0	0.004878	0	0
MSTN	2660	broad.mit.edu	37	2	190922180	190922180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:190922180C>T	uc002urp.3	-	2	1065	c.932G>A	c.(931-933)gGa>gAa	p.G311E		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	311					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTCACACTCTCCAGAGCAGTA	0.428000														51			36		0	0	0.002836	0	0
CACNG5	27091	broad.mit.edu	37	17	64880637	64880637	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:64880637C>T	uc010wqi.2	+	4	666	c.429C>T	c.(427-429)ctC>ctT	p.L143L	CACNG5_uc010wqj.2_Silent_p.L143L|CACNG5_uc021uby.1_Non-coding_Transcript	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	143					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AACCAGGCCTCTCTCTCGTGG	0.567000														89			58		0	0	0.003610	0	0
NSMAF	8439	broad.mit.edu	37	8	59499059	59499059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:59499059G>A	uc011lee.2	-	27	2558	c.2497C>T	c.(2497-2499)Cca>Tca	p.P833S	NSMAF_uc003xtt.3_Missense_Mutation_p.P802S	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	802					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GAATGGCATGGAATCTGGTGC	0.388000														84			56		0	0	0.003610	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126317	121126317	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121126317C>T	uc003eec.4	+	23	3027	c.2887C>T	c.(2887-2889)Ctg>Ttg	p.L963L	STXBP5L_uc011bji.2_Silent_p.L939L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	963					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTCTTCTCACTGCCTTCTCA	0.418000														10			14		0	0	0.004007	0	0
GALNT13	114805	broad.mit.edu	37	2	155265592	155265592	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:155265592C>T	uc002tyt.4	+	8	1497	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	GALNT13_uc002tyr.4_Nonsense_Mutation_p.Q465*|GALNT13_uc010foc.1_Nonsense_Mutation_p.Q284*|GALNT13_uc010fod.3_Nonsense_Mutation_p.Q218*	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	465	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GGGAGGAAATCAGGTAAACTC	0.358000														47			16		0	0	0.008871	0	0
ZHX1	11244	broad.mit.edu	37	8	124267642	124267642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:124267642G>A	uc003yqe.3	-	2	1155	c.545C>T	c.(544-546)cCt>cTt	p.P182L	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.P182L|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.P182L|ZHX1_uc022bak.1_Missense_Mutation_p.P182L	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	182					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTCATGATAGGAGTTTTACT	0.343000														197			101		0	0	0.003610	0	0
RHD	6007	broad.mit.edu	37	1	25655547	25655547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:25655547G>A	uc009vro.3	+	8	1460	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	C1orf63_uc021ojj.1_Intron|RHD_uc001bjz.3_3'UTR|RHD_uc001bkc.3_3'UTR|RHD_uc009vrm.3_3'UTR|RHD_uc001bka.3_Missense_Mutation_p.E438K|RHD_uc001bkb.3_3'UTR|RHD_uc009vrn.3_3'UTR|RHD_uc009vrp.3_3'UTR			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	0						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		tggagtcagagaaaatggagt	0.423000														13			54		0	0	0.003610	0	0
PER1	5187	broad.mit.edu	37	17	8049307	8049307	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:8049307G>A	uc002gkd.3	-	16	2425	c.2187C>T	c.(2185-2187)gtC>gtT	p.V729V	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.V713V	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	729	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCCCACATGGACGATGGTGG	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						185			290		0	0	0.003610	0	0
AMBN	258	broad.mit.edu	37	4	71471906	71471906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:71471906G>A	uc003hfl.3	+	12	904	c.803G>A	c.(802-804)gGg>gAg	p.G268E		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	268					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.G268W(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTCCAGGGCGGGAGAGAAGAC	0.493000														18			23		0	0	0.003330	0	0
SPATA2L	124044	broad.mit.edu	37	16	89763814	89763814	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:89763814G>A	uc002foj.3	-	2	1290	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	SPATA2L_uc002fok.3_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	401										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCGCCGCTGGGCGTCGCCAA	0.697000														158			102		0	0	0.003610	0	0
NOD2	64127	broad.mit.edu	37	16	50765666	50765666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:50765666G>A	uc002egm.1	+	11	3164	c.3059G>A	c.(3058-3060)gGg>gAg	p.G1020E	NOD2_uc010vgq.1_Missense_Mutation_p.G65E	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	1020					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGGCTCCGAGGGAACACTTTC	0.483000														179			89		0	0	0.003610	0	0
RIPK2	8767	broad.mit.edu	37	8	90777694	90777694	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:90777694T>A	uc003yee.3	+	2	767	c.453T>A	c.(451-453)aaT>aaA	p.N151K	RIPK2_uc003yef.3_Missense_Mutation_p.N14K	NM_003821	NP_003812	O43353	RIPK2_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 2 (RIPK2), mRNA.	151	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AGACTCAGAATATCTTATTGG	0.313000														239			131		0	0	0.003610	0	0
GRHL1	29841	broad.mit.edu	37	2	10101458	10101458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:10101458C>T	uc002raa.3	+	3	733	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.I24I|GRHL1_uc010yjb.2_Missense_Mutation_p.R37W	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	188					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GGTTTTCGATCGGAATCTCAA	0.547000														321			188		0	0	0.003610	0	0
CDR2L	30850	broad.mit.edu	37	17	72998256	72998256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:72998256G>A	uc002jml.4	+	3	851	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_014603	NP_055418	Q86X02	CDR2L_HUMAN	Homo sapiens cerebellar degeneration-related protein 2-like (CDR2L), mRNA.	147												all_lung(278;0.226)					AGTGCTCCGGGAGAAGCGGGA	0.642000														85			61		0	0	0.003610	0	0
KRBA2	124751	broad.mit.edu	37	17	8272565	8272565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:8272565C>T	uc002glf.1	-	1	1372	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	KRBA2_uc002glg.1_Missense_Mutation_p.E373K	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	456					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCAGCCCTTTCTTCCTGCCTG	0.488000														188			367		0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803417	185803417	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:185803417C>T	uc002uph.3	+	3	3888	c.3294C>T	c.(3292-3294)atC>atT	p.I1098I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1098						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAACCACTATCCATCACACTG	0.532000														84			48		0	0	0.003214	0	0
OR8B2	26595	broad.mit.edu	37	11	124253044	124253044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:124253044G>A	uc010sai.2	-	0	196	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGAAGGAGAGATTGAAGAGG	0.398000														35			26		0	0	0.005443	0	0
RYR1	6261	broad.mit.edu	37	19	39025372	39025372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:39025372G>A	uc002oit.3	+	78	11402	c.11272G>A	c.(11272-11274)Gag>Aag	p.E3758K	RYR1_uc002oiu.3_Missense_Mutation_p.E3753K|RYR1_uc002oiv.1_Missense_Mutation_p.E673K|RYR1_uc010xuf.1_Missense_Mutation_p.E678K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3758					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAACAGATGGAGAAGCAGAG	0.592000														100			65		0	0	0.003610	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577087	158577087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158577087C>T	uc010pio.2	+	0	859	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTCCTTAATCCCATTGTTTA	0.473000														80			70		0	0	0.003610	0	0
GABRE	2564	broad.mit.edu	37	X	151123218	151123218	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:151123218G>T	uc004ffi.3	-	8	1530	c.1476C>A	c.(1474-1476)ttC>ttA	p.F492L	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	492					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGAAGAAGAAAGTCACTG	0.547000														26			31		4.74835e-14	6.93902e-14	0.002096	1	0
KDM5A	5927	broad.mit.edu	37	12	463244	463244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:463244C>T	uc001qif.1	-	7	1390	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	KDM5A_uc010sdn.1_Missense_Mutation_p.E302K|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	343					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACGTGTACCTCGGCGACACAT	0.373000			T	NUP98	AML									66			21		0	0	0.001882	0	0
METTL2B	55798	broad.mit.edu	37	7	128141846	128141846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:128141846G>A	uc003vnf.3	+	8	1050	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	METTL2B_uc003vng.3_Missense_Mutation_p.G273E|METTL2B_uc011kop.2_Missense_Mutation_p.G202E	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	338							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCACTGCTGGACTGGAAAAA	0.448000														204			121		0	0	0.003610	0	0
ROBO3	64221	broad.mit.edu	37	11	124749423	124749423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:124749423C>T	uc001qbc.3	+	24	3917	c.3748C>T	c.(3748-3750)Cgg>Tgg	p.R1250W	ROBO3_uc001qbd.2_Missense_Mutation_p.R175W|ROBO3_uc010sar.2_Missense_Mutation_p.R299W|ROBO3_uc001qbe.3_Missense_Mutation_p.R175W|ROBO3_uc001qbf.1_Missense_Mutation_p.R134W	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1250					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGCTCGATTCCGGAAGAAACC	0.607000														150			41		0	0	0.009718	0	0
LMO7	4008	broad.mit.edu	37	13	76423325	76423325	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:76423325G>T	uc021rkq.1	+	26	4596	c.4261G>T	c.(4261-4263)Gaa>Taa	p.E1421*	LMO7_uc010thv.2_Nonsense_Mutation_p.E1139*|LMO7_uc001vjv.3_Nonsense_Mutation_p.E1188*|LMO7_uc010thw.2_Nonsense_Mutation_p.E1065*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1473						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATCCTTCAGGAAATGAGGAA	0.463000														52			18		6.94344e-10	1.01224e-09	0.006122	1	0
ROBO2	6092	broad.mit.edu	37	3	75986736	75986736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:75986736G>A	uc021xat.1	+	0	92	c.92G>A	c.(91-93)gGg>gAg	p.G31E		NM_001128929	NP_001122401	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 1, mRNA.	0	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGTCATCAGGGGAATGGACAA	0.448000														126			5		0	0	0.001168	0	0
DUOX2	50506	broad.mit.edu	37	15	45398743	45398743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:45398743G>A	uc001zun.3	-	15	2131	c.1928C>T	c.(1927-1929)gCc>gTc	p.A643V	DUOX2_uc010bea.3_Missense_Mutation_p.A643V	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	643					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCCATCTTTGGCTGCTTCCTT	0.552000														598			260		0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50450106	50450106	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:50450106C>T	uc002lfe.2	+	3	1343	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	DCC_uc010xdr.1_Silent_p.L91L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	243	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCTGTATTTTCTGCAAAGACC	0.378000														11			8		0	0	0.006214	0	0
LMO7	4008	broad.mit.edu	37	13	76381957	76381957	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:76381957A>C	uc021rkq.1	+	9	1873	c.1538A>C	c.(1537-1539)gAa>gCa	p.E513A	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.E280A|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.E186A	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	565						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCGGATTTGGAAAAAGATGAT	0.443000														46			35		0	0	0.003755	0	0
SRCAP	10847	broad.mit.edu	37	16	30749203	30749203	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30749203C>T	uc002dze.1	+	33	8227	c.7842C>T	c.(7840-7842)ggC>ggT	p.G2614G	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.G2409G	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2614	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGAGGCTGGCAGCATCCCCA	0.572000														445			284		0	0	0.003610	0	0
C1orf65	164127	broad.mit.edu	37	1	223567632	223567632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:223567632G>A	uc001hoa.2	+	0	918	c.815G>A	c.(814-816)aGg>aAg	p.R272K		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	272										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAGGCCCAGAGGATACGGGAG	0.642000														153			201		0	0	0.003610	0	0
ATP7A	538	broad.mit.edu	37	X	77276522	77276522	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:77276522G>A	uc004ecx.4	+	13	3022	c.2862G>A	c.(2860-2862)ttG>ttA	p.L954L		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	954					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CCACCCTCTTGGTATGGATTG	0.348000														82			267		0	0	0.003610	0	0
NPHS1	4868	broad.mit.edu	37	19	36333054	36333054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:36333054C>T	uc002oby.3	-	18	2791	c.2635G>A	c.(2635-2637)Ggg>Agg	p.G879R	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	879	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAGGGACCCCGTTTTTTGTC	0.617000														130			91		0	0	0.003610	0	0
SAMD7	344658	broad.mit.edu	37	3	169639003	169639003	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:169639003G>A	uc003fgd.3	+	4	354	c.87_splice	c.e4-1	p.R29_splice	SAMD7_uc003fge.3_Splice_Site_p.R29_splice|SAMD7_uc011bpo.2_Splice_Site	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	29										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGTTCTCAGAGATGTATTGCC	0.383000														132			82		0	0	0.003610	0	0
MBNL2	10150	broad.mit.edu	37	13	97995409	97995409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:97995409C>T	uc010aft.3	+	3	1295	c.479C>T	c.(478-480)cCa>cTa	p.P160L	MBNL2_uc001vmz.3_Missense_Mutation_p.P160L|MBNL2_uc001vna.3_Missense_Mutation_p.P160L|MBNL2_uc001vnb.3_Non-coding_Transcript|MBNL2_uc010tij.2_Intron	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 1, mRNA.	160					RNA splicing|mRNA processing|regulation of RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CCCGGAAGTCCACCGGTCACT	0.502000														356			195		0	0	0.003610	0	0
NAALADL1	10004	broad.mit.edu	37	11	64812753	64812753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64812753G>A	uc001ocn.3	-	17	2229	c.2213C>T	c.(2212-2214)gCt>gTt	p.A738V	NAALADL1_uc010rnw.2_Missense_Mutation_p.A214V	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	738					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.A738A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCAGAGGTCAGCCACAGGCCT	0.592000														136			47		0	0	0.003610	0	0
KIAA1751	85452	broad.mit.edu	37	1	1888096	1888096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1888096G>A	uc001aim.1	-	16	2135	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L	KIAA1751_uc009vkz.1_Missense_Mutation_p.P660L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	660										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CATCTCACAGGGCTCTGAAGC	0.592000														221			153		0	0	0.003610	0	0
NRXN1	9378	broad.mit.edu	37	2	50780084	50780084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:50780084C>T	uc021vhh.1	-	7	2321	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	NRXN1_uc002rxb.4_Missense_Mutation_p.G139E|NRXN1_uc021vhg.1_Missense_Mutation_p.G507E|NRXN1_uc021vhi.1_Missense_Mutation_p.G503E|NRXN1_uc021vhj.1_Missense_Mutation_p.G463E|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	467	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCCACCACTCCATGGATCTT	0.408000														245			159		0	0	0.003610	0	0
NPR1	4881	broad.mit.edu	37	1	153653110	153653110	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:153653110C>T	uc001fcs.4	+	1	1276	c.855C>T	c.(853-855)ggC>ggT	p.G285G	NPR1_uc010pdz.2_Silent_p.G31G	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	285					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTGGACAGGGCCCTGCTCCCC	0.607000														473			199		0	0	0.003610	0	0
DOCK6	57572	broad.mit.edu	37	19	11332692	11332692	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11332692A>T	uc002mqs.4	-	27	3426	c.3385T>A	c.(3385-3387)Ttc>Atc	p.F1129I	DOCK6_uc010xlq.2_Missense_Mutation_p.F468I	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1129					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGCAACAGGAATGCCCTATGG	0.607000														192			96		0	0	0.003610	0	0
MYOM1	8736	broad.mit.edu	37	18	3215125	3215125	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:3215125T>G	uc002klp.3	-	1	431	c.97A>C	c.(97-99)Aag>Cag	p.K33Q	MYOM1_uc002klq.3_Missense_Mutation_p.K33Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	33						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGCGTTTCTTCTCCCGCTGG	0.642000														285			104		0	0	0.003610	0	0
IL7	3574	broad.mit.edu	37	8	79710383	79710383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:79710383G>A	uc003ybg.3	-	1	672	c.71C>T	c.(70-72)tCa>tTa	p.S24L	IL7_uc022awh.1_Missense_Mutation_p.S24L|IL7_uc022awi.1_Missense_Mutation_p.S24L|IL7_uc022awj.1_Missense_Mutation_p.S24L|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	24					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	p.A23V(1)		endometrium(2)|large_intestine(2)|lung(1)	5						ACAATCAGATGATGCTACTGG	0.333000														127			73		0	0	0.003610	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186741	47186741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:47186741C>T	uc001rpi.2	-	2	513	c.114G>A	c.(112-114)atG>atA	p.M38I	SLC38A4_uc001rpj.2_Missense_Mutation_p.M38I|SLC38A4_uc009zkl.2_Missense_Mutation_p.M38I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	38					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATACCTGCTCATTGCTGCCT	0.413000														31			16		0	0	0.004007	0	0
PON1	5444	broad.mit.edu	37	7	94928408	94928408	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:94928408G>A	uc003uns.3	-	8	1013	c.916C>T	c.(916-918)Cga>Tga	p.R306*	PON1_uc011kih.2_Nonsense_Mutation_p.R306*	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	306					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.R306Q(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TTCTGGATTCGAAGCACCTGT	0.383000														51			52		0	0	0.003610	0	0
FHDC1	85462	broad.mit.edu	37	4	153897706	153897706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:153897706G>A	uc003inf.2	+	10	3338	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	1088					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACTTTGAGGCGAGCCAGCAGT	0.682000														76			261		0	0	0.003610	0	0
CHUK	1147	broad.mit.edu	37	10	101977836	101977836	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:101977836G>A	uc001kqp.3	-	8	904	c.849C>T	c.(847-849)gaC>gaT	p.D283D		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	283	Protein kinase.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|IkappaB kinase activity|identical protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TCTGCTGAGGGTCCCAATTCA	0.368000														120			75		0	0	0.003610	0	0
PCSK6	5046	broad.mit.edu	37	15	101929707	101929707	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:101929707G>A	uc002bxa.2	-	9	1583	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	PCSK6_uc010bpd.3_Silent_p.P294P|PCSK6_uc002bwy.3_Silent_p.P423P|PCSK6_uc010bpe.3_Silent_p.P420P|PCSK6_uc002bxb.2_Silent_p.P423P|PCSK6_uc002bxc.1_Silent_p.P423P|PCSK6_uc002bxd.1_Silent_p.P423P|PCSK6_uc002bxe.3_Silent_p.P423P|PCSK6_uc002bxg.1_Silent_p.P423P	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	424	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCGCCACCATGGGGGCAGAGA	0.502000														428			225		0	0	0.003610	0	0
UBASH3B	84959	broad.mit.edu	37	11	122647763	122647763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:122647763G>A	uc001pyi.4	+	2	607	c.247G>A	c.(247-249)Gat>Aat	p.D83N		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	83						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCCTTCCTGGATGACCCCCT	0.547000														60			53		0	0	0.003610	0	0
SCN7A	6332	broad.mit.edu	37	2	167304163	167304163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:167304163G>A	uc002udu.2	-	10	1476	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	449					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CACATCCAATGATGTGTCTGT	0.363000														37			23		0	0	0.005443	0	0
PCLO	27445	broad.mit.edu	37	7	82585116	82585116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82585116G>A	uc003uhx.2	-	4	5442	c.5153C>T	c.(5152-5154)tCg>tTg	p.S1718L	PCLO_uc003uhv.2_Missense_Mutation_p.S1718L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1649					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						ATGCAGACTCGAAGATCCCTC	0.458000														29			19		0	0	0.006122	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951033	119951033	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:119951033A>T	uc010inb.3	+	3	1299	c.1103A>T	c.(1102-1104)cAa>cTa	p.Q368L	SYNPO2_uc010ina.3_Missense_Mutation_p.Q368L|SYNPO2_uc003icm.4_Missense_Mutation_p.Q368L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.Q296L|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	368						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAGAAAAACAAGTGAAGGAA	0.433000														120			144		0	0	0.003610	0	0
PTPRN	5798	broad.mit.edu	37	2	220166329	220166329	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:220166329C>T	uc002vkz.3	-	6	1348	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	PTPRN_uc010zlc.2_Silent_p.K279K|PTPRN_uc002vla.3_Silent_p.K369K	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	369					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TTCCTGCACCCTTGGGCAGTA	0.627000														477			322		0	0	0.003610	0	0
LMO7	4008	broad.mit.edu	37	13	76381890	76381890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:76381890G>A	uc021rkq.1	+	9	1806	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.D258N|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.D164N	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	543						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTCTGAGCAAGATGATTCTGT	0.388000														43			20		0	0	0.003954	0	0
PRKCB	5579	broad.mit.edu	37	16	24196444	24196444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:24196444C>T	uc002dmd.3	+	13	1743	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	PRKCB_uc002dme.3_Nonsense_Mutation_p.Q516*	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	516	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AATTGCTTATCAGCCCTATGG	0.433000														85			36		0	0	0.003214	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735289	55735289	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55735289C>T	uc010rit.2	-	0	651	c.651G>A	c.(649-651)ttG>ttA	p.L217L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGACAATTTCAAAATGTTGG	0.393000														40			24		0	0	0.002299	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737461	62737461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:62737461C>T	uc011abt.2	-	0	724	c.724G>A	c.(724-726)Gtg>Atg	p.V242M		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	242						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGGAGCCGCACGGCCCGCAGC	0.667000														174			99		0	0	0.003610	0	0
C11orf41	25758	broad.mit.edu	37	11	33667329	33667329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:33667329C>T	uc021qfs.1	+	15	4740	c.4616C>T	c.(4615-4617)tCc>tTc	p.S1539F		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1539						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TCGGAGACCTCCACACTGAGC	0.602000														557			137		0	0	0.003610	0	0
CERK	64781	broad.mit.edu	37	22	47085936	47085936	+	Silent	SNP	G	A	A	rs145641716		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:47085936G>A	uc003bia.3	-	11	1601	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	CERK_uc010hae.3_Silent_p.S300S	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	498					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.S497C(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGCAGTTCCAGGAGCTGTTGG	0.652000														263			171		0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183129038	183129038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:183129038C>T	uc002uos.3	-	2	289	c.205G>A	c.(205-207)Gat>Aat	p.D69N	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.D69N|PDE1A_uc010zfq.1_Missense_Mutation_p.D69N|PDE1A_uc002uor.3_Missense_Mutation_p.D53N|PDE1A_uc002uov.1_Non-coding_Transcript	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	69					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CTTGTTTCATCGATATAAACT	0.388000														42			8		0	0	0.003080	0	0
MYLK	4638	broad.mit.edu	37	3	123452564	123452564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:123452564C>T	uc003ego.3	-	9	1561	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	MYLK_uc011bjw.2_Missense_Mutation_p.E427K|MYLK_uc003egp.3_Missense_Mutation_p.E427K|MYLK_uc003egq.3_Missense_Mutation_p.E427K|MYLK_uc003egr.3_Missense_Mutation_p.E427K|MYLK_uc003egs.3_Missense_Mutation_p.E251K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	427	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.K426N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTTGATTTTCCTTGACCTCC	0.507000														217			103		0	0	0.003610	0	0
ZNF488	118738	broad.mit.edu	37	10	48371278	48371278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:48371278C>T	uc001jex.3	+	1	908	c.746C>T	c.(745-747)cCc>cTc	p.P249L	ZNF488_uc021ppx.1_Missense_Mutation_p.P249L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	249			P -> S (in dbSNP:rs3814160).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCCCAGGTGCCCCCACCCTCA	0.592000														264			213		0	0	0.003610	0	0
TEX26	122046	broad.mit.edu	37	13	31506856	31506856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:31506856G>A	uc001uti.3	+	0	23	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	TEX26-AS1_uc001utg.2_5'Flank|TEX26-AS1_uc021rht.1_5'Flank	NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	2																	GGGCAGAATGGAACAGCCTGG	0.687000														139			70		0	0	0.003610	0	0
PRKG2	5593	broad.mit.edu	37	4	82126170	82126170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:82126170G>A	uc003hmh.2	-	0	45	c.32C>T	c.(31-33)tCt>tTt	p.S11F	PRKG2_uc011cch.1_Missense_Mutation_p.S11F	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	11					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGGGTGCTTAGAATGTTTAGG	0.498000														51			63		0	0	0.003610	0	0
DGKH	160851	broad.mit.edu	37	13	42769041	42769041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:42769041C>T	uc001uyl.2	+	16	2123	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	DGKH_uc010tfh.2_Missense_Mutation_p.P686S|DGKH_uc001uym.2_Missense_Mutation_p.P686S|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.P441S|DGKH_uc001uyo.2_Missense_Mutation_p.P550S|DGKH_uc010tfj.2_Missense_Mutation_p.P550S|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	686					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACCTCGGTCTCCAGATGCCCG	0.418000														60			34		0	0	0.006230	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064086	1064086	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:1064086C>T	uc003jbu.3	-	19	2678	c.2612G>A	c.(2611-2613)tGg>tAg	p.W871*	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	871					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCACTTCCTCCACACCTGCAG	0.647000														329			61		0	0	0.003610	0	0
KCNC2	3747	broad.mit.edu	37	12	75444548	75444548	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:75444548G>T	uc001sxg.1	-	2	1781	c.1237C>A	c.(1237-1239)Cct>Act	p.P413T	KCNC2_uc009zry.3_Missense_Mutation_p.P413T|KCNC2_uc001sxe.3_Missense_Mutation_p.P413T|KCNC2_uc001sxf.3_Missense_Mutation_p.P413T|KCNC2_uc010stw.1_Missense_Mutation_p.P413T	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	413					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CTAGCTGAAGGGTCGTTAGGT	0.458000														7			9		7.48243e-07	1.08819e-06	0.006214	1	0
PPP1R13B	23368	broad.mit.edu	37	14	104206788	104206788	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:104206788G>A	uc001yof.1	-	11	2248	c.1965C>T	c.(1963-1965)gcC>gcT	p.A655A	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Silent_p.A522A	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	655	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTGCGGGGGCGGCGGGGCCAT	0.647000														557			284		0	0	0.003610	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205613	100205614	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:100205613_100205614CC>TT	uc003uvo.3	+	8	1435_1436	c.1237_1238CC>TT	c.(1237-1239)cct>TTt	p.P413F		NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	413	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGTCCTTCCTCCAGAGAGC	0.564000														473			249		0	0	0.004672	0	0
BC080605	0	broad.mit.edu	37	9	68413573	68413573	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:68413573G>A	uc004aex.3	+	0		c.128G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CAGTGGCGCCGGATCTAGGAA	0.597000														12			3		0	0	0.004672	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816198	23816198	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:23816198T>C	uc003gqs.3	-	7	1028	c.908A>G	c.(907-909)aAa>aGa	p.K303R	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	303	Interaction with PPARG.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGGTTGGCTTTATGAGGAGG	0.413000														43			8		0	0	0.006214	0	0
DNAH8	1769	broad.mit.edu	37	6	38723833	38723833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:38723833G>A	uc021yzh.1	+	9	1602	c.1493G>A	c.(1492-1494)aGa>aAa	p.R498K	DNAH8_uc003ooe.2_Missense_Mutation_p.R281K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCTCAGAGAGAATGACCTCA	0.378000														67			25		0	0	0.004656	0	0
DEAF1	10522	broad.mit.edu	37	11	654029	654029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:654029C>T	uc001lqq.1	-	10	2219	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.R434Q	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	509					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CATAGCCTCCCGGCCGCAGTT	0.627000														163			148		0	0	0.003610	0	0
UNC5B	219699	broad.mit.edu	37	10	73057803	73057803	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:73057803G>A	uc001jro.3	+	15	3079	c.2628G>A	c.(2626-2628)cgG>cgA	p.R876R	UNC5B_uc001jrp.3_Silent_p.R865R	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	876	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.R876W(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCAACTCACGGGGCAATGACT	0.562000														216			95		0	0	0.003610	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965684	102965684	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:102965684G>A	uc002tbu.1	+	9	1534	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	421	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GCATTTATGGGAGAGATATGC	0.418000														150			98		0	0	0.003610	0	0
EPHX2	2053	broad.mit.edu	37	8	27358512	27358512	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:27358512G>A	uc003xfu.3	+	1	252	c.171G>A	c.(169-171)gaG>gaA	p.E57E	EPHX2_uc010lut.1_Silent_p.E57E|EPHX2_uc010luv.3_5'UTR|EPHX2_uc003xfv.3_Silent_p.E4E|EPHX2_uc010luw.3_Intron	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	57	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.E57E(2)|p.G56R(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TGAAAGGAGAGATCACACTTT	0.522000														202			116		0	0	0.003610	0	0
FLT4	2324	broad.mit.edu	37	5	180056259	180056259	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:180056259C>T	uc003mlz.4	-	7	1064	c.985_splice	c.e7+1	p.E329_splice	FLT4_uc003mma.4_Splice_Site_p.E329_splice|FLT4_uc003mmb.1_Splice_Site|FLT4_uc011dgy.2_Splice_Site_p.E329_splice|FLT4_uc011dgz.1_Intron	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	329					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGCCATACCATGCACAATG	0.622000														199			188		0	0	0.003610	0	0
EPHB2	2048	broad.mit.edu	37	1	23233372	23233372	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:23233372G>A	uc009vqj.1	+	10	2203	c.2058G>A	c.(2056-2058)gaG>gaA	p.E686E	EPHB2_uc001bge.3_Silent_p.E687E|EPHB2_uc001bgf.3_Silent_p.E686E|EPHB2_uc010odu.2_Silent_p.E628E	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	686	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCCACCTGGAGGGTGTCGTGA	0.592000														182			86		0	0	0.003610	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787572	73787572	+	Missense_Mutation	SNP	G	A	A	rs148819747		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:73787572G>A	uc011dyh.2	+	4	1227	c.880G>A	c.(880-882)Gag>Aag	p.E294K	KCNQ5_uc003pgj.4_Missense_Mutation_p.E294K|KCNQ5_uc011dyi.2_Missense_Mutation_p.E294K|KCNQ5_uc010kat.3_Missense_Mutation_p.E294K|KCNQ5_uc003pgk.3_Missense_Mutation_p.E294K|KCNQ5_uc011dyj.2_Missense_Mutation_p.E294K|KCNQ5_uc011dyk.2_Missense_Mutation_p.E53K	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	294					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.E294K(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGCCAATAAAGAGTTTTCTAC	0.313000														6			14		0	0	0.003163	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580522	35580522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:35580522C>T	uc001bym.3	+	9	3237	c.3091C>T	c.(3091-3093)Cga>Tga	p.R1031*	ZMYM1_uc001byn.3_Nonsense_Mutation_p.R1031*|ZMYM1_uc010ohu.2_Nonsense_Mutation_p.R1012*|ZMYM1_uc001byo.3_Nonsense_Mutation_p.R671*|ZMYM1_uc009vut.3_Nonsense_Mutation_p.R956*	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	1031						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGATTTTATCGACATTATGC	0.328000														419			240		0	0	0.003610	0	0
CLPS	1208	broad.mit.edu	37	6	35763000	35763000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:35763000C>T	uc003ole.2	-	2	318	c.262G>A	c.(262-264)Gga>Aga	p.G88R	CLPS_uc021yyz.1_Missense_Mutation_p.G74R|CLPS_uc003olf.2_Missense_Mutation_p.G47R	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	88					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GTCTTGTCTCCCTCACAGGTC	0.557000														497			177		0	0	0.003610	0	0
PTCH2	8643	broad.mit.edu	37	1	45295599	45295599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:45295599G>A	uc010olf.2	-	6	929	c.917C>T	c.(916-918)cCc>cTc	p.P306L	PTCH2_uc021omv.1_Missense_Mutation_p.P306L|PTCH2_uc010olg.2_Missense_Mutation_p.P5L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	306					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTCTCCTTGGGGGTCTCTGGC	0.582000									Basal Cell Nevus syndrome					226			155		0	0	0.003610	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231004	2231004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2231004G>A	uc010bsg.1	-	17	2397	c.2365C>T	c.(2365-2367)Cag>Tag	p.Q789*		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	789	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCAAGGGCCTGGGGAGAGCCT	0.711000														190			98		0	0	0.003610	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6532641	6532641	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:6532641C>T	uc001anp.1	-	10	1755	c.1257G>A	c.(1255-1257)tgG>tgA	p.W419*	PLEKHG5_uc001ann.1_Nonsense_Mutation_p.W379*|PLEKHG5_uc001ano.1_Nonsense_Mutation_p.W398*|PLEKHG5_uc001anq.1_Nonsense_Mutation_p.W419*|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Nonsense_Mutation_p.W182*|PLEKHG5_uc010nzr.1_Nonsense_Mutation_p.W411*|PLEKHG5_uc001ank.1_Nonsense_Mutation_p.W342*|PLEKHG5_uc009vmb.1_Nonsense_Mutation_p.W342*|PLEKHG5_uc001anl.1_Nonsense_Mutation_p.W342*|PLEKHG5_uc001anm.1_Nonsense_Mutation_p.W342*	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	398	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGCAGCTCCCACACCGCCT	0.667000														151			92		0	0	0.003610	0	0
C14orf79	122616	broad.mit.edu	37	14	105455377	105455377	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:105455377A>T	uc001ypy.1	+	1	674	c.521A>T	c.(520-522)gAa>gTa	p.E174V	C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript	NM_174891	NP_777551	Q96F83	CN079_HUMAN	Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA.	174										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			CATTTCCTAGAAATAAGCAGT	0.378000														350			221		0	0	0.003610	0	0
SCAMP1	9522	broad.mit.edu	37	5	77712443	77712443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:77712443G>A	uc003kfl.3	+	3	470	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	SCAMP1_uc010jaa.3_Non-coding_Transcript|SCAMP1_uc011ctc.2_Non-coding_Transcript|SCAMP1_uc011ctd.2_Intron	NM_004866	NP_004857	O15126	SCAM1_HUMAN	Homo sapiens secretory carrier membrane protein 1 (SCAMP1), mRNA.	105					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		AGATCGTCGGGAACGAGAAAT	0.343000														6			3		0	0	0.004672	0	0
CFH	3075	broad.mit.edu	37	1	196884135	196884135	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:196884135C>T	uc001gtp.3	+	8	1544	c.1407C>T	c.(1405-1407)acC>acT	p.T469T	CFH_uc021pgt.1_Silent_p.T92T|CFH_uc009wyy.3_Silent_p.T468T|CFH_uc001gto.3_Silent_p.T222T	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	822	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGTGATACCACCTCCTTTC	0.378000														49			54		0	0	0.003610	0	0
PCDH20	64881	broad.mit.edu	37	13	61986316	61986316	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:61986316A>G	uc001vid.4	-	1	2280	c.1916T>C	c.(1915-1917)tTt>tCt	p.F639S	PCDH20_uc010thj.2_Missense_Mutation_p.F639S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	612	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTTGTTGATAAACCGAGGACT	0.458000														399			250		0	0	0.003610	0	0
PRDX2	7001	broad.mit.edu	37	19	12911090	12911090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:12911090C>T	uc002mvd.3	-	3	431	c.281G>A	c.(280-282)gGa>gAa	p.G94E	PRDX2_uc002mve.1_3'UTR	NM_005809	NP_005800	P32119	PRDX2_HUMAN	Homo sapiens peroxiredoxin 2 (PRDX2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	94	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCCAAGCCTCCCTCTTTCCG	0.607000														512			347		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126373919	126373919	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:126373919G>A	uc003ifj.4	+	8	11748	c.11748G>A	c.(11746-11748)caG>caA	p.Q3916Q	FAT4_uc011cgp.2_Silent_p.Q2214Q|FAT4_uc003ifi.1_Silent_p.Q1394Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3916	EGF-like 3; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCATCTGCCAGAATTTTCCAG	0.443000														13			26		0	0	0.004656	0	0
ARAP2	116984	broad.mit.edu	37	4	36230836	36230836	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:36230836C>T	uc003gsq.2	-	1	611	c.273G>A	c.(271-273)aaG>aaA	p.K91K	ARAP2_uc003gsr.1_Silent_p.K91K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	91					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATGGTAATCCTTTGAAGGGT	0.363000														61			69		0	0	0.003610	0	0
ESR2	2100	broad.mit.edu	37	14	64724074	64724074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:64724074C>T	uc001xha.1	-	5	1429	c.961G>A	c.(961-963)Gag>Aag	p.E321K	ESR2_uc001xgy.2_Missense_Mutation_p.E321K|ESR2_uc001xgu.3_Missense_Mutation_p.E321K|ESR2_uc001xgv.3_Missense_Mutation_p.E321K|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Missense_Mutation_p.E321K|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Intron|ESR2_uc001xgz.2_Missense_Mutation_p.E321K|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	321	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGGCTGAGCTCCACAAAGCCT	0.557000														337			165		0	0	0.003610	0	0
LRRC34	151827	broad.mit.edu	37	3	169521924	169521924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:169521924C>T	uc003ffy.3	-	5	812	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	LRRC34_uc003ffx.3_Missense_Mutation_p.E192K|LRRC34_uc003fga.4_Missense_Mutation_p.E131K|LRRC34_uc021xhd.1_Missense_Mutation_p.E192K	NM_001172779	NP_001166250	Q8IZ02	LRC34_HUMAN	Homo sapiens leucine rich repeat containing 34 (LRRC34), transcript variant 2, mRNA.	179										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCTTTATTTTCAATTTTGTTT	0.303000														127			84		0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945032	43945032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:43945032G>A	uc010skx.2	-	1	133	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	45						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCCGCTCGGGGATCACTACT	0.577000														195			174		0	0	0.003610	0	0
STRN	6801	broad.mit.edu	37	2	37105106	37105106	+	Silent	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:37105106A>T	uc002rpn.3	-	9	1260	c.1251T>A	c.(1249-1251)ctT>ctA	p.L417L	STRN_uc010ezx.3_Silent_p.L380L	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	417					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.L417I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GTTCACTTTCAAGGGCTTCAT	0.413000														387			224		0	0	0.003610	0	0
PYGM	5837	broad.mit.edu	37	11	64519430	64519430	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64519430G>A	uc001oax.4	-	13	2551	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L	PYGM_uc001oay.4_Silent_p.L490L	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	578					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGCAGTTGAGGAGCTGTCGTT	0.512000														451			154		0	0	0.003610	0	0
ZNF174	7727	broad.mit.edu	37	16	3454643	3454643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:3454643G>A	uc002cvc.3	+	1	1435	c.620G>A	c.(619-621)gGg>gAg	p.G207E	ZNF174_uc002cva.2_Missense_Mutation_p.G207E|ZNF174_uc002cvb.3_Missense_Mutation_p.G207E	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	207					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AAATTGGCTGGGACAGGTAAA	0.517000														283			177		0	0	0.003610	0	0
EPHA7	2045	broad.mit.edu	37	6	93979364	93979364	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:93979364C>T	uc003poe.3	-	6	1705	c.1464G>A	c.(1462-1464)cgG>cgA	p.R488R	EPHA7_uc003pof.3_Silent_p.R488R|EPHA7_uc011eac.2_Silent_p.R488R	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	488	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGAGTAGGTCCGTTCCCTTT	0.368000														38			65		0	0	0.003610	0	0
TRMT112	51504	broad.mit.edu	37	11	64084949	64084949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64084949C>T	uc001nzt.3	-	0	85	c.50G>A	c.(49-51)gGg>gAg	p.G17E	PRDX5_uc001nzu.3_5'Flank|PRDX5_uc001nzv.3_5'Flank|PRDX5_uc001nzw.3_5'Flank	NM_016404	NP_057488	Q9UI30	TR112_HUMAN	Homo sapiens tRNA methyltransferase 11-2 homolog (S. cerevisiae) (TRMT112), mRNA.	17	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity			large_intestine(1)|upper_aerodigestive_tract(1)	2						GCCACGGGACCCCACCCCCCG	0.652000														105			30		0	0	0.008361	0	0
OR5K1	26339	broad.mit.edu	37	3	98189178	98189178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:98189178G>A	uc003dsm.3	+	0	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTATTCTATGGATCTCTTTTC	0.333000														24			28		0	0	0.006320	0	0
FRAS1	80144	broad.mit.edu	37	4	79173606	79173606	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:79173606C>T	uc003hlb.2	+	4	810	c.370C>T	c.(370-372)Cga>Tga	p.R124*	FRAS1_uc003hkw.3_Nonsense_Mutation_p.R124*|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	124	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R124Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGGGAAGTCCGATGTACCCC	0.537000														42			17		0	0	0.004007	0	0
GJA10	84694	broad.mit.edu	37	6	90605577	90605577	+	Missense_Mutation	SNP	G	A	A	rs140533217	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:90605577G>A	uc011eaa.2	+	0	1390	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	464					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCCTCACTGGGAAAACAGCCC	0.502000														161			227		0	0	0.003610	0	0
ACSL6	23305	broad.mit.edu	37	5	131303687	131303687	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:131303687G>A	uc003kvx.2	-	15	1651	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Silent_p.I479I|ACSL6_uc003kvy.2_Silent_p.I514I|ACSL6_uc003kvz.2_Silent_p.I414I|ACSL6_uc021ydh.1_Silent_p.I414I|ACSL6_uc010jdo.2_Silent_p.I489I|ACSL6_uc003kwa.2_Silent_p.I500I|ACSL6_uc003kvw.2_Silent_p.I135I|ACSL6_uc010jdn.2_Silent_p.I504I	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	489					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAACGAGCTTGATATGATTGC	0.488000														63			79		0	0	0.003610	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955414	18955414	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:18955414C>T	uc001mpg.3	-	0	1136	c.918G>A	c.(916-918)ggG>ggA	p.G306G		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	306					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGGAAGCTGCCCTCCACCTT	0.567000														101			99		0	0	0.003610	0	0
CD163	9332	broad.mit.edu	37	12	7651770	7651770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:7651770C>T	uc001qsz.3	-	3	600	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	CD163_uc001qta.3_Missense_Mutation_p.E158K|CD163_uc009zfw.2_Missense_Mutation_p.E158K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	158					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.E158Q(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGCCTCATTTCCAAATTGGAT	0.413000														69			20		0	0	0.001882	0	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:7576897G>A	uc002gim.2	-	8	1143	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.Q317*|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Nonsense_Mutation_p.Q185*|TP53_uc010cnf.1_Nonsense_Mutation_p.Q185*|TP53_uc002gii.1_Nonsense_Mutation_p.Q185*|TP53_uc010cni.1_Nonsense_Mutation_p.Q317*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q317*|TP53_uc002gij.2_Nonsense_Mutation_p.Q317*|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.	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(53)|p.0?(8)|p.Q317K(6)|p.P316P(2)|p.Q317fs*28(2)|p.Q317R(2)|p.Q317fs*45(2)|p.Q317fs*19(2)|p.S315fs*22(1)|p.?(1)|p.Q317fs*?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.P316fs*21(1)|p.P316L(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)		TTCTTTGGCTGGGGAGAGGAG	0.473000		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)				115			210		0	0	0.003610	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025701	50025701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:50025701C>T	uc001rur.1	+	2	284	c.221C>T	c.(220-222)aCc>aTc	p.T74I	PRPF40B_uc001rup.1_Missense_Mutation_p.T96I|PRPF40B_uc001ruq.1_Missense_Mutation_p.T68I|PRPF40B_uc001rus.1_Missense_Mutation_p.T17I	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	74					RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTGCCTGTCACCGCAGCGGTA	0.547000														376			283		0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41581085	41581085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:41581085C>T	uc003xok.3	-	7	862	c.778G>A	c.(778-780)Gat>Aat	p.D260N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D260N|ANK1_uc003xoj.3_Missense_Mutation_p.D260N|ANK1_uc003xol.3_Missense_Mutation_p.D260N|ANK1_uc003xom.3_Missense_Mutation_p.D293N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	260	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTCCCCGATCCAGCAGCAGC	0.652000														497			250		0	0	0.003610	0	0
APITD1-CORT	100526739	broad.mit.edu	37	1	10500419	10500419	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:10500419C>T	uc001arf.3	+	3	641	c.225C>T	c.(223-225)acC>acT	p.T75T	APITD1-CORT_uc001are.3_Silent_p.T75T|APITD1-CORT_uc021ogd.1_Intron|APITD1-CORT_uc021oge.1_Non-coding_Transcript|APITD1-CORT_uc021ogf.1_Silent_p.T54T|APITD1-CORT_uc021ogg.1_Non-coding_Transcript	NM_198544	NP_940946	Q8N2Z9	CENPS_HUMAN	Homo sapiens APITD1-CORT readthrough (APITD1-CORT), transcript variant 1, mRNA.	75					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	Fanconi anaemia nuclear complex|chromosome, centromeric region|cytosol	DNA binding|chromatin binding|protein binding										CGAAAAGAACCACAATTAACA	0.408000														263			110		0	0	0.003610	0	0
GLI2	2736	broad.mit.edu	37	2	121748112	121748112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:121748112C>T	uc010flp.3	+	12	4652	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.S1213F|GLI2_uc002tmu.4_Missense_Mutation_p.S1196F	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1541					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCCAGAACTCCTCCCGCCTC	0.612000														510			293		0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11573027	11573027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:11573027G>A	uc002gne.3	+	16	3337	c.3269G>A	c.(3268-3270)cGa>cAa	p.R1090Q	DNAH9_uc010coo.3_Missense_Mutation_p.R384Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1090	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATTGATATTCGACCCTTTAAG	0.443000														90			97		0	0	0.003610	0	0
C1orf49	84066	broad.mit.edu	37	1	178491476	178491476	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:178491476G>A	uc001glt.2	+	8	715	c.603G>A	c.(601-603)gaG>gaA	p.E201E	C1orf49_uc001glu.1_3'UTR|C1orf49_uc021pfe.1_Intron|C1orf49_uc001glw.2_Intron|C1orf49_uc001glv.1_Intron	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	201						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						ttccttcagaggcctcaggcc	0.582000														62			26		0	0	0.006320	0	0
MYO16	23026	broad.mit.edu	37	13	109318403	109318403	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:109318403C>T	uc010agk.2	+	1	820	c.198C>T	c.(196-198)ttC>ttT	p.F66F	MYO16_uc001vqt.1_Silent_p.F44F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	44					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGGAAGGGTTCCTGAAAAGGC	0.502000														30			12		0	0	0.000978	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	132298	132298	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrGL000209.1:132298C>T	uc002quo.2	+	1	58	c.39C>T	c.(37-39)ttC>ttT	p.F13F	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc010evk.1_Silent_p.F13F|KIR2DL2_uc010evl.1_Silent_p.F13F|KIR2DL2_uc002qun.2_Silent_p.F13F	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	13					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTCCAGGGTTCTTCTTGCTGC	0.552000														368			158		0	0	0.003610	0	0
SPAG6	9576	broad.mit.edu	37	10	22676824	22676824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:22676824G>A	uc001iri.3	+	5	918	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SPAG6_uc010qct.2_Missense_Mutation_p.E226K|SPAG6_uc009xkh.3_Missense_Mutation_p.E229K|SPAG6_uc001irj.3_Missense_Mutation_p.E251K|SPAG6_uc021poe.1_Intron	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	251					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGTTGAAGCAGAGATTTTTCC	0.383000														27			15		0	0	0.002450	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386417	41386418	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41386417_41386418CC>TT	uc002opm.3	-	2	1001_1002	c.459_460GG>AA	c.(457-462)tcgggc>tcAAgc	p.G154S	CYP2A7_uc002opo.3_Missense_Mutation_p.G154S|CYP2A7_uc002opn.3_Missense_Mutation_p.G103S	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	154						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.S153A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGAGGAAGCCCGACTCCTCCT	0.673000														345			110		0	0	0.004672	0	0
OR4D1	26689	broad.mit.edu	37	17	56232598	56232598	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:56232598C>T	uc010wno.2	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTCCTGTTCCTTCTGTTCC	0.468000														589			368		0	0	0.003610	0	0
GCFC2	6936	broad.mit.edu	37	2	75933774	75933774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:75933774G>A	uc002sno.3	-	1	399	c.269C>T	c.(268-270)tCc>tTc	p.S90F	GCFC2_uc002snn.3_5'UTR|GCFC2_uc010fft.3_5'UTR|GCFC2_uc002snp.4_Missense_Mutation_p.S90F	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	90					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										AAGGGTTCTGGATTCTAACAG	0.343000														333			202		0	0	0.003610	0	0
HERC1	8925	broad.mit.edu	37	15	64015516	64015516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:64015516C>T	uc002amp.3	-	18	3755	c.3607G>A	c.(3607-3609)Gga>Aga	p.G1203R	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1203					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTTCATTTCCAGAAAGTGCT	0.363000														10			6		0	0	0.001984	0	0
XKR4	114786	broad.mit.edu	37	8	56436754	56436754	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:56436754C>T	uc003xsf.3	+	2	1953	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	641						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCCCTTATTCAGGAGCGGTT	0.483000														134			82		0	0	0.003610	0	0
LRP1	4035	broad.mit.edu	37	12	57548035	57548035	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:57548035T>G	uc001snd.3	+	6	1352	c.886T>G	c.(886-888)Ttt>Gtt	p.F296V	LRP1_uc001snc.1_Missense_Mutation_p.F296V	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	296					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAACTTCTACTTTGTGGATGA	0.512000														529			135		0	0	0.003610	0	0
CES2	8824	broad.mit.edu	37	16	66969505	66969505	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:66969505C>T	uc002eqr.3	+	0	1159	c.159C>T	c.(157-159)gtC>gtT	p.V53V	CES2_uc002eqq.3_Silent_p.V53V|CES2_uc002eqs.3_5'UTR|FAM96B_uc021tjy.1_5'Flank	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	0					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGCAGCGTGTCCGCCGGCAGC	0.672000														582			341		0	0	0.003610	0	0
ST13P4	145165	broad.mit.edu	37	13	50746252	50746252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:50746252C>T	uc001vej.3	+	0	99	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	BCMS_uc010adl.1_Intron|BCMS_uc001vee.1_Intron|BCMS_uc010adm.1_Intron|BCMS_uc010adn.1_Intron|BCMS_uc001vef.1_Intron|BCMS_uc001veg.1_Intron|BCMS_uc010tgn.1_Intron|BCMS_uc001vei.1_Intron|BCMS_uc010ado.1_Intron|BCMS_uc010adp.1_Intron					Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4 (ST13P4), non-coding RNA.																		GAACGAGCTTCGGGCCTTTGT	0.617000														169			89		0	0	0.003610	0	0
CCDC74B	91409	broad.mit.edu	37	2	130898785	130898785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:130898785G>A	uc010yzw.1	-	2	1679	c.935C>T	c.(934-936)cCc>cTc	p.P312L	CCDC74B_uc002tqm.1_Missense_Mutation_p.P210L|CCDC74B_uc002tqn.1_Missense_Mutation_p.P144L			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	210										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTGAAGTAGGGGCTCCTCTTC	0.602000														500			158		0	0	0.003610	0	0
GZMM	3004	broad.mit.edu	37	19	549174	549174	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:549174G>C	uc002low.1	+	3	646	c.601G>C	c.(601-603)Gct>Cct	p.A201P		NM_005317	NP_005308	P51124	GRAM_HUMAN	Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.	201	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGACCAGGCTCCCTGCAA	0.711000														71			47		0	0	0.003610	0	0
SHD	56961	broad.mit.edu	37	19	4288335	4288335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:4288335C>T	uc002lzw.2	+	4	2275	c.812C>T	c.(811-813)cCc>cTc	p.P271L		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	271	SH2.							p.N270S(1)|p.P271P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGACCAACCCCCAGGACTGC	0.577000														123			104		0	0	0.003610	0	0
VPS18	57617	broad.mit.edu	37	15	41195020	41195020	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:41195020C>T	uc001zne.3	+	4	2742	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	801					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCGACCACTTCAAGGAGGCGA	0.567000														276			192		0	0	0.003610	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396178	1396178	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1396178C>T	uc001aft.2	+	9	1856	c.861C>T	c.(859-861)gcC>gcT	p.A287A		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	287							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGACTGGGCCATCAATGCCT	0.622000														100			71		0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52547982	52547982	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52547982C>T	uc003dej.3	+	31	3506	c.3432C>T	c.(3430-3432)ttC>ttT	p.F1144F		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1144	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCAGCCTCTTCCGGGAATTGC	0.657000														490			342		0	0	0.003610	0	0
ZNF236	7776	broad.mit.edu	37	18	74631830	74631830	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:74631830T>C	uc002lmi.3	+	19	3565	c.3367T>C	c.(3367-3369)Tta>Cta	p.L1123L	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1123					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACAGCCCAGTTAGCCAAGAT	0.552000														158			93		0	0	0.003610	0	0
SMURF1	57154	broad.mit.edu	37	7	98643359	98643359	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:98643359G>A	uc003upu.2	-	11	1636	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	SMURF1_uc003upv.2_Silent_p.F406F|SMURF1_uc003upt.3_Silent_p.F406F	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	432	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	I-SMAD binding|R-SMAD binding|activin binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CTTCCCCACGGAATTTCACCA	0.468000														331			167		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9049457	9049457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9049457G>A	uc002mkp.3	-	4	32378	c.32174C>T	c.(32173-32175)cCa>cTa	p.P10725L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10727	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCATAATTGGAATAGCTGA	0.443000														187			101		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661843	54661843	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:54661843C>T	uc003dhf.3	+	9	1041	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.F237F|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.F65F	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	331	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.F331F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACAAACTTTTCGCCAAAGGAA	0.413000														82			34		0	0	0.004878	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833960	101833960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:101833960G>A	uc001pgm.3	+	5	2464	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	KIAA1377_uc001pgn.3_Missense_Mutation_p.E688K|KIAA1377_uc010run.2_Missense_Mutation_p.E533K|KIAA1377_uc009yxa.1_Missense_Mutation_p.E533K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	732							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTCAAAAAAAGAAGAAAGTAA	0.378000														19			4		0	0	0.000602	0	0
TC2N	123036	broad.mit.edu	37	14	92258712	92258712	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:92258712G>A	uc001xzu.4	-	9	1238	c.1047_splice	c.e9+1	p.S349_splice	TC2N_uc001xzt.4_Splice_Site_p.S349_splice|TC2N_uc010auc.3_Intron|TC2N_uc001xzv.4_Splice_Site_p.S349_splice	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	349						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATCGCTTACAGAAATTTTTGA	0.358000														182			87		0	0	0.003610	0	0
COL11A2	1302	broad.mit.edu	37	6	33146224	33146224	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:33146224C>T	uc003ocx.1	-	18	1989	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Silent_p.E501E|COL11A2_uc003ocz.1_Silent_p.E480E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	587	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCTCTCCATCCTCACCAGGGG	0.592000														537			347		0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144945398	144945398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:144945398G>A	uc003zaa.1	-	0	2037	c.2024C>T	c.(2023-2025)cCt>cTt	p.P675L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	675						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAACACATCAGGCCCAATGAC	0.592000														221			136		0	0	0.003610	0	0
SCN7A	6332	broad.mit.edu	37	2	167327137	167327137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:167327137G>A	uc002udu.2	-	5	782	c.652C>T	c.(652-654)Cct>Tct	p.P218S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	218					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGATTTAAAGGAATAATTTTT	0.323000														20			11		0	0	0.001368	0	0
TMEM182	130827	broad.mit.edu	37	2	103414377	103414377	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:103414377C>T	uc010fjb.3	+	3	574	c.387C>T	c.(385-387)atC>atT	p.I129I	TMEM182_uc002tcc.4_Silent_p.I86I|TMEM182_uc002tcd.4_Silent_p.I33I|TMEM182_uc010ywe.2_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	129						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTGTAGTCATCGCAAGCTTTT	0.498000														207			131		0	0	0.003610	0	0
LOC399815	399815	broad.mit.edu	37	10	124647793	124647793	+	Silent	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124647793T>A	uc001lgu.3	+	6	1060	c.162T>A	c.(160-162)atT>atA	p.I54I	LOC399815_uc010qua.1_Silent_p.I16I					Homo sapiens chromosome 10 open reading frame 88 pseudogene (LOC399815), non-coding RNA.																		AGAATTGTATTCCTATTGAAG	0.363000														42			23		0	0	0.003954	0	0
CACNG8	59283	broad.mit.edu	37	19	54466543	54466543	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:54466543C>T	uc002qcs.2	+	0	254	c.147C>T	c.(145-147)gcC>gcT	p.A49A		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	49					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R48R(1)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		ACACGCGCGCCCTCATCTGCA	0.706000														204			128		0	0	0.003610	0	0
PYHIN1	149628	broad.mit.edu	37	1	158946490	158946490	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158946490G>A	uc001ftb.3	+	9	1735	c.1485_splice	c.e9-1		PYHIN1_uc001ftc.3_Splice_Site|PYHIN1_uc001ftd.3_Splice_Site_p.V454_splice|PYHIN1_uc001fte.3_Splice_Site_p.V445_splice	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.						cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TATGCTTCAAGGTCACCAAGG	0.413000														24			20		0	0	0.003330	0	0
CELF4	56853	broad.mit.edu	37	18	34901826	34901826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:34901826C>T	uc002lae.2	-	2	784	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	CELF4_uc021uix.1_Missense_Mutation_p.V130M|CELF4_uc021uiy.1_Missense_Mutation_p.V130M|CELF4_uc002lag.2_Missense_Mutation_p.V130M|CELF4_uc002laf.2_Missense_Mutation_p.V126M|CELF4_uc002lai.2_Missense_Mutation_p.V126M	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	130	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCAGGCTTCACCTGGATCGGC	0.647000											OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		131			108		0	0	0.003610	0	0
TTBK1	84630	broad.mit.edu	37	6	43230740	43230740	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:43230740C>T	uc003ouq.1	+	12	1917	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	TTBK1_uc011dvg.1_Silent_p.I69I	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	546						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGTCATCATCGACAAGGAGA	0.647000														140			68		0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121238917	121238917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:121238917G>A	uc003yox.3	+	15	2181	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N	COL14A1_uc003yoy.3_Missense_Mutation_p.S317N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	639	Fibronectin type-III 5.				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)			ACGACAGACAGTTTTAGGGTG	0.473000														21			11		0	0	0.001855	0	0
SLC36A3	285641	broad.mit.edu	37	5	150672984	150672984	+	Silent	SNP	C	T	T	rs148484556	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:150672984C>T	uc003ltx.2	-	3	764	c.345G>A	c.(343-345)acG>acA	p.T115T	SLC36A3_uc003ltv.2_Silent_p.T59T|SLC36A3_uc003ltw.2_Silent_p.T115T	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	115						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCGTACATCGTGGCCTCTC	0.438000														17			19		0	0	0.003330	0	0
KIDINS220	57498	broad.mit.edu	37	2	8873729	8873729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:8873729G>A	uc002qzc.2	-	28	4080	c.3898C>T	c.(3898-3900)Ccg>Tcg	p.P1300S	KIDINS220_uc010yiv.1_Missense_Mutation_p.P1009S|KIDINS220_uc002qzd.2_Missense_Mutation_p.P1201S|KIDINS220_uc002qzb.2_Missense_Mutation_p.P154S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1300					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCACCGTGCGGGGCTGGGCCA	0.567000														244			147		0	0	0.003610	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739586	15739586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:15739586C>T	uc002nbi.3	+	12	1391	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	CYP4F8_uc010xoj.2_Missense_Mutation_p.R256C	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	444					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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGACCCCTTCCGCTTCGACCC	0.597000														335			152		0	0	0.003610	0	0
CASP9	842	broad.mit.edu	37	1	15821896	15821896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:15821896G>A	uc001awn.3	-	6	1165	c.920C>T	c.(919-921)tCc>tTc	p.S307F	CASP9_uc001awm.2_Missense_Mutation_p.S307F|CASP9_uc001awo.3_Missense_Mutation_p.S157F|CASP9_uc001awp.3_Missense_Mutation_p.S151F|CASP9_uc009voi.3_Missense_Mutation_p.S151F|CASP9_uc010obm.2_Missense_Mutation_p.S224F	NM_001229	NP_127463	P55211	CASP9_HUMAN	Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.	307					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ACTGCCAGGGGACTCGTCTTC	0.542000														51			30		0	0	0.007291	0	0
AP1G1	164	broad.mit.edu	37	16	71772996	71772996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:71772996G>A	uc010cgg.3	-	20	2431	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	AP1G1_uc021tkz.1_Missense_Mutation_p.S494F|AP1G1_uc002fbb.3_Missense_Mutation_p.S729F|AP1G1_uc002faz.3_Missense_Mutation_p.S123F|AP1G1_uc021tky.1_Missense_Mutation_p.S709F	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	706	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGCTGTGATGGAGGGGATGCC	0.398000														302			173		0	0	0.003610	0	0
AQP9	366	broad.mit.edu	37	15	58467154	58467154	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:58467154C>T	uc002aez.2	+	3	771	c.414C>T	c.(412-414)atC>atT	p.I138I	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Silent_p.I73I	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	138					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AACTGCTGATCGTGGGAGAAA	0.458000														52			26		0	0	0.004656	0	0
CASR	846	broad.mit.edu	37	3	122003539	122003540	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122003539_122003540CC>TT	uc003eew.4	+	6	3206_3207	c.2768_2769CC>TT	c.(2767-2769)tcc>tTT	p.S923F	CASR_uc003eev.4_Missense_Mutation_p.S913F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	913					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.P923L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCCTCCTCCTCCATCAGCAGCA	0.663000														169			92		0	0	0.004672	0	0
C9orf3	84909	broad.mit.edu	37	9	97823036	97823036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:97823036C>T	uc004ava.3	+	12	2311	c.2176C>T	c.(2176-2178)Ccc>Tcc	p.P726S	C9orf3_uc004auy.3_Missense_Mutation_p.P627S|C9orf3_uc004auz.1_Missense_Mutation_p.P627S|C9orf3_uc011luj.2_Missense_Mutation_p.P88S|C9orf3_uc011luk.2_Missense_Mutation_p.P67S	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	726					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GACTCTGAGCCCCCGAACTCT	0.517000														106			120		0	0	0.003610	0	0
CTAGE9	643854	broad.mit.edu	37	6	132029987	132029987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:132029987G>A	uc011ece.2	-	0	2171	c.2171C>T	c.(2170-2172)cCt>cTt	p.P724L	ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	Homo sapiens CTAGE family, member 9 (CTAGE9), mRNA.	724	Pro-rich.					integral to membrane				endometrium(1)|lung(1)	2						TCCTGGAGGAGGTGGGGGGAA	0.512000														294			256		0	0	0.003610	0	0
MYOM1	8736	broad.mit.edu	37	18	3116369	3116369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:3116369C>T	uc002klp.3	-	20	3597	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	MYOM1_uc002klq.3_Missense_Mutation_p.R992Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1088	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGCCCTCGCCACTGGTC	0.522000														36			24		0	0	0.005443	0	0
PSMD7	5713	broad.mit.edu	37	16	74330842	74330842	+	Silent	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:74330842G>C	uc002fcq.3	+	0	170	c.30G>C	c.(28-30)gtG>gtC	p.V10V	PSMD7_uc010vmr.2_5'UTR	NM_002811	NP_002802	P51665	PSD7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (PSMD7), mRNA.	10	MPN.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						AGAAGGTGGTGGTCCACCCCC	0.682000														231			137		0	0	0.003610	0	0
NLRP9	338321	broad.mit.edu	37	19	56243633	56243633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:56243633C>T	uc002qly.3	-	1	1592	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	522						cytoplasm	ATP binding	p.E522K(2)|p.Q521Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGGTTATTTCCTGCTTTAGG	0.413000														213			106		0	0	0.003610	0	0
DAAM2	23500	broad.mit.edu	37	6	39846280	39846280	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:39846280G>A	uc003oow.3	+	12	1600	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	DAAM2_uc010jxc.3_Silent_p.K487K|DAAM2_uc003oox.3_Silent_p.K487K	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	487					actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACAAAATGAAGGACAAGCTGG	0.567000														21			12		0	0	0.000978	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847717	43847717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:43847717G>A	uc010skx.2	-	11	1753	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	585	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TACTCAGGACGATTACAGCGC	0.418000														7			9		0	0	0.004482	0	0
BRPF3	27154	broad.mit.edu	37	6	36196743	36196743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:36196743C>T	uc003olv.4	+	11	3568	c.3344C>T	c.(3343-3345)cCg>cTg	p.P1115L	BRPF3_uc010jwb.3_Missense_Mutation_p.P845L|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Intron|BRPF3_uc011dtk.2_Missense_Mutation_p.P781L|BRPF3_uc010jwd.3_Missense_Mutation_p.P17L	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1115	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding	p.P1115Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTGTCCCCCCGCTGGACGTG	0.582000														187			71		0	0	0.003610	0	0
IRAK2	3656	broad.mit.edu	37	3	10280488	10280489	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:10280488_10280489CC>TT	uc003bve.1	+	11	1606_1607	c.1530_1531CC>TT	c.(1528-1533)ctccct>ctTTct	p.P511S		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	511					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGACGTTGCTCCCTTGGAGTGG	0.559000														486			336		0	0	0.004672	0	0
SNAP47	116841	broad.mit.edu	37	1	227968362	227968362	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:227968362G>A	uc001hrf.2	+	4	1797	c.1383G>A	c.(1381-1383)aaG>aaA	p.K461K	SNAP47_uc001hra.2_Silent_p.K219K	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	461	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGCGGATGAAGAGGCTGACCT	0.622000														602			159		0	0	0.003610	0	0
PDE6A	5145	broad.mit.edu	37	5	149264377	149264377	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:149264377T>A	uc003lrg.4	-	14	2012	c.1892A>T	c.(1891-1893)cAc>cTc	p.H631L	PDE6A_uc021yfs.1_Missense_Mutation_p.H550L	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	631					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAACTCCAAGTGGTGTCTTTC	0.507000														32			75		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100676654	100676654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:100676654C>T	uc003uxp.1	+	2	2010	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	653	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTCCTGTTGACTC	0.483000														589			326		0	0	0.003610	0	0
ZNF80	7634	broad.mit.edu	37	3	113955906	113955906	+	Missense_Mutation	SNP	C	T	T	rs150485238	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:113955906C>T	uc010hqo.3	-	0	520	c.16G>A	c.(16-18)Gat>Aat	p.D6N	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	6						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D6N(2)|p.R5>?(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CCCAACCCATCGCGTTTAGGG	0.537000														489			277		0	0	0.003610	0	0
CNTN5	53942	broad.mit.edu	37	11	99690324	99690324	+	Silent	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:99690324A>G	uc001pga.3	+	3	609	c.105A>G	c.(103-105)ttA>ttG	p.L35L	CNTN5_uc009ywv.2_Silent_p.L35L|CNTN5_uc001pfz.3_Silent_p.L35L|CNTN5_uc021qpb.1_Silent_p.L35L|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	35					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)		CTGCTTTGTTAAGAATTAAGA	0.368000														309			116		0	0	0.003610	0	0
PARD6G	84552	broad.mit.edu	37	18	77917846	77917847	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:77917846_77917847GG>AA	uc002lny.3	-	2	1104_1105	c.938_939CC>TT	c.(937-939)ccc>cTT	p.P313L	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfo.2_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog gamma (C. elegans) (PARD6G), mRNA.	313					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CCGGGGTCTGGGGGGGACGTGC	0.748000														50			39		0	0	0.004672	0	0
AKAP8	10270	broad.mit.edu	37	19	15472548	15472548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:15472548G>A	uc002nav.3	-	10	1458	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	AKAP8_uc010dzy.3_Missense_Mutation_p.P12L|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Missense_Mutation_p.P277L	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	463					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						ACCTTTGAAAGGATCTGGTTT	0.478000														343			161		0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31803068	31803068	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:31803068G>C	uc010dmi.3	-	0	448	c.150C>G	c.(148-150)aaC>aaG	p.N50K	NOL4_uc002kxr.4_5'Flank|NOL4_uc010xbt.2_5'Flank|NOL4_uc010dmh.3_5'Flank|NOL4_uc010xbu.2_Missense_Mutation_p.N50K|NOL4_uc002kxt.4_Missense_Mutation_p.N50K	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	50						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TAAATTTGGCGTTGTCCGTGG	0.597000														471			239		0	0	0.003610	0	0
TET1	80312	broad.mit.edu	37	10	70333459	70333459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:70333459C>T	uc001jok.4	+	1	1869	c.1364C>T	c.(1363-1365)aCt>aTt	p.T455I		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	455					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCAAAGCACTGTCTCATAT	0.463000														227			121		0	0	0.003610	0	0
C19orf54	284325	broad.mit.edu	37	19	41250078	41250078	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41250078G>A	uc002oou.1	-	3	661	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	C19orf54_uc002oow.1_Intron|C19orf54_uc002oox.1_Non-coding_Transcript|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.	181										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCACCTCCTGGGCCAGCCTG	0.662000														85			44		0	0	0.008740	0	0
HAL	3034	broad.mit.edu	37	12	96368029	96368029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:96368029G>A	uc001tem.1	-	20	2252	c.1955C>T	c.(1954-1956)cCg>cTg	p.P652L	HAL_uc010sux.1_3'UTR|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.P444L	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	652					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTCAGACTCCGGGATTTTGGT	0.428000														605			196		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61830110	61830110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61830110G>A	uc001jky.3	-	36	10867	c.10529C>T	c.(10528-10530)cCt>cTt	p.P3510L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3510					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGATCTGTCAGGATGTCTGCC	0.418000														15			15		0	0	0.003163	0	0
CNTN1	1272	broad.mit.edu	37	12	41312506	41312506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:41312506G>A	uc001rmm.1	+	3	273	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CNTN1_uc009zjy.2_Missense_Mutation_p.E54K|CNTN1_uc001rmn.1_Missense_Mutation_p.E43K|CNTN1_uc001rmo.3_Missense_Mutation_p.E54K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	54	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATTTATCCAGAGGAATCACT	0.413000														54			25		0	0	0.003330	0	0
SEMA6C	10500	broad.mit.edu	37	1	151115037	151115037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:151115037G>A	uc001ewv.3	-	2	397	c.61C>T	c.(61-63)Cat>Tat	p.H21Y	SEMA6C_uc001ewu.3_Missense_Mutation_p.H21Y|SEMA6C_uc001eww.3_Missense_Mutation_p.H21Y|SEMA6C_uc009wml.2_Intron	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	21						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCTGAGTATGGGGAAGTGAG	0.622000														381			428		0	0	0.003610	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854298	12854298	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:12854298G>A	uc001auj.2	+	2	625	c.522G>A	c.(520-522)agG>agA	p.R174R		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	174										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTACCAAAGGAGAGGTTTAG	0.418000														416			167		0	0	0.003610	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87329745	87329745	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:87329745A>G	uc003ujb.3	+	3	709	c.298A>G	c.(298-300)Acc>Gcc	p.T100A	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.T83A|RUNDC3B_uc011khe.2_Missense_Mutation_p.T83A|RUNDC3B_uc003ujc.3_Missense_Mutation_p.T83A|RUNDC3B_uc003ujd.3_Missense_Mutation_p.T5A	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	100	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AGGTCAAGTAACCTGGTTTGG	0.338000														27			20		0	0	0.007413	0	0
APBA1	320	broad.mit.edu	37	9	72131545	72131545	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:72131545C>T	uc004ahh.2	-	1	858	c.582G>A	c.(580-582)caG>caA	p.Q194Q		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	194					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACACGTGCTCCTGGAGGCCGC	0.692000														39			93		0	0	0.003610	0	0
HNRNPAB	3182	broad.mit.edu	37	5	177636398	177636398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:177636398G>A	uc003miu.3	+	5	994	c.737G>A	c.(736-738)gGa>gAa	p.G246E	HNRNPAB_uc003miv.3_Missense_Mutation_p.G246E|HNRNPAB_uc003mix.3_Missense_Mutation_p.G246E|AGXT2L2_uc003miy.3_Intron|AGXT2L2_uc003mjc.3_Intron|AGXT2L2_uc003mjb.3_Intron|AGXT2L2_uc003miz.3_Intron|AGXT2L2_uc003mja.3_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A/B (HNRNPAB), transcript variant 1, mRNA.	246	Gly-rich.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						GGGGGCCGTGGAAACCGCAAC	0.572000														115			205		0	0	0.003610	0	0
BPIFA1	51297	broad.mit.edu	37	20	31828158	31828158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:31828158C>T	uc002wyt.4	+	4	618	c.548C>T	c.(547-549)tCc>tTc	p.S183F	BPIFA1_uc002wyu.4_Missense_Mutation_p.S183F|BPIFA1_uc002wyv.3_Missense_Mutation_p.S183F	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	183					innate immune response	extracellular region	lipid binding										TGCACCCATTCCCCTGGAAGC	0.537000														199			101		0	0	0.003610	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103298	39103298	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:39103298G>A	uc002oix.1	-	8	726	c.618C>T	c.(616-618)atC>atT	p.I206I	MAP4K1_uc002oiy.1_Silent_p.I206I|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	206	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGCCAGTTCGATGGCCGTGA	0.632000														376			216		0	0	0.003610	0	0
FBN1	2200	broad.mit.edu	37	15	48707889	48707889	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:48707889A>G	uc001zwx.2	-	63	8290	c.7895T>C	c.(7894-7896)aTg>aCg	p.M2632T	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2632	EGF-like 46; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCGGGACACATGCACTTGTA	0.547000														85			52		0	0	0.003610	0	0
NFX1	4799	broad.mit.edu	37	9	33311115	33311115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:33311115C>T	uc003zsr.3	+	5	1541	c.1388C>T	c.(1387-1389)cCa>cTa	p.P463L	NFX1_uc011lnw.2_Missense_Mutation_p.P463L|NFX1_uc003zso.3_Missense_Mutation_p.P463L|NFX1_uc003zsp.2_Missense_Mutation_p.P463L|NFX1_uc010mjr.2_Missense_Mutation_p.P463L|NFX1_uc003zsq.3_Missense_Mutation_p.P463L	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	463					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CTCTGCCATCCAGGACCCTGC	0.453000														148			85		0	0	0.003610	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006426	118006426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:118006426C>T	uc003ibv.4	-	0	311	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	42					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TCTGCTGTTCCCTCGAACACA	0.537000														302			76		0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48623787	48623787	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:48623787G>A	uc003ctz.2	-	25	3529	c.3528C>T	c.(3526-3528)ccC>ccT	p.P1176P		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1176	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTCACGGATGGGGCTGAATA	0.587000														586			378		0	0	0.003610	0	0
CNTN5	53942	broad.mit.edu	37	11	100179193	100179193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:100179193G>A	uc001pga.3	+	20	3227	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E	CNTN5_uc001pfz.3_Missense_Mutation_p.G908E|CNTN5_uc021qpb.1_Missense_Mutation_p.G908E|CNTN5_uc021qpc.1_Missense_Mutation_p.G834E|CNTN5_uc010ruk.2_Missense_Mutation_p.G179E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	908	Fibronectin type-III 3.				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)		AGACCACAGGGATTTGAGGTA	0.423000														41			13		0	0	0.004007	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526055	68526055	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:68526055C>T	uc009xpn.1	-	8	1371	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	CTNNA3_uc001jmw.2_Silent_p.A416A|CTNNA3_uc001jmx.4_Silent_p.A416A	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	416					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATGAAATATCGCAGCATATT	0.433000														27			11		0	0	0.000978	0	0
SPTB	6710	broad.mit.edu	37	14	65262071	65262071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:65262071C>T	uc001xht.3	-	10	1679	c.1628G>A	c.(1627-1629)tGg>tAg	p.W543*	SPTB_uc001xhr.3_Nonsense_Mutation_p.W543*|SPTB_uc001xhs.3_Nonsense_Mutation_p.W543*|SPTB_uc001xhu.3_Nonsense_Mutation_p.W543*	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	543					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCATCCATCCAGTCGATGCT	0.632000														122			80		0	0	0.003610	0	0
CEP192	55125	broad.mit.edu	37	18	13049187	13049187	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:13049187C>T	uc010xac.2	+	15	2477	c.2397C>T	c.(2395-2397)aaC>aaT	p.N799N	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.N324N|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Silent_p.N540N	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	394										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATTGGAAAACTTTTCAAGGG	0.343000														38			26		0	0	0.004656	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724051	38724051	+	Missense_Mutation	SNP	C	T	T	rs112354022	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:38724051C>T	uc001wum.1	-	0	1524	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	393						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAGGAGGAGTCGAAAGCCTGA	0.498000														213			154		0	0	0.003610	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:71346978T>C	uc011cat.2	+	3	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_uc011cau.2_Missense_Mutation_p.S173P|MUC7_uc003hfj.3_Missense_Mutation_p.S173P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	173	Thr-rich.					extracellular region	protein binding	p.S173P(6)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000														94			4		0	0	0.001168	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901443	160901443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:160901443G>A	uc002ube.2	-	1	547	c.335C>T	c.(334-336)tCc>tTc	p.S112F	PLA2R1_uc010zcp.2_Missense_Mutation_p.S112F|PLA2R1_uc002ubf.3_Missense_Mutation_p.S112F	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	112	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCACCGTAAGGAAACGAGGGT	0.532000														136			69		0	0	0.003610	0	0
CPEB2	132864	broad.mit.edu	37	4	15067856	15067856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:15067856C>T	uc003gnk.2	+	11	2957	c.2957C>T	c.(2956-2958)cCc>cTc	p.P986L	CPEB2_uc003gnl.2_Missense_Mutation_p.P959L|CPEB2_uc003gnm.2_Missense_Mutation_p.P956L|CPEB2_uc003gni.2_Missense_Mutation_p.P978L|CPEB2_uc003gnn.2_Missense_Mutation_p.P951L|CPEB2_uc003gnj.2_Missense_Mutation_p.P948L	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	541					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AAATTTGCTCCCTTTTTTTGT	0.443000														90			15		0	0	0.006122	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891764	2891764	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:2891764C>T	uc002kln.3	+	3	1798	c.1639C>T	c.(1639-1641)Caa>Taa	p.Q547*		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	547					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGACAAAGTTCAAGTTGTTGA	0.552000														312			172		0	0	0.003610	0	0
SSX8	280659	broad.mit.edu	37	X	52657344	52657344	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:52657344G>A	uc011moa.1	+	4		c.611G>A			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		GAATCATCCCGAAGGTGAGTA	0.408000														38			105		0	0	0.003610	0	0
ILDR2	387597	broad.mit.edu	37	1	166926004	166926004	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:166926004C>T	uc001gdx.2	-	2	521	c.465G>A	c.(463-465)ggG>ggA	p.G155G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	155	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCTCATTTTTCCCCTCCAGGT	0.438000														209			246		0	0	0.003610	0	0
AP4E1	23431	broad.mit.edu	37	15	51289545	51289545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:51289545C>T	uc001zyx.2	+	17	2476	c.2369C>T	c.(2368-2370)tCt>tTt	p.S790F	AP4E1_uc021skz.1_Missense_Mutation_p.S715F|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	790					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GATACTGTCTCTCACAAGTTC	0.308000														15			4		0	0	0.001168	0	0
SLC7A10	56301	broad.mit.edu	37	19	33706762	33706762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:33706762G>A	uc002num.2	-	1	416	c.269C>T	c.(268-270)tCc>tTc	p.S90F	SLC7A10_uc010xrq.2_Intron	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	90					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATAGCAGAGGGAGCCCAGAGC	0.667000														72			32		0	0	0.002096	0	0
ESPL1	9700	broad.mit.edu	37	12	53664583	53664583	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:53664583G>A	uc001sck.2	+	5	1460	c.1369_splice	c.e5+1	p.A457_splice	ESPL1_uc001scj.2_Splice_Site_p.A132_splice	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	457					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGGATGACCGGTTAGTGCCCT	0.562000														379			124		0	0	0.003610	0	0
RASAL2	9462	broad.mit.edu	37	1	178427384	178427385	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:178427384_178427385CC>TT	uc001glq.3	+	13	3721_3722	c.2957_2958CC>TT	c.(2956-2958)tcc>tTT	p.S986F	RASAL2_uc001glr.3_Missense_Mutation_p.S845F|RASAL2_uc009wxc.3_Missense_Mutation_p.S359F	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	845					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GAGGACTTCTCCAGGCGGCACA	0.510000														111			161		0	0	0.004672	0	0
PGR	5241	broad.mit.edu	37	11	100999653	100999653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:100999653G>A	uc001pgh.2	-	0	892	c.149C>T	c.(148-150)gCc>gTc	p.A50V	PGR_uc001pgi.2_Missense_Mutation_p.A50V|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	50	Modulating, Pro-Rich.		A -> T (in dbSNP:rs11571143).		cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GATAGGTATGGCCGAAACTTC	0.677000														121			116		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110471946	110471946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:110471946G>A	uc003yne.3	+	46	7231	c.7127G>A	c.(7126-7128)gGa>gAa	p.G2376E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2376					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L2375L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCCTGATGGAACTCTGTTT	0.363000										HNSCC(38;0.096)				20			5		0	0	0.000602	0	0
CRLF2	64109	broad.mit.edu	37	X	1314897	1314897	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:1314897C>T	uc004cpk.2	-	5	766	c.764G>A	c.(763-765)tGg>tAg	p.W255*	CRLF2_uc022brt.1_Nonsense_Mutation_p.W255*|CRLF2_uc004cpl.2_Nonsense_Mutation_p.W143*|CRLF2_uc022brs.1_Nonsense_Mutation_p.W255*	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	255						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCCTTACCTCCATAATTTCCA	0.473000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									51			61		0	0	0.003610	0	0
HTR3E	285242	broad.mit.edu	37	3	183823977	183823977	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:183823977C>T	uc010hxr.3	+	5	1259	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	HTR3E_uc010hxq.3_Silent_p.I329I|HTR3E_uc003fml.4_Silent_p.I314I|HTR3E_uc003fmm.3_Silent_p.I344I|HTR3E_uc003fmn.3_Silent_p.I329I	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	329						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.P355A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCATCTTCATCACCCACCTGC	0.667000														283			138		0	0	0.003610	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25263266	25263266	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:25263266A>T	uc002dod.4	-	3	1176	c.769T>A	c.(769-771)Ttc>Atc	p.F257I	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.F53I|ZKSCAN2_uc002doe.2_Missense_Mutation_p.F257I	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	257	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCCTTCCTGAAATCCCGGTAG	0.463000														343			218		0	0	0.003610	0	0
AARD	441376	broad.mit.edu	37	8	117950537	117950537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:117950537G>A	uc003yof.3	+	0	74	c.55G>A	c.(55-57)Gga>Aga	p.G19R	AL832163_uc022baa.1_Non-coding_Transcript	NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	Homo sapiens chromosome 8 open reading frame 85 (C8orf85), mRNA.	19																	GGGGCTCCAGGGACTCCCAGG	0.662000														211			122		0	0	0.003610	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:197348634G>C	uc011bug.2	-	3		c.457C>G			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		CAGCAGCACCGATGGGCCTGC	0.542000														583			12		0	0	0.000978	0	0
OR5V1	81696	broad.mit.edu	37	6	29323164	29323164	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:29323164T>A	uc011dlo.2	-	0	891	c.809A>T	c.(808-810)aAa>aTa	p.K270I		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAACCTATCTTTCTTTAATGA	0.418000														122			57		0	0	0.003610	0	0
TUSC3	7991	broad.mit.edu	37	8	15517093	15517093	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:15517093C>T	uc003wwt.3	+	3	848	c.504C>T	c.(502-504)ctC>ctT	p.L168L	TUSC3_uc003wwu.3_Silent_p.L168L	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	168					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTTTTGACCTCCAAAGAATTG	0.383000														73			35		0	0	0.002445	0	0
HMCN1	83872	broad.mit.edu	37	1	186107027	186107027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:186107027C>T	uc001grq.1	+	88	14076	c.13847C>T	c.(13846-13848)cCa>cTa	p.P4616L	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.P185L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4616	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCAATAATCCATCAGTTCAG	0.493000														63			31		0	0	0.008361	0	0
TCEANC	170082	broad.mit.edu	37	X	13681193	13681193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:13681193C>T	uc010neg.1	+	3	901	c.656C>T	c.(655-657)tCc>tTc	p.S219F	TCEANC_uc010nef.1_Missense_Mutation_p.S189F|TCEANC_uc010nee.2_Missense_Mutation_p.S189F|TCEANC_uc004cvk.2_Missense_Mutation_p.S189F|TCEANC_uc004cvl.3_Non-coding_Transcript	NM_152634	NP_689847	Q8N8B7	TEANC_HUMAN	Homo sapiens transcription elongation factor A (SII) N-terminal and central domain containing (TCEANC), mRNA.	189	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.K219N(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						ACTAGTTCTTCCACAGATCAA	0.388000														65			198		0	0	0.003610	0	0
DUSP15	128853	broad.mit.edu	37	20	30436629	30436629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:30436629C>T	uc002wwu.1	-	8	783	c.706G>A	c.(706-708)Gag>Aag	p.E236K				Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	236						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGCTGCTCCTTGGGGTGC	0.607000														209			97		0	0	0.003610	0	0
CACNG4	27092	broad.mit.edu	37	17	65021002	65021002	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:65021002C>G	uc002jft.2	+	2	379	c.331C>G	c.(331-333)Ccc>Gcc	p.P111A		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	111					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CAGCGTCTTCCCCATCCTCAG	0.642000														567			223		0	0	0.003610	0	0
MCF2L	23263	broad.mit.edu	37	13	113679023	113679023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:113679023C>T	uc001vsu.3	+	2	400	c.400C>T	c.(400-402)Ccg>Tcg	p.P134S	MCF2L_uc001vsq.3_Missense_Mutation_p.P134S|MCF2L_uc010tjr.2_Missense_Mutation_p.P77S|MCF2L_uc001vsr.3_Missense_Mutation_p.P81S|MCF2L_uc001vss.4_Missense_Mutation_p.P75S|MCF2L_uc010tjs.2_Missense_Mutation_p.P75S	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	107	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGCGAGATTCCGGACAAGGA	0.622000														418			230		0	0	0.003610	0	0
DNTT	1791	broad.mit.edu	37	10	98092300	98092300	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:98092300C>T	uc001kmf.3	+	8	1476	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L	DNTT_uc001kmg.3_Silent_p.L436L	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	436	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GGATTTAGTTCTGTGCCCCTA	0.527000														51			48		0	0	0.003610	0	0
MRVI1	10335	broad.mit.edu	37	11	10647749	10647749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:10647749C>T	uc010rcc.1	-	8	1518	c.1132G>A	c.(1132-1134)Gct>Act	p.A378T	MRVI1_uc010rcb.1_Missense_Mutation_p.A370T|MRVI1_uc001miw.2_Missense_Mutation_p.A369T|MRVI1_uc001mix.3_Missense_Mutation_p.A63T|MRVI1_uc001miz.2_Missense_Mutation_p.A287T|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.A63T|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	351					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAAGCTCAGCTTTGGAGCCA	0.692000														82			66		0	0	0.003610	0	0
NCR2	9436	broad.mit.edu	37	6	41304018	41304018	+	Silent	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41304018A>C	uc003oqh.2	+	1	333	c.246A>C	c.(244-246)acA>acC	p.T82T	NCR2_uc003oqj.2_Silent_p.T82T|NCR2_uc003oqi.2_Silent_p.T82T	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	82	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTCGATTCACAATCTGGGACG	0.522000														105			53		0	0	0.003610	0	0
CLDN11	5010	broad.mit.edu	37	3	170150513	170150513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:170150513C>T	uc003fgx.3	+	2	795	c.593C>T	c.(592-594)tCc>tTc	p.S198F	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Missense_Mutation_p.S114F	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	198				RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187).	calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGCTCTAGCTCCCCGACTCAT	0.612000														202			125		0	0	0.003610	0	0
OR56A1	120796	broad.mit.edu	37	11	6048713	6048713	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6048713G>A	uc010qzw.2	-	0	259	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCCAGCAGGGAGAGGAGGC	0.592000														45			18		0	0	0.010504	0	0
PLAT	5327	broad.mit.edu	37	8	42037570	42037570	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:42037570T>C	uc003xos.2	-	11	1446	c.1237A>G	c.(1237-1239)Aaa>Gaa	p.K413E	PLAT_uc010lxf.1_Missense_Mutation_p.K330E|PLAT_uc010lxg.1_Missense_Mutation_p.K238E|PLAT_uc003xot.2_Missense_Mutation_p.K367E|PLAT_uc011lcm.1_Missense_Mutation_p.K324E|PLAT_uc011lcn.1_Missense_Mutation_p.K287E	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	413	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAATCCGATTTCAGCTGCAGC	0.692000														105			65		0	0	0.003610	0	0
NOS1	4842	broad.mit.edu	37	12	117669901	117669901	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:117669901G>T	uc001twn.2	-	22	4084	c.3373C>A	c.(3373-3375)Ccg>Acg	p.P1125T	NOS1_uc021ren.1_Missense_Mutation_p.P755T|NOS1_uc021reo.1_Missense_Mutation_p.P755T|NOS1_uc001twm.2_Missense_Mutation_p.P1091T	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1091	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E1124K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGCAGGGCGGGAGGCGGAGC	0.602000														55			33		9.45814e-24	1.38686e-23	0.004878	1	0
SEMA5B	54437	broad.mit.edu	37	3	122632406	122632407	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122632406_122632407CC>TT	uc003efz.1	-	15	2558_2559	c.2254_2255GG>AA	c.(2254-2256)ggc>AAc	p.G752N	SEMA5B_uc011bju.1_Missense_Mutation_p.G694N|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.G752N|SEMA5B_uc010hro.1_Missense_Mutation_p.G694N|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	752	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCAGGAGTTGCCGTTCTCGCAG	0.713000														186			111		0	0	0.004672	0	0
CR2	1380	broad.mit.edu	37	1	207642195	207642195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:207642195C>T	uc001hfw.3	+	3	804	c.685C>T	c.(685-687)Cct>Tct	p.P229S	CR2_uc001hfv.3_Missense_Mutation_p.P229S|CR2_uc009xch.3_Missense_Mutation_p.P229S|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	229	Sushi 4.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTAAAGGAGCCTCCAATTCT	0.413000														73			94		0	0	0.003610	0	0
OR10P1	121130	broad.mit.edu	37	12	56031459	56031459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56031459C>T	uc010spq.2	+	0	784	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I261I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CACCTACATCCGGCCGCAGGC	0.577000														291			75		0	0	0.003610	0	0
XKR9	389668	broad.mit.edu	37	8	71619189	71619189	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:71619189G>A	uc003xyq.3	+	3	828	c.294G>A	c.(292-294)agG>agA	p.R98R	XKR9_uc010lzd.3_5'UTR|XKR9_uc010lze.3_Silent_p.R98R	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	98						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CCTTAAAAAGGGGTTACCATG	0.289000														18			7		0	0	0.001984	0	0
KCNH7	90134	broad.mit.edu	37	2	163693197	163693197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:163693197C>T	uc002uch.2	-	1	386	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	KCNH7_uc002uci.3_Missense_Mutation_p.G53S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	53	PAS.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTGGAGAAACCAGTCATCTCA	0.443000														178			103		0	0	0.003610	0	0
SBSPON	157869	broad.mit.edu	37	8	73993372	73993372	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:73993372C>T	uc003xzf.3	-	1	496	c.291G>A	c.(289-291)cgG>cgA	p.R97R		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	97	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										CCGAGCGCCTCCGCACACGGG	0.662000														462			199		0	0	0.003610	0	0
SRFBP1	153443	broad.mit.edu	37	5	121356448	121356448	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:121356448T>A	uc003kst.1	+	5	1090	c.1018T>A	c.(1018-1020)Tta>Ata	p.L340I		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	Homo sapiens serum response factor binding protein 1 (SRFBP1), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AACCAGAAAGTTAGAATCAGT	0.313000														11			4		0	0	0.009096	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269448	100269448	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:100269448G>A	uc002bvl.3	-	5	1047	c.774C>T	c.(772-774)atC>atT	p.I258I	LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvk.3_Silent_p.I257I|LYSMD4_uc010bov.3_Silent_p.I257I	NM_152449	NP_689662	Q5XG99	LYSM4_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4 (LYSMD4), mRNA.	257					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			AGCCATTGGGGATGACAGTTG	0.488000														562			348		0	0	0.003610	0	0
GPR161	23432	broad.mit.edu	37	1	168065809	168065809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:168065809G>A	uc010pln.2	-	3	1630	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	GPR161_uc001gfb.3_Missense_Mutation_p.R214W|GPR161_uc001gfc.3_Missense_Mutation_p.R346W|GPR161_uc010pll.2_Missense_Mutation_p.R256W|GPR161_uc010plm.2_Missense_Mutation_p.R232W|GPR161_uc009wvo.3_Missense_Mutation_p.R363W|GPR161_uc001gfd.3_Missense_Mutation_p.R346W|GPR161_uc001gfe.1_Missense_Mutation_p.R346W	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	346					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T366T(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AATGGTTCCCGATAATACCGG	0.527000														205			245		0	0	0.003610	0	0
PTGFR	5737	broad.mit.edu	37	1	78958572	78958572	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:78958572C>T	uc001din.3	+	1	410	c.144C>T	c.(142-144)atC>atT	p.I48I	PTGFR_uc001dim.3_Silent_p.I48I	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	48					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCCTTGCCATCGCCATTCTCA	0.453000														536			305		0	0	0.003610	0	0
DTX1	1840	broad.mit.edu	37	12	113532612	113532612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113532612G>A	uc001tuk.1	+	5	1582	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	416					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CATCTGCATGGAGCGACTGGT	0.667000														280			84		0	0	0.003610	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103025222	103025222	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:103025222C>T	uc001phn.1	+	22	3489	c.3345C>T	c.(3343-3345)tcC>tcT	p.S1115S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.S1115S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1115	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTAATTTCTCCCTGGCAAGTA	0.333000														10			6		0	0	0.004482	0	0
PAPOLA	10914	broad.mit.edu	37	14	96998708	96998708	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:96998708C>G	uc001yfq.3	+	7	865	c.648C>G	c.(646-648)aaC>aaG	p.N216K	PAPOLA_uc001yfp.3_Missense_Mutation_p.N216K|PAPOLA_uc001yfo.3_3'UTR|PAPOLA_uc001yfr.3_Missense_Mutation_p.N216K|PAPOLA_uc010twv.2_Missense_Mutation_p.N216K|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	216				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TAGTACCAAACATTGACAACT	0.348000														31			3		0	0	0.004672	0	0
MSH5	4439	broad.mit.edu	37	6	31711766	31711766	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31711766C>T	uc003nwu.2	+	5	629	c.501C>T	c.(499-501)ttC>ttT	p.F167F	MSH5_uc003nwx.2_Silent_p.F167F|MSH5_uc003nwv.2_Silent_p.F167F|MSH5_uc003nww.2_Silent_p.F167F|MSH5_uc011dof.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	167					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						AAATCCTCTTCCTCTCTTCCA	0.522000								Direct reversal of damage;Mismatch excision repair (MMR)						582			379		0	0	0.003610	0	0
CAPN13	92291	broad.mit.edu	37	2	30966439	30966439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:30966439G>A	uc021vfn.1	-	11	1287	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R415W|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	419					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AATTTCTCCCGGAACCGCTGG	0.473000														78			50		0	0	0.003610	0	0
PRRC2B	84726	broad.mit.edu	37	9	134354730	134354730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:134354730C>T	uc004can.4	+	17	4905	c.4850C>T	c.(4849-4851)aCc>aTc	p.T1617I	PRRC2B_uc004cao.4_Missense_Mutation_p.T975I	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1617							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGTGACGTGACCGTGCCTGGC	0.577000														56			138		0	0	0.003610	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139830	55139830	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:55139830C>T	uc003han.4	+	9	1822	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Silent_p.I391I|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	497	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAGACCATCGCCGTGCGAT	0.547000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				131			24		0	0	0.002299	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148867830	148867830	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:148867830A>C	uc003ilf.3	+	14	1366	c.1366A>C	c.(1366-1368)Aca>Cca	p.T456P	ARHGAP10_uc003ilg.3_Missense_Mutation_p.T105P|ARHGAP10_uc003ilh.3_Missense_Mutation_p.T37P	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	456	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGACAATAACAAGTGCCTT	0.368000														43			5		0	0	0.000602	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762391	92762391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:92762391C>T	uc003umh.1	-	4	4110	c.2894G>A	c.(2893-2895)gGa>gAa	p.G965E	SAMD9L_uc003umj.1_Missense_Mutation_p.G965E|SAMD9L_uc003umi.1_Missense_Mutation_p.G965E|SAMD9L_uc010lfb.1_Missense_Mutation_p.G965E|SAMD9L_uc003umk.1_Missense_Mutation_p.G965E|SAMD9L_uc010lfc.1_Missense_Mutation_p.G965E|SAMD9L_uc010lfd.1_Missense_Mutation_p.G965E|SAMD9L_uc022ahh.1_Missense_Mutation_p.G965E	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	965										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATAAGTTCCCATCTTGTC	0.383000														20			5		0	0	0.000602	0	0
ESPNP	284729	broad.mit.edu	37	1	17033878	17033878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:17033878C>T	uc001azn.1	-	3	601	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	ESPNP_uc010ocj.1_3'UTR					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		TCGCGGACTTCCAGCTCCGCG	0.716000														160			17		0	0	0.008871	0	0
C20orf27	54976	broad.mit.edu	37	20	3740717	3740717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:3740717G>A	uc002wjh.1	-	1	260	c.31C>T	c.(31-33)Cct>Tct	p.P11S	C20orf27_uc002wjf.1_Missense_Mutation_p.P11S|C20orf27_uc002wji.1_Intron	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	Homo sapiens chromosome 20 open reading frame 27 (C20orf27), mRNA.	0										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						ACCACGCCAGGAAGGCACTTA	0.642000														469			273		0	0	0.003610	0	0
C10orf113	387638	broad.mit.edu	37	10	21435362	21435362	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:21435362G>A	uc001iqm.3	-	0	127	c.76C>T	c.(76-78)Cta>Tta	p.L26L	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Silent_p.L26L	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	26										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATATAAGCTAGAGGACAGCCA	0.378000														61			17		0	0	0.004007	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:66499680C>A	uc004aee.1	+	0	490	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000														215			34		5.04308e-16	7.37684e-16	0.006230	1	0
ACSBG2	81616	broad.mit.edu	37	19	6183239	6183239	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:6183239G>A	uc002mef.1	+	9	1505	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	ACSBG2_uc002mee.1_Silent_p.S239S|ACSBG2_uc002meg.1_Silent_p.S426S|ACSBG2_uc002meh.1_Silent_p.S426S|ACSBG2_uc002mei.1_Silent_p.S376S|ACSBG2_uc010xiz.1_Silent_p.S426S	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	426					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAGAGCTCGGGACCCCACA	0.547000														105			49		0	0	0.003610	0	0
CADM2	253559	broad.mit.edu	37	3	85984961	85984961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:85984961G>A	uc003dql.3	+	5	724	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	CADM2_uc003dqj.3_Missense_Mutation_p.E240K|CADM2_uc003dqk.3_Missense_Mutation_p.E249K|CADM2_uc003dqm.2_Missense_Mutation_p.E132K|CADM2_uc021xay.1_Missense_Mutation_p.E132K|CADM2_uc021xaz.1_Missense_Mutation_p.E132K|CADM2_uc021xba.1_Missense_Mutation_p.E132K	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	240	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTTTCCACAAGAAGGACAGCC	0.294000														24			11		0	0	0.001368	0	0
PBRM1	55193	broad.mit.edu	37	3	52620639	52620639	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:52620639A>T	uc003des.2	-	19	3201	c.3189T>A	c.(3187-3189)taT>taA	p.Y1063*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.Y1063*|PBRM1_uc003der.2_Nonsense_Mutation_p.Y1031*|PBRM1_uc003det.2_Nonsense_Mutation_p.Y1078*|PBRM1_uc003deu.2_Nonsense_Mutation_p.Y1078*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.Y1063*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.Y1038*|PBRM1_uc003dey.2_Nonsense_Mutation_p.Y1038*|PBRM1_uc003dez.1_Nonsense_Mutation_p.Y1062*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.Y975*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.Y409*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1063	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTGGCAGAATACCGTGATT	0.458000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									82			58		0	0	0.003610	0	0
NEBL	10529	broad.mit.edu	37	10	21250658	21250658	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:21250658G>A	uc001iqk.3	-	3	654	c.300C>T	c.(298-300)atC>atT	p.I100I	NEBL_uc021pnu.1_Silent_p.I100I	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	763					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCGTGACGATGCTGAAGC	0.458000														54			15		0	0	0.003163	0	0
ETV1	2115	broad.mit.edu	37	7	13971355	13971355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:13971355C>T	uc021zzz.1	-	6	661	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	ETV1_uc021zzt.1_Missense_Mutation_p.E152K|ETV1_uc021zzu.1_Missense_Mutation_p.E89K|ETV1_uc021zzv.1_Missense_Mutation_p.E134K|ETV1_uc021zzw.1_Missense_Mutation_p.E152K|ETV1_uc021zzx.1_Missense_Mutation_p.E89K|ETV1_uc021zzy.1_Missense_Mutation_p.E134K|ETV1_uc022aaa.1_Missense_Mutation_p.E174K|ETV1_uc022aab.1_Missense_Mutation_p.E192K|ETV1_uc003ssw.4_Missense_Mutation_p.E192K|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.E174K|ETV1_uc022aad.1_Missense_Mutation_p.E174K|ETV1_uc010ktv.3_Missense_Mutation_p.E61K	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	192					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTACAGGGTTCAGAAAGCTGG	0.468000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									69			42		0	0	0.003610	0	0
SULT1E1	6783	broad.mit.edu	37	4	70719964	70719964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:70719964G>A	uc003heo.3	-	3	453	c.340C>T	c.(340-342)Cct>Tct	p.P114S	SULT1E1_uc010ihv.1_Missense_Mutation_p.P114S	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	114					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AATGAGGCAGGAAGAAGTTCA	0.348000														124			35		0	0	0.006230	0	0
NCF2	4688	broad.mit.edu	37	1	183543646	183543646	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:183543646G>A	uc001gqj.4	-	3	752	c.477C>T	c.(475-477)atC>atT	p.I159I	NCF2_uc010pod.2_Intron|NCF2_uc010poe.2_Intron|NCF2_uc001gqk.4_Silent_p.I159I	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	159					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCGCCTTGTCGATTTTGGAAT	0.463000														319			419		0	0	0.003610	0	0
KCNA10	3744	broad.mit.edu	37	1	111060471	111060471	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:111060471G>A	uc001dzt.1	-	0	1327	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	313						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAAAGTAGGGGATAATGGAGA	0.527000														147			87		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41465770	41465770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:41465770G>A	uc002yyq.1	-	20	4180	c.3728C>T	c.(3727-3729)tCg>tTg	p.S1243L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1243	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D1242N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTAGGAAAACGAGTCGGGAGA	0.478000														16			17		0	0	0.007413	0	0
PRKG1	5592	broad.mit.edu	37	10	54040672	54040672	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:54040672C>T	uc001jjm.3	+	12	1710	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	PRKG1_uc001jjo.3_Silent_p.H509H|PRKG1_uc009xow.2_Silent_p.H212H|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	494	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCCTAGATCACCGAGGTTATG	0.388000														24			6		0	0	0.001168	0	0
HEATR8	374977	broad.mit.edu	37	1	55144429	55144429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:55144429G>A	uc010ooe.1	+	10	2275	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.E219K|HEATR8_uc010ood.1_Missense_Mutation_p.E169K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.E651K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	651						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGAGATAAGGAAGAGACCAA	0.483000														125			69		0	0	0.003610	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400545	83400545	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:83400545G>A	uc004eej.2	-	5	478	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	RPS6KA6_uc011mqt.2_Silent_p.L148L|RPS6KA6_uc011mqu.2_Silent_p.L45L|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	148	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						ATTAAGTACAGTTTCCCTTCA	0.289000														4			10		0	0	0.000978	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034623	46034623	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:46034623C>T	uc021omx.1	+	8	1195	c.777C>T	c.(775-777)atC>atT	p.I259I	AKR1A1_uc021omy.1_Silent_p.I259I|AKR1A1_uc001cod.3_Silent_p.I259I|AKR1A1_uc001coe.3_Silent_p.I259I|AKR1A1_uc001cof.3_Silent_p.I65I	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	259					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GGAAAGTGATCTGCATCCCCA	0.453000														280			181		0	0	0.003610	0	0
MOG	4340	broad.mit.edu	37	6	29627395	29627395	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:29627395C>T	uc003nnf.3	+	1	617	c.388C>T	c.(388-390)Cga>Tga	p.R130*	MOG_uc003qzk.2_Nonsense_Mutation_p.R130*|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Nonsense_Mutation_p.R130*|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Nonsense_Mutation_p.R60*|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Nonsense_Mutation_p.R130*|MOG_uc003nng.3_Nonsense_Mutation_p.R130*|MOG_uc003nni.3_Nonsense_Mutation_p.R130*|MOG_uc003nnh.3_Nonsense_Mutation_p.R130*|MOG_uc003nnj.3_Nonsense_Mutation_p.R130*|MOG_uc003nnk.3_Nonsense_Mutation_p.R130*	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	130	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTGCTTCTTCCGAGATCATTC	0.453000														88			42		0	0	0.002522	0	0
RIMBP2	23504	broad.mit.edu	37	12	130897293	130897293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:130897293C>T	uc001uil.2	-	14	2908	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	898	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACAGGTTTCCCCACGGTAG	0.438000														136			121		0	0	0.003610	0	0
IMPAD1	54928	broad.mit.edu	37	8	57890662	57890662	+	Missense_Mutation	SNP	A	T	T	rs76062026		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:57890662A>T	uc003xte.4	-	2	879	c.593T>A	c.(592-594)gTa>gAa	p.V198E		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	198						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TTTACCATTTACAGCCACACA	0.333000														234			122		0	0	0.003610	0	0
SCEL	8796	broad.mit.edu	37	13	78133981	78133981	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:78133981C>T	uc001vki.3	+	3	374	c.204C>T	c.(202-204)tcC>tcT	p.S68S	SCEL_uc010thx.2_Silent_p.S68S|SCEL_uc001vkj.3_Silent_p.S68S	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	68					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GACATAATTCCCATGATGCAT	0.398000														110			39		0	0	0.008740	0	0
CALCR	799	broad.mit.edu	37	7	93090138	93090138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:93090138C>T	uc003umv.2	-	9	1045	c.745G>A	c.(745-747)Gac>Aac	p.D249N	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.D215N|CALCR_uc003umw.2_Missense_Mutation_p.D215N	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	231					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CTTACCGGGTCCCTTCGCACG	0.383000														15			9		0	0	0.006214	0	0
ARID1A	8289	broad.mit.edu	37	1	27088784	27088785	+	Missense_Mutation	DNP	CC	TT	TT	rs140683722		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:27088784_27088785CC>TT	uc001bmv.1	+	6	2766_2767	c.2393_2394CC>TT	c.(2392-2394)ccc>cTT	p.P798L	ARID1A_uc001bmt.1_Missense_Mutation_p.P798L|ARID1A_uc001bmu.1_Missense_Mutation_p.P798L|ARID1A_uc001bmw.1_Missense_Mutation_p.P415L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	798					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTATGGTCCCCAGGGGGGTC	0.559000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									178			67		0	0	0.004672	0	0
ARMC4	55130	broad.mit.edu	37	10	28228936	28228936	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:28228936C>T	uc009xky.3	-	14	2085	c.1987_splice	c.e14-1	p.E663_splice	ARMC4_uc010qds.2_Splice_Site_p.E188_splice|ARMC4_uc010qdt.2_Splice_Site_p.E355_splice|ARMC4_uc001itz.3_Splice_Site_p.E663_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	663							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CGGTAGTTTTCCTAGGAATAA	0.368000														17			6		0	0	0.004482	0	0
SYPL2	284612	broad.mit.edu	37	1	110022024	110022024	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:110022024C>T	uc001dxp.3	+	5	1039	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	SYPL2_uc010ovk.2_Silent_p.L161L	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	225	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CAACTTCTTCCTGTGGGCCGG	0.572000														596			352		0	0	0.003610	0	0
HDAC7	51564	broad.mit.edu	37	12	48191260	48191260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:48191260C>T	uc010slo.2	-	5	679	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	HDAC7_uc001rqj.4_Missense_Mutation_p.E162K|HDAC7_uc001rqk.4_Missense_Mutation_p.E145K|HDAC7_uc009zkv.1_Missense_Mutation_p.E123K	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	123	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GTGGCTCCTTCCGTCTCCAGG	0.642000														290			263		0	0	0.003610	0	0
COL4A6	1288	broad.mit.edu	37	X	107418430	107418430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:107418430G>A	uc004enw.4	-	29	2952	c.2849C>T	c.(2848-2850)cCg>cTg	p.P950L	COL4A6_uc004env.4_Missense_Mutation_p.P949L|COL4A6_uc011msn.2_Missense_Mutation_p.P949L|COL4A6_uc010npk.3_Missense_Mutation_p.P949L	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	950	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GACTGGCCCCGGATTGCCTCT	0.512000									Alport syndrome with Diffuse Leiomyomatosis					30			92		0	0	0.003610	0	0
OR5A2	219981	broad.mit.edu	37	11	59189564	59189564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:59189564G>A	uc010rkt.2	-	0	863	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTAGATGATGGGATTCACCAC	0.463000														34			4		0	0	0.000602	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171914	207171914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:207171914G>A	uc002vbp.2	+	4	2912	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	888							nucleic acid binding|zinc ion binding	p.E888K(2)|p.P887P(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAATTCTCCCGAAGTAGCTGT	0.363000														30			21		0	0	0.002299	0	0
IFNA4	3441	broad.mit.edu	37	9	21187427	21187427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:21187427C>T	uc003zon.2	-	0	172	c.104G>A	c.(103-105)aGg>aAg	p.R35K		NM_021068	NP_066546	P05014	IFNA4_HUMAN	Homo sapiens interferon, alpha 4 (IFNA4), mRNA.	35					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGGCCCTCCTATTACCCAG	0.522000														41			28		0	0	0.002836	0	0
OR10G2	26534	broad.mit.edu	37	14	22102532	22102532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:22102532G>A	uc010tmc.2	-	0	467	c.467C>T	c.(466-468)gCc>gTc	p.A156V		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A156A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CATGGAGCCGGCGACCCAAGC	0.557000														165			84		0	0	0.003610	0	0
LAS1L	81887	broad.mit.edu	37	X	64744894	64744894	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:64744894G>A	uc004dwa.2	-	7	1084	c.993C>T	c.(991-993)ttC>ttT	p.F331F	LAS1L_uc004dwc.2_Silent_p.F331F|LAS1L_uc004dwd.2_Silent_p.F289F	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	331						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TGGGGACAAGGAAGCCATCAT	0.512000														11			48		0	0	0.003610	0	0
TGFBR3	7049	broad.mit.edu	37	1	92195501	92195501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:92195501C>T	uc001doh.3	-	5	1113	c.598G>A	c.(598-600)Ggg>Agg	p.G200R	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Missense_Mutation_p.G158R|TGFBR3_uc001doi.3_Missense_Mutation_p.G200R|TGFBR3_uc001doj.3_Missense_Mutation_p.G200R	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	200					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AAATTCTTCCCTATGTTGCAC	0.478000														55			49		0	0	0.003610	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	66813	66813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrGL000209.1:66813C>T	uc002qud.4	+	4	929	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.R259C|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.R303C|KIR2DL2_uc002quc.4_Missense_Mutation_p.R264C|KIR2DL2_uc002quh.4_Intron|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Intron|KIR2DL2_uc010evf.3_Non-coding_Transcript	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	266					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCTCCTTCATCGCTGGTGCTC	0.527000														66			51		0	0	0.003610	0	0
FKBP3	2287	broad.mit.edu	37	14	45599954	45599954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:45599954G>A	uc010tqf.2	-	1	508	c.158C>T	c.(157-159)aCa>aTa	p.T53I		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	53					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGTTAGCTGTCTTGGCCAC	0.338000														177			90		0	0	0.003610	0	0
TECRL	253017	broad.mit.edu	37	4	65274970	65274970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:65274970G>A	uc003hcv.3	-	0	209	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	TECRL_uc003hcw.3_Missense_Mutation_p.H34Y	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	34					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GACAAAAAGTGAAAATTTCTC	0.413000														31			5		0	0	0.000602	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180726	142180726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142180726C>T	uc011krz.2	-	1	182	c.133G>A	c.(133-135)Gat>Aat	p.D45N	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.D45N|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGTTCATATCCTGGGCACAC	0.512000														484			88		0	0	0.003610	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795722	68795722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:68795722C>T	uc003hdr.1	-	4	487	c.366G>A	c.(364-366)atG>atA	p.M122I	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.M119I	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	122	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ACTGGAACACCATAATGACAT	0.388000														149			195		0	0	0.003610	0	0
OR2D2	120776	broad.mit.edu	37	11	6913093	6913093	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6913093C>T	uc010rau.2	-	0	639	c.639G>A	c.(637-639)ctG>ctA	p.L213L		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F212C(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATACCAGAATCAGAAAAACAG	0.473000														17			7		0	0	0.001984	0	0
NBEA	26960	broad.mit.edu	37	13	35630155	35630155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:35630155G>A	uc021rid.1	+	6	1515	c.981G>A	c.(979-981)atG>atA	p.M327I	NBEA_uc021ric.1_Missense_Mutation_p.M327I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	327						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		aGTGGTACATGATCAGCATTG	0.313000														23			4		0	0	0.009096	0	0
HBP1	26959	broad.mit.edu	37	7	106836293	106836293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:106836293C>T	uc003vdy.3	+	8	1268	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	HBP1_uc011klv.2_Missense_Mutation_p.P371L|HBP1_uc003vdz.3_Missense_Mutation_p.P361L|HBP1_uc003vea.3_Missense_Mutation_p.P361L|HBP1_uc003veb.1_Missense_Mutation_p.P361L	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	361					Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GACTTCACACCTATGGATTCT	0.323000														51			27		0	0	0.007291	0	0
RASL10B	91608	broad.mit.edu	37	17	34067441	34067441	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:34067441C>A	uc002hju.3	+	2	596	c.230C>A	c.(229-231)aCc>aAc	p.T77N		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	77	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGGCAGACACCTGCTGCAGG	0.597000														452			265		2.26023e-93	3.33685e-93	0.003610	1	0
GIMAP7	168537	broad.mit.edu	37	7	150217434	150217434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:150217434G>A	uc003whk.3	+	1	502	c.372G>A	c.(370-372)atG>atA	p.M124I	GIMAP7_uc022apu.1_Missense_Mutation_p.M124I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	124							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCAGCCATGAAGCACATGG	0.517000														230			137		0	0	0.003610	0	0
SHANK1	50944	broad.mit.edu	37	19	51171679	51171679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:51171679C>T	uc002psx.1	-	21	3557	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	SHANK1_uc002psw.1_Missense_Mutation_p.E564K	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1180					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTGGGGGGCTCCGCCTCGGTG	0.756000														162			129		0	0	0.003610	0	0
AKAP9	10142	broad.mit.edu	37	7	91706181	91706181	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:91706181G>T	uc003ulg.3	+	28	6850	c.6625G>T	c.(6625-6627)Gaa>Taa	p.E2209*	AKAP9_uc003ulf.3_Nonsense_Mutation_p.E2201*|AKAP9_uc003uli.3_Nonsense_Mutation_p.E1832*|AKAP9_uc003ulj.3_5'UTR	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2221	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACAAACTTAGAAGAGCAATT	0.254000			T	BRAF	papillary thyroid									12			5		1.23904e-05	1.79851e-05	0.000602	1	0
BPIFC	254240	broad.mit.edu	37	22	32843213	32843213	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:32843213G>A	uc003amn.2	-	2	360	c.360C>T	c.(358-360)ttC>ttT	p.F120F	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	120						extracellular region	lipopolysaccharide binding|phospholipid binding										GTGGAGACTCGAACCCCCAGT	0.453000														123			54		0	0	0.003610	0	0
ADH1C	126	broad.mit.edu	37	4	100268905	100268905	+	RNA	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:100268905A>C	uc021xqi.1	-	1		c.202T>G				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATTTCACCTTAATGCGAACTT	0.328000														39			41		0	0	0.006230	0	0
SMG5	23381	broad.mit.edu	37	1	156252434	156252434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:156252434G>A	uc001foc.4	-	0	187	c.38C>T	c.(37-39)cCc>cTc	p.P13L	TMEM79_uc010phi.2_5'Flank|TMEM79_uc001fod.3_5'Flank|TMEM79_uc009wrw.3_5'Flank	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	13					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTTTGCTTCGGGCTCGCTGCT	0.701000														179			199		0	0	0.003610	0	0
DROSHA	29102	broad.mit.edu	37	5	31526642	31526643	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:31526642_31526643GG>AA	uc003jhg.2	-	3	756_757	c.397_398CC>TT	c.(397-399)cct>TTt	p.P133F	DROSHA_uc003jhh.2_Missense_Mutation_p.P133F|DROSHA_uc003jhi.2_Missense_Mutation_p.P133F|DROSHA_uc010iui.1_Missense_Mutation_p.P124F	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	133	Pro-rich.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.V132V(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGTGCCCCAGGGACTGGGGGG	0.599000														101			17		0	0	0.004672	0	0
FAM65B	9750	broad.mit.edu	37	6	24875982	24875982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:24875982G>A	uc003neo.1	-	1	214	c.38C>T	c.(37-39)cCc>cTc	p.P13L	FAM65B_uc011djs.1_Missense_Mutation_p.P42L|FAM65B_uc011dju.2_Missense_Mutation_p.P47L|FAM65B_uc003nep.3_Missense_Mutation_p.P13L|FAM65B_uc011djt.2_Missense_Mutation_p.P13L	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	13				P -> A (in Ref. 1; AAC51134).	cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GATCCCATTGGGCCCTCCAGG	0.527000														18			8		0	0	0.000978	0	0
ROS1	6098	broad.mit.edu	37	6	117687279	117687279	+	Silent	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:117687279A>G	uc003pxp.1	-	17	2971	c.2772T>C	c.(2770-2772)aaT>aaC	p.N924N	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	924					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGTGAACTGATTAAATCTGG	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									106			204		0	0	0.003610	0	0
ACAN	176	broad.mit.edu	37	15	89403630	89403630	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:89403630C>T	uc010upo.1	+	12	7280	c.6906C>T	c.(6904-6906)tgC>tgT	p.C2302C	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Intron	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2302					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACGTCATATGCCTGTGCCCCC	0.632000														123			71		0	0	0.003610	0	0
DRD5	1816	broad.mit.edu	37	4	9784156	9784156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:9784156C>T	uc003gmb.4	+	0	899	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	168					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGACCTTGTCCATCCTCATC	0.627000														179			305		0	0	0.003610	0	0
APBB1	322	broad.mit.edu	37	11	6424924	6424924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6424924C>T	uc001mdb.1	-	2	950	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	APBB1_uc001mdd.3_Missense_Mutation_p.G64S|APBB1_uc001mdc.1_Missense_Mutation_p.G284S|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.G49S|APBB1_uc009yey.2_Missense_Mutation_p.G25S|APBB1_uc009yfa.2_Missense_Mutation_p.G25S|APBB1_uc010rag.1_Missense_Mutation_p.G25S|APBB1_uc009yfb.2_Missense_Mutation_p.G25S|APBB1_uc001mde.2_Missense_Mutation_p.G25S|APBB1_uc010rah.1_Missense_Mutation_p.G25S	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	284	WW.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GAGGCCCGGCCGGGGGGTTCC	0.652000														302			239		0	0	0.003610	0	0
SYNPO	11346	broad.mit.edu	37	5	150029654	150029654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:150029654C>T	uc003lsn.3	+	2	2923	c.2549C>T	c.(2548-2550)gCt>gTt	p.A850V	SYNPO_uc021yfu.1_Missense_Mutation_p.A850V|SYNPO_uc003lso.4_Missense_Mutation_p.A606V|SYNPO_uc003lsp.3_Missense_Mutation_p.A606V|SYNPO_uc021yfv.1_Missense_Mutation_p.A606V	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	850	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAGGGGGCTCTCCCTCCA	0.687000														190			370		0	0	0.003610	0	0
COL18A1	80781	broad.mit.edu	37	21	46931086	46931086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:46931086C>T	uc002zhi.3	+	39	4316	c.4295C>T	c.(4294-4296)cCc>cTc	p.P1432L	COL18A1_uc002zhg.3_Missense_Mutation_p.P1252L|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_Missense_Mutation_p.P230L|COL18A1_uc002zhk.3_Missense_Mutation_p.P74L	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1667	Triple-helical region 10 (COL10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGCTGAAGCCCGGGGCACGC	0.617000														24			29		0	0	0.003755	0	0
CASKIN1	57524	broad.mit.edu	37	16	2228577	2228577	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2228577C>G	uc010bsg.1	-	19	4302	c.4270G>C	c.(4270-4272)Gac>Cac	p.D1424H		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	1424					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TCCAGCTGGTCGGCCAGGTCG	0.711000														124			86		0	0	0.003610	0	0
NBAS	51594	broad.mit.edu	37	2	15319169	15319169	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:15319169C>A	uc002rcc.1	-	50	6809	c.6783G>T	c.(6781-6783)gaG>gaT	p.E2261D	NBAS_uc002rcb.1_Missense_Mutation_p.E101D|NBAS_uc010exl.1_Missense_Mutation_p.E1333D|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2261										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CATCTCGGCTCTCGAGGAGAA	0.488000														42			35		6.90743e-12	1.00747e-11	0.003755	1	0
MUC16	94025	broad.mit.edu	37	19	9066502	9066502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9066502C>T	uc002mkp.3	-	2	21148	c.20944G>A	c.(20944-20946)Gag>Aag	p.E6982K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6984	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGAGACCTCAGCAGTAGTA	0.483000														77			42		0	0	0.006230	0	0
NBPF3	84224	broad.mit.edu	37	1	21807440	21807440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:21807440G>A	uc001ber.3	+	11	1749	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	NBPF3_uc001bes.3_Missense_Mutation_p.E411K|NBPF3_uc009vqb.3_Missense_Mutation_p.E455K|NBPF3_uc010odm.2_Missense_Mutation_p.E397K	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	467	NBPF 4.|Poly-Glu.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAAGGACCAAGAAGAGGAAGA	0.463000														422			157		0	0	0.003610	0	0
ADCY1	107	broad.mit.edu	37	7	45750222	45750222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:45750222G>A	uc003tne.4	+	18	3046	c.3028G>A	c.(3028-3030)Gat>Aat	p.D1010N		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1010					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAGTCGGATGGATAGCACAGG	0.582000														203			132		0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7583110	7583110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:7583110C>T	uc003mxp.1	+	23	5894	c.5615C>T	c.(5614-5616)tCc>tTc	p.S1872F	DSP_uc003mxq.1_Missense_Mutation_p.S1273F|DSP_uc021yle.1_Missense_Mutation_p.S1429F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1872	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTCAATATTCCCGCAAGGAG	0.453000														281			168		0	0	0.003610	0	0
MUC15	143662	broad.mit.edu	37	11	26584715	26584715	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:26584715C>T	uc001mqw.3	-	3	1146	c.873G>A	c.(871-873)agG>agA	p.R291R	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.R264R|MUC15_uc001mqy.3_Intron	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	264						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AATCCGTTTTCCTTTTTCCAC	0.388000														23			12		0	0	0.001855	0	0
C9orf171	389799	broad.mit.edu	37	9	135374956	135374956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:135374956C>T	uc004cbn.3	+	3	649	c.601C>T	c.(601-603)Cct>Tct	p.P201S	C9orf171_uc004cbo.3_Missense_Mutation_p.P165S	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	201										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GCCCCCTCTCCCTCCAAACAT	0.597000														108			161		0	0	0.003610	0	0
OR56A4	120793	broad.mit.edu	37	11	6024169	6024169	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6024169G>A	uc010qzv.2	-	0	210	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGAAGCAGATGAGGAGGA	0.532000														66			72		0	0	0.003610	0	0
CASR	846	broad.mit.edu	37	3	121994865	121994865	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121994865C>T	uc003eew.4	+	4	2022	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	CASR_uc003eev.4_Silent_p.I528I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	528					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGAGAAAATCCTGTGGAGTG	0.527000														161			116		0	0	0.003610	0	0
NOS1	4842	broad.mit.edu	37	12	117685236	117685236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:117685236C>T	uc001twn.2	-	18	3553	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	NOS1_uc021ren.1_Missense_Mutation_p.E578K|NOS1_uc021reo.1_Missense_Mutation_p.E578K|NOS1_uc001twm.2_Missense_Mutation_p.E914K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	914					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E914K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGATCCTCTCCCCTCCCAGT	0.557000														93			28		0	0	0.005443	0	0
CTSG	1511	broad.mit.edu	37	14	25043610	25043610	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:25043610G>A	uc001wpq.3	-	3	472	c.435C>T	c.(433-435)gcC>gcT	p.A145A		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	145	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGCCCCAGCCGGCCACAGTGC	0.612000														170			79		0	0	0.003610	0	0
OR4C15	81309	broad.mit.edu	37	11	55322738	55322738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55322738C>T	uc010rig.2	+	0	956	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCTGCTTTTTCCCTTGACAAA	0.403000										HNSCC(20;0.049)				37			32		0	0	0.002836	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477280	110477280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:110477280C>T	uc003yne.3	+	48	8323	c.8219C>T	c.(8218-8220)tCt>tTt	p.S2740F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2740					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTGTCTCTTCTGTGCACTTT	0.478000										HNSCC(38;0.096)				45			22		0	0	0.010504	0	0
FAM176C	59271	broad.mit.edu	37	21	33873794	33873794	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:33873794A>C	uc002ypr.1	+	5	1258	c.848A>C	c.(847-849)gAt>gCt	p.D283A	FAM176C_uc010glw.1_Missense_Mutation_p.D283A|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Missense_Mutation_p.D188A	NM_058187	NP_478067	P58658	CU063_HUMAN	Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.	283						integral to membrane	sugar binding										AAGCAGAAAGATGGTGAATAT	0.378000														31			45		0	0	0.003610	0	0
GPR156	165829	broad.mit.edu	37	3	119900021	119900021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:119900021C>T	uc011bjf.2	-	6	1264	c.884G>A	c.(883-885)gGg>gAg	p.G295E	GPR156_uc011bjg.2_Missense_Mutation_p.G291E	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	295						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AACAAAGATCCCTCCAGATGT	0.483000														53			27		0	0	0.005443	0	0
DPYS	1807	broad.mit.edu	37	8	105440328	105440328	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:105440328C>T	uc003yly.4	-	5	1101	c.972G>A	c.(970-972)ggG>ggA	p.G324G		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	324					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGTTATCAGTCCCTGTTGTGG	0.433000														53			24		0	0	0.003954	0	0
CD226	10666	broad.mit.edu	37	18	67614037	67614037	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:67614037G>A	uc010dqo.3	-	1	762	c.315C>T	c.(313-315)taC>taT	p.Y105Y	CD226_uc002lkm.4_Silent_p.Y105Y|CD226_uc021uli.1_Intron	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	105	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGCAGGAATAGTAGCCAACAT	0.418000														59			22		0	0	0.002780	0	0
OR4A47	403253	broad.mit.edu	37	11	48511177	48511177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:48511177C>T	uc010rhx.2	+	0	833	c.833C>T	c.(832-834)cCa>cTa	p.P278L		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTCATAACCCCAATGCTGAAC	0.398000														36			9		0	0	0.004482	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23352044	23352044	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:23352044C>T	uc003swg.3	-	14	1943	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q	IGF2BP3_uc003swf.3_Silent_p.Q178Q	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	559					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GCTGCTTTACCTGAGTCAGAA	0.448000														313			164		0	0	0.003610	0	0
ADA	100	broad.mit.edu	37	20	43257749	43257749	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:43257749C>A	uc002xmj.3	-	2	285	c.157G>T	c.(157-159)Gac>Tac	p.D53Y		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	53					T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	AGCGGCTTGTCCATGCCAATG	0.582000									Adenosine Deaminase Deficiency					428			225		2.98577e-107	4.41228e-107	0.003610	1	0
UNC13C	440279	broad.mit.edu	37	15	54841857	54841857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:54841857G>A	uc021smr.1	+	25	5839	c.5839G>A	c.(5839-5841)Gct>Act	p.A1947T	UNC13C_uc021sms.1_Missense_Mutation_p.A1949T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1949	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCATTGCAGCTAAAGATCT	0.343000														74			30		0	0	0.004878	0	0
AARS	16	broad.mit.edu	37	16	70292955	70292956	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:70292955_70292956GG>AA	uc002eyn.1	-	13	2029_2030	c.1919_1920CC>TT	c.(1918-1920)gcc>gTT	p.A640V	AARS_uc010vlu.1_Missense_Mutation_p.A470V	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	640					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TGGCTCCCTTGGCAGTAAAGTC	0.545000														529			308		0	0	0.004672	0	0
TRO	7216	broad.mit.edu	37	X	54956372	54956372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:54956372C>T	uc004dtq.3	+	11	3322	c.3215C>T	c.(3214-3216)gCc>gTc	p.A1072V	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.A603V|TRO_uc004dtw.3_Missense_Mutation_p.A675V|TRO_uc004dtx.3_Missense_Mutation_p.A455V	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1072	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTTGGCTGTGCCGTCAGCACC	0.567000														10			59		0	0	0.003610	0	0
PLCH1	23007	broad.mit.edu	37	3	155200553	155200553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:155200553C>T	uc021xge.1	-	22	3563	c.3286G>A	c.(3286-3288)Gtt>Att	p.V1096I	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.V1058I	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1096					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGGGTTAACTACAGGATCG	0.498000														617			245		0	0	0.003610	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643346	31643346	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:31643346C>T	uc002wym.1	+	0	117	c.117C>T	c.(115-117)ctC>ctT	p.L39L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	39	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										AGGATGAACTCGGCAAAGGTG	0.572000														332			162		0	0	0.003610	0	0
CACHD1	57685	broad.mit.edu	37	1	65130324	65130324	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:65130324C>T	uc001dbo.1	+	14	2190	c.2085C>T	c.(2083-2085)tcC>tcT	p.S695S	CACHD1_uc001dbp.1_Silent_p.S450S|CACHD1_uc001dbq.1_Silent_p.S450S|CACHD1_uc010opa.1_5'Flank	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	746					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATCCTGGTTCCCTCATGGACA	0.458000														129			48		0	0	0.003610	0	0
SIN3A	25942	broad.mit.edu	37	15	75722576	75722576	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:75722576G>A	uc002bai.3	-	1	400	c.141C>T	c.(139-141)acC>acT	p.T47T	SIN3A_uc002baj.3_Silent_p.T47T|SIN3A_uc010uml.2_Silent_p.T47T|SIN3A_uc002bak.4_Silent_p.T47T	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	47					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTGACTGCATGGTCTCAGACA	0.557000														63			53		0	0	0.003610	0	0
PYGM	5837	broad.mit.edu	37	11	64525731	64525731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64525731G>A	uc001oax.4	-	3	1332	c.515C>T	c.(514-516)tCc>tTc	p.S172F	PYGM_uc001oay.4_Missense_Mutation_p.S84F	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	172					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCAGCCCCCGGAGATCTTCTG	0.552000														682			197		0	0	0.003610	0	0
UBXN10	127733	broad.mit.edu	37	1	20517564	20517565	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:20517564_20517565GG>AA	uc001bdb.3	+	1	594_595	c.510_511GG>AA	c.(508-513)gtggag>gtAAag	p.E171K	UBXN10_uc021oia.1_Missense_Mutation_p.E171K	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	171										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CTTGTGCCGTGGAGAGGAAATT	0.530000														277			192		0	0	0.004672	0	0
TIAM1	7074	broad.mit.edu	37	21	32582404	32582404	+	Missense_Mutation	SNP	C	T	T	rs138815314		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:32582404C>T	uc002yow.1	-	11	2817	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	TIAM1_uc011adk.1_Missense_Mutation_p.R782Q|TIAM1_uc011adl.1_Missense_Mutation_p.R757Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	782	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTCGCCTGGCCGGACGACCGT	0.547000														21			30		0	0	0.006320	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657849	34657849	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:34657849G>A	uc001zig.3	-	1	262	c.168C>T	c.(166-168)atC>atT	p.I56I	LPCAT4_uc010bav.1_Silent_p.I56I	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	56					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GAAAGAGGACGATAAAGGCCA	0.557000														280			223		0	0	0.003610	0	0
ARID3C	138715	broad.mit.edu	37	9	34625778	34625778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:34625778C>T	uc011lon.2	-	1	352	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	118	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCCAGAAATTCCTTCCTCTTG	0.542000														511			304		0	0	0.003610	0	0
CLCN1	1180	broad.mit.edu	37	7	143048977	143048977	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:143048977G>A	uc003wcr.1	+	22	2973	c.2886G>A	c.(2884-2886)ctG>ctA	p.L962L	CLCN1_uc011ktc.1_Silent_p.L574L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	962					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTCCAGGGCTGGAAGAGGAGC	0.642000														450			302		0	0	0.003610	0	0
QPRT	23475	broad.mit.edu	37	16	29708641	29708641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:29708641C>T	uc002dto.3	+	3	881	c.803C>T	c.(802-804)tCc>tTc	p.S268F	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Non-coding_Transcript	NM_014298	NP_055113	Q15274	NADC_HUMAN	Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	268					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GACGTCATCTCCATGGGGATG	0.602000														320			209		0	0	0.003610	0	0
C18orf8	29919	broad.mit.edu	37	18	21099071	21099071	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:21099071A>T	uc021uie.1	+	8	903	c.782A>T	c.(781-783)aAt>aTt	p.N261I	C18orf8_uc010xau.1_Missense_Mutation_p.N104I|C18orf8_uc010xav.1_Missense_Mutation_p.N213I|C18orf8_uc010xaw.1_Missense_Mutation_p.N104I	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	261										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTGAAGTTAAATAGGACGGGA	0.418000														124			79		0	0	0.003610	0	0
GRID1	2894	broad.mit.edu	37	10	87362080	87362080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:87362080C>T	uc001kdl.1	-	15	3081	c.2980G>A	c.(2980-2982)Gga>Aga	p.G994R	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.G565R|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	994						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGGACGCCTCCAGGCACGGGC	0.677000										Multiple Myeloma(13;0.14)				155			98		0	0	0.003610	0	0
MYCBP2	23077	broad.mit.edu	37	13	77725060	77725060	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:77725060A>T	uc021rks.1	-	46	7207	c.6940T>A	c.(6940-6942)Tct>Act	p.S2314T	MYCBP2_uc010aev.3_Missense_Mutation_p.S1680T	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.A2314S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTTCTGAGAAACAGGGACA	0.353000														96			29		0	0	0.009535	0	0
CSMD2	114784	broad.mit.edu	37	1	34033255	34033256	+	Missense_Mutation	DNP	CC	TT	TT	rs144107939		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:34033255_34033256CC>TT	uc001bxm.1	-	52	8494_8495	c.8317_8318GG>AA	c.(8317-8319)ggc>AAc	p.G2773N	CSMD2_uc001bxn.1_Missense_Mutation_p.G2750N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2750	Sushi 19.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGACATGCCGATCAGGCGG	0.559000														58			37		0	0	0.004672	0	0
TNFSF14	8740	broad.mit.edu	37	19	6670004	6670004	+	Missense_Mutation	SNP	C	T	T	rs150431195		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:6670004C>T	uc002mfk.2	-	1	459	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	TNFSF14_uc002mfj.2_Missense_Mutation_p.R26Q	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	26					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCGGTGGCTTCGTCCCAGCCT	0.637000														515			317		0	0	0.003610	0	0
DDX17	10521	broad.mit.edu	37	22	38894509	38894509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:38894509G>A	uc003avy.4	-	3	711	c.608C>T	c.(607-609)cCg>cTg	p.P203L	DDX17_uc003avx.4_Missense_Mutation_p.P203L|DDX17_uc011anu.2_Missense_Mutation_p.P116L	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	124	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					AAGAGCCAACGGAAATCCCTG	0.438000														242			166		0	0	0.003610	0	0
ATG14	22863	broad.mit.edu	37	14	55847310	55847310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:55847310G>A	uc001xbx.2	-	6	1012	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.P213S	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	326					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AGCTTTTTGGGAAGATTTACA	0.403000														36			22		0	0	0.004656	0	0
abParts	0	broad.mit.edu	37	2	90199113	90199113	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:90199113G>A	uc010yts.2	+	35		c.4507G>A								Parts of antibodies, mostly variable regions.																		ATCTGGGACAGATTTCACTCT	0.502000														94			46		0	0	0.003610	0	0
CCDC147	159686	broad.mit.edu	37	10	106118174	106118174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:106118174G>A	uc001kyh.3	+	1	219	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	29										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGTTCTCCATGAACTTTCTGG	0.393000														133			97		0	0	0.003610	0	0
F5	2153	broad.mit.edu	37	1	169484718	169484718	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:169484718C>T	uc001ggg.1	-	23	6637	c.6492G>A	c.(6490-6492)tgG>tgA	p.W2164*		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2164	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATGGTTTCCATTCCACTC	0.438000														106			32		0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179594198	179594198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179594198C>T	uc021vsy.1	-	60	15178	c.14953G>A	c.(14953-14955)Gaa>Aaa	p.E4985K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1646K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5912	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTGACTTCAAACGGAGGT	0.443000														25			17		0	0	0.004007	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900186	4900186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:4900186G>A	uc003snk.3	-	0	1440	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	418					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAATGACTGTGGATTCACATG	0.403000														585			358		0	0	0.003610	0	0
CCR3	1232	broad.mit.edu	37	3	46307643	46307643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46307643C>T	uc003cpl.2	+	2	2124	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	CCR3_uc003cpg.2_Missense_Mutation_p.P332S|CCR3_uc003cpk.2_Missense_Mutation_p.P353S|CCR3_uc003cpi.2_Missense_Mutation_p.P332S|CCR3_uc010hjb.2_Missense_Mutation_p.P350S|CCR3_uc003cpj.2_Missense_Mutation_p.P332S|CCR3_uc021wwz.1_Missense_Mutation_p.P332S	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	332					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)		CCCATTCCTTCCTAGTGAGAA	0.502000														30			14		0	0	0.003163	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948195	119948196	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:119948195_119948196CT>TC	uc010inb.3	+	2	867_868	c.671_672CT>TC	c.(670-672)tct>tTC	p.S224F	SYNPO2_uc010ina.3_Missense_Mutation_p.S224F|SYNPO2_uc003icm.4_Missense_Mutation_p.S224F|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S152F	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	224						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTGAAAAATCTAAGTCTCCTG	0.515000														29			53		0	0	0.004672	0	0
FASN	2194	broad.mit.edu	37	17	80053275	80053275	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:80053275G>A	uc002kdu.3	-	2	318	c.201C>T	c.(199-201)gtC>gtT	p.V67V		NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	67	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCTTGGGGTGGACTCCGAAGA	0.617000														362			233		0	0	0.003610	0	0
MEGF6	1953	broad.mit.edu	37	1	3431121	3431122	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:3431121_3431122GG>AA	uc001akl.3	-	6	1072_1073	c.845_846CC>TT	c.(844-846)gcc>gTT	p.A282V	MEGF6_uc001akk.3_Missense_Mutation_p.A177V	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	282	EGF-like 4.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TACCTTCACAGGCCTTGCCGTC	0.688000														72			43		0	0	0.004672	0	0
C6orf211	79624	broad.mit.edu	37	6	151789520	151789521	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:151789520_151789521GG>AA	uc003qok.1	+	4	860_861	c.601_602GG>AA	c.(601-603)gga>AAa	p.G201K	C6orf211_uc011ees.1_Missense_Mutation_p.G82K	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	201							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TCTCTCAGGTGGAGAAAGTAGT	0.351000														46			93		0	0	0.004672	0	0
SRC	6714	broad.mit.edu	37	20	36022652	36022652	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:36022652C>T	uc002xgx.3	+	6	974	c.525C>T	c.(523-525)ttC>ttT	p.F175F	SRC_uc002xgy.3_Silent_p.F175F	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	175	SH2.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GAGGGACCTTCCTCGTGCGAG	0.557000														436			222		0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149492394	149492394	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:149492394C>T	uc010lpk.3	+	41	6274	c.6274C>T	c.(6274-6276)Ctg>Ttg	p.L2092L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2095	F5/8 type C.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTGCCCTCCTGGGGGCTCC	0.677000														291			177		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106622284	106622284	+	RNA	SNP	G	A	A	rs112834475	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:106622284G>A	uc021ser.1	-	1603		c.31087C>T								Parts of antibodies, mostly variable regions.																		AATATCCTTAGTTCTCCATGA	0.433000														187			130		0	0	0.003610	0	0
ADCY4	196883	broad.mit.edu	37	14	24803709	24803709	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:24803709G>A	uc001wow.3	-	0	569	c.150C>T	c.(148-150)gcC>gcT	p.A50A	ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_Silent_p.A50A|ADCY4_uc001woy.3_Silent_p.A50A|ADCY4_uc001woz.4_Silent_p.A50A	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	50					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCCTGCCGCTGGCCCAGGCCA	0.637000														44			22		0	0	0.005443	0	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128813977	128813977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:128813977G>A	uc003elo.2	-	11	1142	c.887C>T	c.(886-888)tCc>tTc	p.S296F	RAB43_uc021xdo.1_Missense_Mutation_p.P76S|RAB43_uc010hsy.2_Silent_p.F80F|RAB43_uc003eln.2_Silent_p.F80F|RAB43_uc021xdp.1_Silent_p.F80F|RAB43_uc021xdq.1_Silent_p.F80F|RAB43_uc021xdr.1_Silent_p.F80F|RAB43_uc021xds.1_Silent_p.F80F	NM_001204890	NP_001191819	Q9ULR0	ISY1_HUMAN	Homo sapiens ISY1-RAB43 readthrough (ISY1-RAB43), mRNA.	0						catalytic step 2 spliceosome											TGATGGTGCGGAACCGCTCCT	0.582000														220			153		0	0	0.003610	0	0
OR6K2	81448	broad.mit.edu	37	1	158669637	158669637	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:158669637A>C	uc001fsu.1	-	0	806	c.806T>G	c.(805-807)tTg>tGg	p.L269W		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATCCCAGAACAAAGAGTAGGT	0.438000														26			29		0	0	0.007291	0	0
FHOD1	29109	broad.mit.edu	37	16	67264530	67264530	+	Silent	SNP	C	T	T	rs111846078	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:67264530C>T	uc002esl.3	-	17	2944	c.2832G>A	c.(2830-2832)agG>agA	p.R944R	FHOD1_uc010ced.3_Silent_p.R751R	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	944	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGTGCACTATCCTTAGCATGG	0.627000														597			307		0	0	0.003610	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130342957	130342957	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:130342957C>T	uc010scd.2	+	7	2094	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	698	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCTACAATTTCGTGGTGGCCA	0.582000														334			286		0	0	0.003610	0	0
CNPY2	10330	broad.mit.edu	37	12	56705059	56705059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56705059G>A	uc001sku.2	-	3	893	c.344C>T	c.(343-345)tCc>tTc	p.S115F		NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	Homo sapiens canopy 2 homolog (zebrafish) (CNPY2), transcript variant 1, mRNA.	115	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CAGTTCACTGGATTCTCCATT	0.512000														599			174		0	0	0.003610	0	0
PRKCB	5579	broad.mit.edu	37	16	24104192	24104192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:24104192C>T	uc002dmd.3	+	5	807	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	PRKCB_uc002dme.3_Missense_Mutation_p.P204S	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	204	C2.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GATTCCCGATCCCAAAAGTGA	0.423000														99			63		0	0	0.003610	0	0
EXOC6	54536	broad.mit.edu	37	10	94669218	94669218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:94669218G>A	uc010qnr.2	+	6	684	c.541G>A	c.(541-543)Gag>Aag	p.E181K	EXOC6_uc001kie.3_Missense_Mutation_p.E160K|EXOC6_uc001kig.3_Missense_Mutation_p.E165K|EXOC6_uc009xub.3_Missense_Mutation_p.E165K|EXOC6_uc009xuc.3_Missense_Mutation_p.E165K	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	165					protein transport|vesicle docking involved in exocytosis	exocyst		p.M181V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GGAACAATTAGAGAATGTGTA	0.333000														205			97		0	0	0.003610	0	0
ITGB2	3689	broad.mit.edu	37	21	46323291	46323291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:46323291G>A	uc002zgd.2	-	3	532	c.488C>T	c.(487-489)tCc>tTc	p.S163F	ITGB2_uc002zgf.3_Missense_Mutation_p.S163F|ITGB2_uc011afl.1_Missense_Mutation_p.S85F|ITGB2_uc010gpw.2_Intron|ITGB2_uc002zgg.2_Missense_Mutation_p.S163F	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	163	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AATGCGGCCGGACTCGGTGAT	0.592000														195			347		0	0	0.003610	0	0
PCGF3	10336	broad.mit.edu	37	4	758838	758838	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:758838A>T	uc011bva.1	+	10	1142	c.667A>T	c.(667-669)Agg>Tgg	p.R223W	PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Missense_Mutation_p.R223W|PCGF3_uc010ibh.3_Missense_Mutation_p.R223W|PCGF3_uc003gbh.3_Missense_Mutation_p.R189W|PCGF3_uc021xkc.1_5'Flank	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GGTTGTCACTAGGTGGAGATT	0.458000														181			235		0	0	0.003610	0	0
XDH	7498	broad.mit.edu	37	2	31591480	31591480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:31591480G>A	uc002rnv.1	-	18	2106	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	676					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGTGTGTTCCGGGGTGTCAGC	0.478000														134			70		0	0	0.003610	0	0
NLRP10	338322	broad.mit.edu	37	11	7981382	7981382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:7981382C>T	uc001mfv.1	-	1	1794	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	593							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATTTCTTTTCATTTGAATGT	0.368000														91			52		0	0	0.003610	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821747	5821747	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:5821747C>T	uc010ndi.3	-	5	1547	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	NLGN4X_uc004crp.3_Silent_p.K344K|NLGN4X_uc010ndh.3_Silent_p.K324K|NLGN4X_uc004crq.3_Silent_p.K324K|NLGN4X_uc004crr.3_Silent_p.K324K|NLGN4X_uc010ndj.3_Silent_p.K324K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	324					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGATGAGCTCCTTGTAGTTCT	0.592000														88			200		0	0	0.003610	0	0
HTR1D	3352	broad.mit.edu	37	1	23520573	23520574	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:23520573_23520574AC>TT	uc001bgn.3	-	0	649_650	c.139_140GT>AA	c.(139-141)gtc>AAc	p.V47N		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	47					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGTGTGATGACGGAAAGGACC	0.574000														304			170		0	0	0.004672	0	0
MEP1B	4225	broad.mit.edu	37	18	29795084	29795084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:29795084G>A	uc002kxj.4	+	11	1666	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	540	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCTAAAGTGGGAACAGTGGCT	0.408000														186			86		0	0	0.003610	0	0
BCAR3	8412	broad.mit.edu	37	1	94049648	94049648	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:94049648G>A	uc001dpz.3	-	5	1235	c.960C>T	c.(958-960)gcC>gcT	p.A320A	BCAR3_uc001dqa.3_Silent_p.A320A|BCAR3_uc001dqb.3_Silent_p.A320A|BCAR3_uc001dpx.4_5'UTR|BCAR3_uc001dpy.3_Silent_p.A229A|BCAR3_uc009wdm.1_5'UTR	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	320					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	p.P319P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GATCCAGGCAGGCGGGCTGGC	0.458000														209			129		0	0	0.003610	0	0
ZNF365	22891	broad.mit.edu	37	10	64135994	64135994	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:64135994G>A	uc001jmc.2	+	1	357	c.42G>A	c.(40-42)caG>caA	p.Q14Q	ZNF365_uc001jly.4_Silent_p.Q29Q|ZNF365_uc001jmb.4_Silent_p.Q14Q|ZNF365_uc001jlz.4_Silent_p.Q14Q|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATCCCTGGCAGGAGTCCTTTG	0.493000														398			226		0	0	0.003610	0	0
TTC40	54777	broad.mit.edu	37	10	134626288	134626288	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:134626288C>T	uc021qbc.1	-	55	7602	c.7501_splice	c.e55+1	p.E2501_splice		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	662										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACACCTCTCACCTTGCAAGTT	0.612000														408			252		0	0	0.003610	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198498228	198498228	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:198498228G>A	uc009wzd.3	-	2	219	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ATP6V1G3_uc001gup.3_Nonsense_Mutation_p.R56*|ATP6V1G3_uc001guo.3_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	56					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TGTTTTAGTCGAAACTCTTTA	0.338000														37			15		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179595694	179595694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179595694C>T	uc021vsy.1	-	56	14191	c.13966G>A	c.(13966-13968)Gat>Aat	p.D4656N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1317N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5583	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCCAACATCATTTTGGACC	0.373000														63			42		0	0	0.002522	0	0
INADL	10207	broad.mit.edu	37	1	62503682	62503682	+	Silent	SNP	T	A	A	rs35421196		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:62503682T>A	uc001dab.3	+	29	4107	c.3993T>A	c.(3991-3993)acT>acA	p.T1331T	INADL_uc009waf.1_Silent_p.T1331T|INADL_uc001daa.2_Silent_p.T1331T|INADL_uc001dad.3_Silent_p.T1028T|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Silent_p.T115T|INADL_uc009wag.3_Silent_p.T115T|INADL_uc010oou.1_Silent_p.T4T	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1331					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGGCCGTTACTCCCTTTCCAG	0.388000														55			24		0	0	0.006320	0	0
ZFP64	55734	broad.mit.edu	37	20	50715040	50715040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:50715040G>A	uc002xwk.3	-	5	1199	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	ZFP64_uc002xwj.3_Missense_Mutation_p.P65S	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCTCTGAGGGAAGAGTGATG	0.512000														305			192		0	0	0.003610	0	0
RDH12	145226	broad.mit.edu	37	14	68191301	68191301	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:68191301T>C	uc001xjz.4	+	3	504	c.180T>C	c.(178-180)gcT>gcC	p.A60A		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	60					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GAGAGCTCGCTAGCCGAGGTA	0.557000														180			97		0	0	0.003610	0	0
DYTN	391475	broad.mit.edu	37	2	207527786	207527786	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:207527786G>C	uc002vbr.1	-	10	1591	c.1474C>G	c.(1474-1476)Ccc>Gcc	p.P492A		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	492						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ACCATTTTGGGGATGTCCTGC	0.502000														53			24		0	0	0.002299	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764321	140764321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:140764321G>A	uc003lka.2	+	0	1855	c.1855G>A	c.(1855-1857)Gtt>Att	p.V619I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.V619I	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTTTGCGGTTGGGCTGTA	0.642000														109			243		0	0	0.003610	0	0
AK2	204	broad.mit.edu	37	1	33487220	33487220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:33487220G>A	uc001bwp.2	-	2	387	c.304C>T	c.(304-306)Cct>Tct	p.P102S	BC036308_uc001bwn.3_Intron|AK2_uc001bwq.2_Missense_Mutation_p.P54S|AK2_uc010ohq.2_Missense_Mutation_p.P102S|AK2_uc001bwo.2_Missense_Mutation_p.P102S|AK2_uc009vud.2_Missense_Mutation_p.P60S|AK2_uc010ohr.2_Missense_Mutation_p.P54S	NM_001625	NP_001616	P54819	KAD2_HUMAN	Homo sapiens adenylate kinase 2 (AK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	102					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	ATP binding|adenylate kinase activity			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACAGTCCGAGGGAAGCCATCC	0.418000														98			42		0	0	0.003610	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999261	143999261	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:143999261A>G	uc003yxk.1	-	1	1	c.-2_splice	c.e1-1			NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.						aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGCCATTCCAATGCTCCCTCC	0.607000									Familial Hyperaldosteronism type I					559			308		0	0	0.003610	0	0
QDPR	5860	broad.mit.edu	37	4	17503480	17503480	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:17503480G>T	uc003gpd.3	-	3	478	c.298C>A	c.(298-300)Ctc>Atc	p.L100I	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Missense_Mutation_p.L69I	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	100					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TTCTTAAAGAGAGCTGAGTGA	0.522000														153			200		4.13848e-90	6.10679e-90	0.003610	1	0
UGT2A3	79799	broad.mit.edu	37	4	69798472	69798472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:69798472C>T	uc003hef.2	-	2	901	c.870G>A	c.(868-870)atG>atA	p.M290I	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	290						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATTTTCCATTTCCTGAA	0.303000														67			10		0	0	0.006214	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430981	37430981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:37430981G>A	uc021ppc.1	+	6	1087	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E330K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	386						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATCGCATGGGAGAAAAAAGA	0.438000														135			60		0	0	0.003610	0	0
PPFIA3	8541	broad.mit.edu	37	19	49633253	49633253	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49633253C>T	uc002pmr.3	+	5	918	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Silent_p.L120L|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.L64L	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	196						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTTCCAGACTCTGAACCTTCG	0.607000														390			319		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9074523	9074523	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9074523C>A	uc002mkp.3	-	2	13127	c.12923G>T	c.(12922-12924)gGa>gTa	p.G4308V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4310	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCTGAAGTCCCTGGTTCAC	0.512000														21			15		6.31663e-08	9.19086e-08	0.003163	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121651045	121651045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:121651045G>A	uc003vjy.3	+	11	2340	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	PTPRZ1_uc011knt.2_Missense_Mutation_p.E649K|PTPRZ1_uc003vjz.3_Missense_Mutation_p.E649K	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	649					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCCTTCTATGGAGGGAAATGT	0.423000														32			11		0	0	0.000978	0	0
SPAG17	200162	broad.mit.edu	37	1	118534050	118534050	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:118534050G>A	uc001ehk.2	-	36	5531	c.5463C>T	c.(5461-5463)ctC>ctT	p.L1821L	SPAG17_uc021osr.1_Silent_p.L331L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1821						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACCAGCTTGAGGAGATCAG	0.363000														16			10		0	0	0.008291	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930493	31930493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:31930493C>T	uc003nyn.1	+	11	1603	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	SKIV2L_uc011dou.1_Missense_Mutation_p.S247F|SKIV2L_uc011dov.1_Missense_Mutation_p.S212F	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	405	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTCCCCAGCTCCATGCTGTAC	0.557000														569			402		0	0	0.003610	0	0
C12orf5	57103	broad.mit.edu	37	12	4446225	4446225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:4446225C>T	uc001qmp.3	+	2	170	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	Homo sapiens chromosome 12 open reading frame 5 (C12orf5), mRNA.	31						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AGATGAACCTCTTTCAGAAAC	0.343000														120			40		0	0	0.002522	0	0
BSG	682	broad.mit.edu	37	19	577991	577991	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:577991C>T	uc002loz.3	+	1	383	c.285C>T	c.(283-285)atC>atT	p.I95I	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002lpa.3_Intron|BSG_uc002lpc.3_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	95					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATCTCCATCGACACGCTCG	0.692000														181			131		0	0	0.003610	0	0
KSR2	283455	broad.mit.edu	37	12	117977675	117977675	+	Silent	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:117977675A>T	uc001two.2	-	9	1504	c.1449T>A	c.(1447-1449)ccT>ccA	p.P483P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	512					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGCTGGTAAGGGACAGGGA	0.637000														140			32		0	0	0.007835	0	0
RPL18	6141	broad.mit.edu	37	19	49119171	49119171	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49119171A>T	uc002pjq.1	-	5	487	c.454T>A	c.(454-456)Ttc>Atc	p.F152I	FAM83E_uc002pjn.2_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.	152					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GCCTTGCCGAAATGCCGGTAC	0.667000														118			87		0	0	0.003610	0	0
POLDIP3	84271	broad.mit.edu	37	22	42981923	42981924	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42981923_42981924CC>TT	uc011apq.2	-	8	1289_1290	c.1190_1191GG>AA	c.(1189-1191)agg>aAA	p.R397K	POLDIP3_uc011app.2_3'UTR|POLDIP3_uc011apr.2_Non-coding_Transcript|POLDIP3_uc003bcu.3_Missense_Mutation_p.R380K|POLDIP3_uc003bcv.3_Missense_Mutation_p.R351K|POLDIP3_uc010gza.3_Non-coding_Transcript	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	380					positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CAGAGTTCACCCTGCGAGGCAG	0.554000														235			150		0	0	0.004672	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413138	105413138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:105413138C>T	uc010axc.1	-	6	8770	c.8650G>A	c.(8650-8652)Ggc>Agc	p.G2884S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G2784S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2884						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAACGTGGCCCTCTGGGAGT	0.612000														607			341		0	0	0.003610	0	0
UNC13D	201294	broad.mit.edu	37	17	73836021	73836021	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:73836021C>T	uc002jpp.3	-	11	1334	c.954G>A	c.(952-954)gcG>gcA	p.A318A	UNC13D_uc010wsk.1_Silent_p.A318A|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Silent_p.A115A	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	318	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTGCTTCCCGCCTGAGGGG	0.667000									Familial Hemophagocytic Lymphohistiocytosis					299			200		0	0	0.003610	0	0
RHAG	6005	broad.mit.edu	37	6	49585872	49585872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:49585872C>T	uc003ozk.4	-	2	463	c.401G>A	c.(400-402)gGa>gAa	p.G134E	RHAG_uc010jzl.3_Missense_Mutation_p.G134E|RHAG_uc010jzm.3_Missense_Mutation_p.G134E	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	134					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GCTCGTTTTTCCCAGGACAGC	0.393000														107			42		0	0	0.007835	0	0
HSPA12B	116835	broad.mit.edu	37	20	3725616	3725616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:3725616G>A	uc002wjd.3	+	4	476	c.334G>A	c.(334-336)Gag>Aag	p.E112K	HSPA12B_uc010zqj.2_5'UTR|HSPA12B_uc010zqi.2_Missense_Mutation_p.E112K|HSPA12B_uc002wje.3_Missense_Mutation_p.E25K	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	112							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GCTGACTCCGGAGGGCGCCTT	0.642000														601			335		0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31305303	31305303	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:31305303A>T	uc003jhe.2	+	6	1382	c.1022A>T	c.(1021-1023)aAa>aTa	p.K341I	CDH6_uc003jhd.2_Missense_Mutation_p.K341I	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	341	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAAAGAAGAAAGTGTATACC	0.438000														54			5		0	0	0.001984	0	0
KRT4	3851	broad.mit.edu	37	12	53202120	53202120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:53202120C>T	uc001saz.3	-	5	1305	c.1305G>A	c.(1303-1305)atG>atA	p.M435I		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	361						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCCTCTGGATCATCCTGTTGA	0.537000														307			63		0	0	0.003610	0	0
LOC100133308	100133308	broad.mit.edu	37	10	45602557	45602558	+	RNA	DNP	AC	CT	CT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:45602557_45602558AC>CT	uc001jby.3	-	0		c.879_880GT>AG			LOC100133308_uc001jbz.3_Intron|LOC100133308_uc009xmq.2_Intron					Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA.																		CAATATATAAACAGGGTGGCAT	0.441000														13			14		0	0	0.004672	0	0
SPAG17	200162	broad.mit.edu	37	1	118548078	118548079	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:118548078_118548079CC>TT	uc001ehk.2	-	31	4802_4803	c.4734_4735GG>AA	c.(4732-4737)gaggtt>gaAAtt	p.V1579I	SPAG17_uc021osr.1_Missense_Mutation_p.V89I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1579						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACAGATAACCTCTGAAGTAT	0.455000														31			15		0	0	0.004672	0	0
MYH7	4625	broad.mit.edu	37	14	23887503	23887503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:23887503G>A	uc001wjx.3	-	29	4191	c.4085C>T	c.(4084-4086)tCc>tTc	p.S1362F	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1362					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGGCCTTGGAAAGGACGCG	0.652000														360			260		0	0	0.003610	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171856	146171856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:146171856C>T	uc021xfa.1	-	6	1075	c.635G>A	c.(634-636)aGa>aAa	p.R212K	PLSCR2_uc003evw.2_Missense_Mutation_p.R208K|PLSCR2_uc003evv.2_Missense_Mutation_p.R139K	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	139					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.A211P(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TACATCCTCTCTTTTCTGATT	0.383000														45			38		0	0	0.006230	0	0
SGSM1	129049	broad.mit.edu	37	22	25294154	25294154	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:25294154C>T	uc003abg.2	+	19	2560	c.2403C>T	c.(2401-2403)ccC>ccT	p.P801P	SGSM1_uc010guu.1_Silent_p.P746P|SGSM1_uc003abh.2_Silent_p.P740P|SGSM1_uc003abj.2_Silent_p.P685P|SGSM1_uc003abi.1_Silent_p.P721P	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	801	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGAACACCCCCACGGTGCTGC	0.632000														259			125		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604068	54604068	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:54604068G>A	uc003dhf.3	+	7	873	c.825G>A	c.(823-825)gcG>gcA	p.A275A	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.A181A|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.A9A	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	275	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGACTATCGCGAAGCAAACAG	0.473000														103			45		0	0	0.008740	0	0
PTTG2	10744	broad.mit.edu	37	4	37962566	37962566	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:37962566T>G	uc011bye.2	+	0	511	c.511T>G	c.(511-513)Tct>Gct	p.S171A	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	171					DNA metabolic process|chromosome organization	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						GAAAATGCCCTCTCCACCATG	0.488000														252			113		0	0	0.003610	0	0
MAGI2	9863	broad.mit.edu	37	7	77973208	77973208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:77973208C>T	uc003ugx.3	-	8	1549	c.1295G>A	c.(1294-1296)aGc>aAc	p.S432N	MAGI2_uc003ugy.3_Missense_Mutation_p.S432N|MAGI2_uc010ldx.1_Missense_Mutation_p.S41N|MAGI2_uc010ldy.1_Missense_Mutation_p.S41N|MAGI2_uc011kgr.1_Missense_Mutation_p.S264N|MAGI2_uc011kgs.1_Missense_Mutation_p.S269N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	432	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCCCATGTTGCTCTTTTTTAG	0.463000														75			28		0	0	0.005443	0	0
FGFR3	2261	broad.mit.edu	37	4	1808928	1808928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:1808928C>T	uc003gdr.3	+	17	2616	c.2360C>T	c.(2359-2361)tCc>tTc	p.S787F	FGFR3_uc003gdu.2_Missense_Mutation_p.S789F|FGFR3_uc003gds.3_Missense_Mutation_p.S675F|FGFR3_uc003gdq.3_Silent_p.L764L	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	787					JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S787S(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGGGACGACTCCGTGTTTGCC	0.692000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					113			34		0	0	0.005524	0	0
PDE1C	5137	broad.mit.edu	37	7	32209401	32209401	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:32209401A>G	uc003tco.2	-	2	340	c.304T>C	c.(304-306)Ttc>Ctc	p.F102L		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	42					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCAAACCTGAAGGATGTCTTC	0.468000														32			15		0	0	0.006122	0	0
WNT3A	89780	broad.mit.edu	37	1	228210433	228210433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:228210433C>T	uc001hrp.2	+	1	244	c.137C>T	c.(136-138)cCg>cTg	p.P46L	WNT3A_uc001hrq.2_Missense_Mutation_p.P46L	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	46					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCAGCATCCCGGGCCTGGTC	0.642000														368			166		0	0	0.003610	0	0
MYT1L	23040	broad.mit.edu	37	2	1983293	1983293	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:1983293C>T	uc002qxe.3	-	7	916	c.89_splice	c.e7+1	p.S30_splice	MYT1L_uc002qxd.3_Splice_Site_p.S30_splice	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	30					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCACTAACCTGAACAGCTC	0.458000														142			55		0	0	0.003610	0	0
FAM177B	400823	broad.mit.edu	37	1	222919938	222919938	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:222919938C>T	uc001hnt.3	+	2	317	c.51C>T	c.(49-51)tcC>tcT	p.S17S	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	17										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						GTGTACCTTCCAAAAAGACTA	0.413000														71			18		0	0	0.006122	0	0
MLL	4297	broad.mit.edu	37	11	118373290	118373290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:118373290C>T	uc001pta.3	+	26	6697	c.6674C>T	c.(6673-6675)tCc>tTc	p.S2225F	MLL_uc001ptb.3_Missense_Mutation_p.S2228F	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2225					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)		AATAATGTTTCCTCAGTCTCC	0.468000			"""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"""									77			78		0	0	0.003610	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:63453898C>T	uc001xfx.3	-	4	492	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_uc001xfy.3_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.3_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000														31			13		0	0	0.001368	0	0
LOC146481	146481	broad.mit.edu	37	16	34712344	34712344	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:34712344G>A	uc002edx.3	-	1		c.1011C>T			LOC146481_uc010vgd.1_Non-coding_Transcript					Homo sapiens FSHD region gene 2 family, member C pseudogene (LOC146481), non-coding RNA.																		TTCTTAGCAGGGAAGACATAA	0.567000														35			10		0	0	0.006214	0	0
BAI3	577	broad.mit.edu	37	6	69684752	69684752	+	Silent	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:69684752C>A	uc010kak.3	+	7	1899	c.1623C>A	c.(1621-1623)gcC>gcA	p.A541A	BAI3_uc003pev.4_Silent_p.A541A	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	541					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCCTGAATGCCACAGGTACAG	0.453000														28			4		3.59834e-05	5.2181e-05	0.001168	1	0
SYT6	148281	broad.mit.edu	37	1	114682401	114682401	+	Silent	SNP	C	T	T	rs139973136	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:114682401C>T	uc021osa.1	-	1	426	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SYT6_uc021orz.1_Silent_p.A31A|SYT6_uc001eev.3_Silent_p.A31A	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	116					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		TCAGCTTGTCCGCCATGTTGC	0.617000														419			246		0	0	0.003610	0	0
AP3B2	8120	broad.mit.edu	37	15	83349745	83349746	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:83349745_83349746GG>AA	uc010uoi.2	-	6	791_792	c.614_615CC>TT	c.(613-615)gcc>gTT	p.A205V	AP3B2_uc010uoh.2_Missense_Mutation_p.A205V|AP3B2_uc010uoj.2_Missense_Mutation_p.A173V|AP3B2_uc010uog.2_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	205					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTCCTCAAAGGCCATCACCAC	0.614000														336			132		0	0	0.004672	0	0
ANK3	288	broad.mit.edu	37	10	61848032	61848032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:61848032G>A	uc001jky.3	-	28	3751	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	ANK3_uc001jkw.3_Missense_Mutation_p.S272F|ANK3_uc009xpa.3_Missense_Mutation_p.S272F|ANK3_uc001jkx.3_Missense_Mutation_p.S316F|ANK3_uc010qih.2_Missense_Mutation_p.S1139F|ANK3_uc001jkz.4_Missense_Mutation_p.S1132F|ANK3_uc001jla.1_Missense_Mutation_p.S204F|ANK3_uc001jlb.1_Missense_Mutation_p.S656F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1138					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTAATCCGGGAAACCACTGC	0.468000														51			17		0	0	0.008871	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561641	84561641	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:84561641G>A	uc002bjz.4	+	13	1691	c.1467_splice	c.e13+1	p.Q489_splice	ADAMTSL3_uc010bmt.1_Splice_Site_p.Q489_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	489	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGGTCTCAGGTAAGATTTGA	0.398000														32			14		0	0	0.001855	0	0
ZEB1	6935	broad.mit.edu	37	10	31810320	31810320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:31810320C>T	uc001ivs.4	+	6	2120	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	ZEB1_uc001ivr.4_Missense_Mutation_p.S468F|ZEB1_uc010qef.2_Missense_Mutation_p.S468F|ZEB1_uc009xlj.1_Missense_Mutation_p.S612F|ZEB1_uc010qeg.1_Missense_Mutation_p.S545F|ZEB1_uc009xlk.1_Missense_Mutation_p.S468F|ZEB1_uc001ivu.4_Missense_Mutation_p.S687F|ZEB1_uc010qeh.2_Missense_Mutation_p.S619F|ZEB1_uc001ivv.4_Missense_Mutation_p.S666F|ZEB1_uc001ivt.4_Missense_Mutation_p.S468F|ZEB1_uc009xlo.2_Missense_Mutation_p.S669F|ZEB1_uc009xlp.3_Missense_Mutation_p.S670F	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	686					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGACTAACTCCCCAGTTTTA	0.443000														15			6		0	0	0.001168	0	0
MYH11	4629	broad.mit.edu	37	16	15870018	15870018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:15870018G>A	uc002ddx.3	-	8	934	c.827C>T	c.(826-828)tCa>tTa	p.S276L	MYH11_uc002ddv.3_Missense_Mutation_p.S276L|MYH11_uc002ddw.3_Missense_Mutation_p.S269L|MYH11_uc002ddy.3_Missense_Mutation_p.S269L|MYH11_uc010bvg.3_Missense_Mutation_p.S101L|MYH11_uc002dea.1_5'UTR	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	269	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AATTGCCCGTGATTTTTCTAG	0.493000			T	CBFB	AML									265			139		0	0	0.003610	0	0
RGS22	26166	broad.mit.edu	37	8	101018276	101018276	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:101018276A>G	uc003yjb.1	-	15	2618	c.2423T>C	c.(2422-2424)tTg>tCg	p.L808S	RGS22_uc003yja.1_Missense_Mutation_p.L627S|RGS22_uc003yjc.1_Missense_Mutation_p.L796S|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.L197S	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	808					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTCTTTATGCAAAGCCTGTAG	0.383000														26			19		0	0	0.002299	0	0
OR1J1	347168	broad.mit.edu	37	9	125239279	125239279	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:125239279G>A	uc011lyu.2	-	0	927	c.927C>T	c.(925-927)ggC>ggT	p.G309G	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						gagccactgcgcctgaccTAC	0.488000														15			20		0	0	0.007413	0	0
ZNF562	54811	broad.mit.edu	37	19	9764094	9764094	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9764094T>C	uc002mly.3	-	5	1028	c.812A>G	c.(811-813)aAt>aGt	p.N271S	ZNF562_uc010xks.2_Missense_Mutation_p.N271S|ZNF562_uc002mlx.3_Missense_Mutation_p.N199S|ZNF562_uc010xkt.2_Missense_Mutation_p.N234S|ZNF562_uc010xku.2_Missense_Mutation_p.N202S|ZNF562_uc010xkv.1_Missense_Mutation_p.N270S|ZNF562_uc010xkw.1_Missense_Mutation_p.N155S	NM_001130031	NP_001123504	Q6V9R5	ZN562_HUMAN	Homo sapiens zinc finger protein 562 (ZNF562), transcript variant 1, mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGAGAAAAATTAGTGAAGGA	0.373000														107			33		0	0	0.002096	0	0
MCM2	4171	broad.mit.edu	37	3	127323849	127323849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:127323849G>A	uc003ejp.3	+	3	580	c.523G>A	c.(523-525)Gag>Aag	p.E175K	MCM2_uc011bkm.2_Missense_Mutation_p.E45K|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.E59K	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	175	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CGAGAACCTGGAGGATCTCAA	0.667000														298			198		0	0	0.003610	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128616	55128616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:55128616G>A	uc003pcl.3	+	3	1073	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R188Q	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	253					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R253Q(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCTGGTGTCGACAGGTATAT	0.368000														7			4		0	0	0.009096	0	0
MAPK6	5597	broad.mit.edu	37	15	52356190	52356190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:52356190G>A	uc002abp.3	+	5	1953	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	387					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AGCTCTGTCCGATGTCACTGA	0.393000														52			36		0	0	0.002836	0	0
X97876	0	broad.mit.edu	37	9	66499739	66499739	+	Silent	SNP	G	A	A	rs150502168	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:66499739G>A	uc004aee.1	+	0	549	c.549G>A	c.(547-549)ccG>ccA	p.P183P	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GCCTGGGACCGTCCATTTTCG	0.602000														468			67		0	0	0.003610	0	0
FAM71A	149647	broad.mit.edu	37	1	212799806	212799806	+	RNA	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:212799806C>T	uc010pth.1	-	0		c.308G>A			FAM71A_uc001hjk.3_Silent_p.F529F			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCAGCTCTTTCCTGAGGAACG	0.547000														187			211		0	0	0.003610	0	0
PLCH1	23007	broad.mit.edu	37	3	155200085	155200085	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:155200085G>A	uc021xge.1	-	22	4031	c.3754C>T	c.(3754-3756)Ctg>Ttg	p.L1252L	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.L1214L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1252					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATGAGCACAGGAAGGAAGAC	0.473000														246			160		0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802647	185802647	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:185802647T>C	uc002uph.3	+	3	3118	c.2524T>C	c.(2524-2526)Tta>Cta	p.L842L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	842						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAATTCTTCCTTAAATCCTCT	0.353000														59			44		0	0	0.003214	0	0
IL1R1	3554	broad.mit.edu	37	2	102792979	102792980	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:102792979_102792980GG>AA	uc002tbq.3	+	11	1788_1789	c.1470_1471GG>AA	c.(1468-1473)ctggag>ctAAag	p.E491K	IL1R1_uc010fix.3_Missense_Mutation_p.E460K|IL1R1_uc002tbr.3_Missense_Mutation_p.E491K	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	491	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TGCTTGAGCTGGAGAAAATCCA	0.441000														79			45		0	0	0.004672	0	0
KRT15	3866	broad.mit.edu	37	17	39671830	39671830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:39671830C>T	uc002hwy.3	-	5	1332	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	KRT15_uc002hwz.3_Missense_Mutation_p.E283K|KRT15_uc002hxa.3_Missense_Mutation_p.E216K|KRT15_uc002hxb.1_Missense_Mutation_p.E216K	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	381	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GCCTCCATCTCGCATCGGAGC	0.602000														319			204		0	0	0.003610	0	0
ADAM28	10863	broad.mit.edu	37	8	24193057	24193057	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:24193057C>T	uc003xdy.3	+	13	1553	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	ADAM28_uc003xdx.3_Silent_p.F490F|ADAM28_uc011kzz.2_Silent_p.F257F|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.F177F	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	490	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGATAGATTCCAAGTCAATG	0.512000														24			11		0	0	0.001855	0	0
CUBN	8029	broad.mit.edu	37	10	17153034	17153034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:17153034C>T	uc001ioo.3	-	8	951	c.899G>A	c.(898-900)gGa>gAa	p.G300E		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	300	EGF-like 3; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCAAATATATCCATTGCCTTG	0.408000														94			67		0	0	0.003610	0	0
ZNF808	388558	broad.mit.edu	37	19	53056804	53056804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:53056804C>T	uc010epq.1	+	4	812	c.635C>T	c.(634-636)cCc>cTc	p.P212L	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGGAATAATCCCCTGAATTCT	0.393000														341			188		0	0	0.003610	0	0
A1CF	29974	broad.mit.edu	37	10	52575934	52575934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:52575934C>T	uc001jjj.3	-	8	1161	c.973G>A	c.(973-975)Gga>Aga	p.G325R	A1CF_uc010qho.2_Missense_Mutation_p.G333R|A1CF_uc010qhn.2_Missense_Mutation_p.G333R|A1CF_uc009xov.3_Missense_Mutation_p.G325R|A1CF_uc001jji.3_Missense_Mutation_p.G325R|A1CF_uc001jjh.3_Missense_Mutation_p.G333R	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	325					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTATACTCTCCTTGCAGCATG	0.522000														17			3		0	0	0.004672	0	0
PDE7B	27115	broad.mit.edu	37	6	136502373	136502374	+	Nonsense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:136502373_136502374GA>AT	uc003qgp.3	+	10	1260_1261	c.957_958GA>AT	c.(955-960)ttgaag>ttATag	p.K320*	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Nonsense_Mutation_p.K372*	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	320	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AGATCGCCTTGAAGTGTGCTGA	0.465000														116			183		0	0	0.004672	0	0
NUF2	83540	broad.mit.edu	37	1	163298690	163298690	+	Silent	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:163298690A>T	uc001gcq.1	+	4	630	c.330A>T	c.(328-330)ctA>ctT	p.L110L	NUF2_uc001gcr.1_Silent_p.L110L	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	110	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTGATATTCTATGTCCAAGTA	0.328000														139			182		0	0	0.003610	0	0
TGM6	343641	broad.mit.edu	37	20	2411208	2411208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:2411208G>A	uc002wfy.1	+	10	1856	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	TGM6_uc010gal.1_Missense_Mutation_p.E599K	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	599					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTCTGGTGGAGAAGGACAT	0.493000														65			39		0	0	0.002522	0	0
DAG1	1605	broad.mit.edu	37	3	49548071	49548072	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:49548071_49548072CC>TT	uc021wxz.1	+	1	573_574	c.104_105CC>TT	c.(103-105)ccc>cTT	p.P35L	DAG1_uc021wya.1_Missense_Mutation_p.P35L|DAG1_uc021wyb.1_Missense_Mutation_p.P35L|DAG1_uc021wyc.1_Missense_Mutation_p.P35L|DAG1_uc021wyd.1_Missense_Mutation_p.P35L|DAG1_uc021wye.1_Missense_Mutation_p.P35L|DAG1_uc021wyf.1_Missense_Mutation_p.P35L|DAG1_uc021wyg.1_Missense_Mutation_p.P35L|DAG1_uc021wyh.1_Missense_Mutation_p.P35L|DAG1_uc021wyi.1_Missense_Mutation_p.P35L|DAG1_uc021wyj.1_Missense_Mutation_p.P35L|DAG1_uc021wyk.1_Missense_Mutation_p.P35L|DAG1_uc003cxc.4_Missense_Mutation_p.P35L	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	35	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCCAGTGAACCCTCAGAGGCTG	0.599000														111			48		0	0	0.004672	0	0
FPR1	2357	broad.mit.edu	37	19	52250226	52250226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:52250226G>A	uc021uyn.1	-	2	168	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	FPR1_uc002pxq.3_Missense_Mutation_p.P8S|FPR1_uc021uyo.1_Missense_Mutation_p.P8S	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	8					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	ATGTTCGTGGGGAGAGAGGAA	0.493000														14			6		0	0	0.001168	0	0
COL27A1	85301	broad.mit.edu	37	9	117070023	117070024	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:117070023_117070024GG>AT	uc011lxl.2	+	58	5182_5183	c.5182_5183GG>AT	c.(5182-5184)gga>ATa	p.G1728I	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.G43I	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1728	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACTCATGGTGGACAGACGTGT	0.609000														70			143		0	0	0.004672	0	0
DNAH7	56171	broad.mit.edu	37	2	196759768	196759768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:196759768C>T	uc002utj.4	-	29	4929	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1610	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAAATGGTTCTCCAACAATC	0.333000														27			19		0	0	0.006122	0	0
FUT3	2525	broad.mit.edu	37	19	5843807	5843807	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:5843807G>A	uc002mdk.2	-	1	1141	c.1044C>T	c.(1042-1044)tcC>tcT	p.S348S	FUT3_uc002mdm.2_Silent_p.S348S|FUT3_uc002mdj.2_Silent_p.S348S|FUT3_uc002mdl.2_Silent_p.S348S|FUT3_uc021unn.1_Silent_p.S348S	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	348					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCTGGTACCTGGATTCCTGCT	0.637000														373			272		0	0	0.003610	0	0
ZNF782	158431	broad.mit.edu	37	9	99582013	99582013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:99582013C>T	uc004awp.1	-	5	573	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	ZNF782_uc011lup.1_5'UTR	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AAATGTTTGCCTTGATTTTCT	0.313000														11			21		0	0	0.002299	0	0
UGGT2	55757	broad.mit.edu	37	13	96589279	96589279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:96589279C>T	uc001vmt.3	-	16	2046	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	626					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTAAAGGGTTCACCATTATAA	0.328000														411			221		0	0	0.003610	0	0
PROX1	5629	broad.mit.edu	37	1	214170561	214170561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:214170561G>A	uc001hkh.3	+	1	955	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	PROX1_uc001hkg.1_Missense_Mutation_p.R228Q	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	228					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.R228Q(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTTTCAGCCCGAAAAGAACAG	0.522000														263			317		0	0	0.003610	0	0
TRPV5	56302	broad.mit.edu	37	7	142622658	142622658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142622658C>T	uc003wby.1	-	7	1352	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	TRPV5_uc003wbz.3_Missense_Mutation_p.R363Q	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	363					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.S362Y(1)		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)					GGTGATGTCTCGAGAATGAGT	0.522000														92			44		0	0	0.003610	0	0
KCNT2	343450	broad.mit.edu	37	1	196227391	196227391	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:196227391T>C	uc001gtd.1	-	25	3204	c.3144A>G	c.(3142-3144)gaA>gaG	p.E1048E	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.E981E|KCNT2_uc001gtf.1_Silent_p.E1024E|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Silent_p.E552E	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1048						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCTTGTCTTTCTGACCTCC	0.428000														16			13		0	0	0.001855	0	0
BUD13	84811	broad.mit.edu	37	11	116633924	116633924	+	Silent	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:116633924A>T	uc001ppn.3	-	3	415	c.381T>A	c.(379-381)tcT>tcA	p.S127S	BUD13_uc001ppo.3_Silent_p.S127S|BUD13_uc009yzc.3_Silent_p.S127S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	127										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCCTCCTAGGAGATGAATCCG	0.527000														479			442		0	0	0.003610	0	0
ITGAL	3683	broad.mit.edu	37	16	30495178	30495178	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:30495178C>T	uc002dyi.4	+	7	929	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Silent_p.A168A|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	251	VWFA.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGCTGGGGGCCCGGCCAGATG	0.582000														466			361		0	0	0.003610	0	0
ODZ4	26011	broad.mit.edu	37	11	78383140	78383140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:78383140C>T	uc001ozl.4	-	30	6194	c.5731G>A	c.(5731-5733)Ggc>Agc	p.G1911S	ODZ4_uc001ozk.4_Missense_Mutation_p.G136S	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1911					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGATGCGGCCCGCCTGGTCG	0.537000														150			57		0	0	0.003610	0	0
BAI3	577	broad.mit.edu	37	6	70034864	70034864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:70034864G>A	uc010kak.3	+	19	3191	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	BAI3_uc003pev.4_Missense_Mutation_p.G972E|BAI3_uc011dxx.2_Missense_Mutation_p.G178E	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	972					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTGTAACTGGAAAAATTAGG	0.413000														70			25		0	0	0.007291	0	0
CAPN3	825	broad.mit.edu	37	15	42702858	42702858	+	Missense_Mutation	SNP	G	A	A	rs146923842	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:42702858G>A	uc001zpn.1	+	20	2563	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	CAPN3_uc001zpk.1_Missense_Mutation_p.D520N|CAPN3_uc001zpl.1_Missense_Mutation_p.D660N|CAPN3_uc010udf.1_Missense_Mutation_p.D666N|CAPN3_uc010udg.1_Missense_Mutation_p.D618N|CAPN3_uc001zpo.1_Missense_Mutation_p.D747N|CAPN3_uc001zpp.1_Missense_Mutation_p.D661N|CAPN3_uc001zpq.1_Missense_Mutation_p.D241N|CAPN3_uc010bcv.1_Missense_Mutation_p.D88N|CAPN3_uc001zpr.1_Missense_Mutation_p.D88N|CAPN3_uc001zps.1_Missense_Mutation_p.D88N|CAPN3_uc001zpt.1_Missense_Mutation_p.D88N	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	753	Domain IV.|EF-hand 3.				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)		TGCAGTCAACGACGCAGGTGC	0.532000														42			27		0	0	0.005443	0	0
SLC29A1	2030	broad.mit.edu	37	6	44198583	44198583	+	Silent	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:44198583A>G	uc003oww.1	+	8	1152	c.960A>G	c.(958-960)gaA>gaG	p.E320E	SLC29A1_uc003owu.1_Silent_p.E241E|SLC29A1_uc003owv.1_Silent_p.E241E|SLC29A1_uc003owx.1_Silent_p.E241E|SLC29A1_uc003owy.1_Silent_p.E241E|SLC29A1_uc003owz.1_Silent_p.E241E	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	241					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TCAAGCTTGAAGGACCCGGGG	0.557000														588			292		0	0	0.003610	0	0
ACRBP	84519	broad.mit.edu	37	12	6753378	6753378	+	Missense_Mutation	SNP	C	T	T	rs150132385		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:6753378C>T	uc001qpu.1	-	4	917	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	ACRBP_uc010sfg.1_Missense_Mutation_p.R257Q	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	290						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTGGGCTGATCGAATGAGCTC	0.428000														334			290		0	0	0.003610	0	0
ADPGK	83440	broad.mit.edu	37	15	73044794	73044794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:73044794G>A	uc002avg.4	-	6	1476	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	ADPGK_uc002ave.4_Missense_Mutation_p.S186F|ADPGK_uc010ukw.2_Missense_Mutation_p.S403F|ADPGK_uc002avf.4_Missense_Mutation_p.S460F|ADPGK_uc002avi.4_Missense_Mutation_p.S338F|ADPGK_uc002avh.4_Missense_Mutation_p.S222F	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	461	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GAAGTGGAAGGATATTCCCTC	0.488000														165			85		0	0	0.003610	0	0
ADNP2	22850	broad.mit.edu	37	18	77894694	77894694	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:77894694C>T	uc002lnw.3	+	3	1853	c.1398C>T	c.(1396-1398)atC>atT	p.I466I		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	466					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CAGGGGTTATCCCTGGGCAAA	0.612000														270			166		0	0	0.003610	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901693	54901693	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:54901693C>T	uc001sgc.4	+	4	442	c.363_splice	c.e4+1	p.I121_splice	NCKAP1L_uc010sox.2_Splice_Site|NCKAP1L_uc010soy.2_Splice_Site_p.I71_splice	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	121					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATTTTGATATCGTAAGAACCT	0.438000														110			23		0	0	0.003954	0	0
ANGPT1	284	broad.mit.edu	37	8	108276486	108276487	+	Missense_Mutation	DNP	GT	TC	TC			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:108276486_108276487GT>TC	uc003ymn.3	-	7	1766_1767	c.1298_1299AC>GA	c.(1297-1299)gac>gGA	p.D433G	ANGPT1_uc011lhv.2_Missense_Mutation_p.D233G|ANGPT1_uc003ymo.3_Missense_Mutation_p.D432G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	433	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ACATACAGTTGTCATTATCAGC	0.431000														11			4		0	0	0.004672	0	0
ZNF439	90594	broad.mit.edu	37	19	11978504	11978504	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11978504T>A	uc002mss.3	+	2	748	c.620T>A	c.(619-621)gTg>gAg	p.V207E	ZNF439_uc002msr.3_Missense_Mutation_p.V71E	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CACATGGTAGTGCACAGTGGG	0.373000														194			141		0	0	0.003610	0	0
SLC1A5	6510	broad.mit.edu	37	19	47285682	47285682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:47285682G>A	uc002pfs.3	-	3	1402	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SLC1A5_uc010xyh.2_Missense_Mutation_p.S59F|SLC1A5_uc002pfq.3_Missense_Mutation_p.S85F|SLC1A5_uc002pfr.3_Missense_Mutation_p.S33F	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	261					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTCATTGAAGGAGTTGAAGAA	0.597000														523			303		0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28711788	28711788	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:28711788G>A	uc002kwn.3	-	14	2518	c.2256C>T	c.(2254-2256)ctC>ctT	p.L752L	DSC1_uc002kwm.3_Silent_p.L752L|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	752					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTGCATGGGGAGTCTAATAT	0.368000														37			22		0	0	0.001882	0	0
HMCN1	83872	broad.mit.edu	37	1	186052055	186052055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:186052055C>T	uc001grq.1	+	56	9075	c.8846C>T	c.(8845-8847)gCt>gTt	p.A2949V	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2949	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAACACAGCTGGGAGTGCC	0.348000														11			6		0	0	0.001168	0	0
HOXA2	3199	broad.mit.edu	37	7	27140431	27140431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:27140431C>T	uc003syh.3	-	1	1320	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	349						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ACGGGACTGTCGAGGGAACCT	0.463000														559			339		0	0	0.003610	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270244	1270244	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:1270244C>T	uc002cks.3	+	34	6560	c.6312C>T	c.(6310-6312)atC>atT	p.I2104I	CACNA1H_uc002ckt.3_Silent_p.I2098I|CACNA1H_uc002cku.3_Silent_p.I799I|CACNA1H_uc010brj.3_Silent_p.I815I|CACNA1H_uc002ckv.3_Silent_p.I793I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2104					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCAGCCACATCACCAGCTCCG	0.741000														169			106		0	0	0.003610	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033094	52033094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:52033094G>A	uc002pwy.3	-	4	1104	c.896C>T	c.(895-897)tCc>tTc	p.S299F	SIGLEC6_uc002pwz.3_Missense_Mutation_p.S283F|SIGLEC6_uc010ydb.2_Missense_Mutation_p.S247F|SIGLEC6_uc010ydc.2_Missense_Mutation_p.S310F|SIGLEC6_uc002pxa.3_Missense_Mutation_p.S299F|SIGLEC6_uc010eoz.2_Missense_Mutation_p.S288F|SIGLEC6_uc010epa.2_Missense_Mutation_p.S288F|SIGLEC6_uc010epb.2_Missense_Mutation_p.S252F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	299	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCCGGTATTGGAGATGGGGGT	0.627000														171			110		0	0	0.003610	0	0
HRNR	388697	broad.mit.edu	37	1	152191815	152191815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:152191815C>T	uc001ezt.1	-	2	2366	c.2290G>A	c.(2290-2292)Ggc>Agc	p.G764S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	764					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCCGTGGCCCGAAGATTGA	0.592000														352			460		0	0	0.003610	0	0
DENND3	22898	broad.mit.edu	37	8	142151323	142151323	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:142151323G>T	uc003yvy.3	+	3	561	c.283G>T	c.(283-285)Ggc>Tgc	p.G95C	DENND3_uc003yvw.1_Missense_Mutation_p.G108C|DENND3_uc003yvx.3_Missense_Mutation_p.M173I|DENND3_uc010mep.3_Missense_Mutation_p.G108C	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	95										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TTTCTACAATGGCAAAACGCA	0.527000														490			252		1.24314e-124	1.83977e-124	0.003610	1	0
SALL3	27164	broad.mit.edu	37	18	76753692	76753692	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:76753692C>T	uc002lmt.3	+	1	1701	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S	SALL3_uc010dra.3_Silent_p.S174S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCTCCTTGTCCCCAGGCCTCA	0.746000														80			35		0	0	0.004289	0	0
CPSF6	11052	broad.mit.edu	37	12	69651633	69651633	+	Silent	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:69651633G>T	uc001sut.4	+	4	752	c.642G>T	c.(640-642)ggG>ggT	p.G214G	CPSF6_uc001suu.4_Silent_p.G214G|CPSF6_uc010stk.2_5'Flank	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	214	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTCCTGGTGGGGACAGATTTC	0.537000														189			193		1.56076e-113	2.30758e-113	0.003610	1	0
GPR112	139378	broad.mit.edu	37	X	135429626	135429626	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:135429626T>G	uc004ezu.1	+	5	4052	c.3761T>G	c.(3760-3762)tTa>tGa	p.L1254*	GPR112_uc010nsb.1_Nonsense_Mutation_p.L1049*|GPR112_uc010nsc.1_Nonsense_Mutation_p.L1021*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1254					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTCTGTCTTATCTTCCGAC	0.418000														8			24		0	0	0.003330	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353822	45353822	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:45353822C>T	uc002xsl.3	+	1	244	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	49						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGCAGGAGTTCCTGGTGGGCA	0.592000														382			216		0	0	0.003610	0	0
FGFR2	2263	broad.mit.edu	37	10	123244982	123244982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:123244982G>A	uc021pzz.1	-	15	2769	c.2122C>T	c.(2122-2124)Ccc>Tcc	p.P708S	FGFR2_uc021pzv.1_Missense_Mutation_p.P596S|FGFR2_uc021pzw.1_Missense_Mutation_p.P593S|FGFR2_uc021pzx.1_Missense_Mutation_p.P619S|FGFR2_uc021pzy.1_Missense_Mutation_p.P709S|FGFR2_uc010qtl.2_Missense_Mutation_p.P592S|FGFR2_uc010qtm.2_Missense_Mutation_p.P591S|FGFR2_uc021qaa.1_Missense_Mutation_p.P709S|FGFR2_uc021qab.1_Missense_Mutation_p.P620S|FGFR2_uc021qac.1_Missense_Mutation_p.P637S|FGFR2_uc001lfg.4_Missense_Mutation_p.P316S|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	708	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.P708S(2)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TCCTCCACGGGAATCCCTGGG	0.522000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					144			65		0	0	0.003610	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552678	173552678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:173552678G>A	uc001giz.2	-	5	1030	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	203					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CTGTTGCCCCGAAAATTTCCA	0.284000														107			29		0	0	0.002836	0	0
USP41	373856	broad.mit.edu	37	22	20729796	20729796	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:20729796C>T	uc011ahq.1	-	1	228	c.162G>A	c.(160-162)caG>caA	p.Q54Q	USP41_uc011ahp.1_5'Flank					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CGTTGTACTTCTGCAGGCAGT	0.567000														77			40		0	0	0.008740	0	0
OR4K5	79317	broad.mit.edu	37	14	20389353	20389353	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20389353A>T	uc010tkw.2	+	0	588	c.588A>T	c.(586-588)gaA>gaT	p.E196D		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACATCATTGAAATACTAATTG	0.408000														91			14		0	0	0.001855	0	0
RET	5979	broad.mit.edu	37	10	43617398	43617398	+	Missense_Mutation	SNP	G	A	A	rs78347871		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:43617398G>A	uc001jal.3	+	15	2925	c.2735G>A	c.(2734-2736)cGg>cAg	p.R912Q	RET_uc001jak.1_Missense_Mutation_p.R912Q|RET_uc010qez.1_Missense_Mutation_p.R658Q	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	912	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R912L(2)|p.G911D(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTTTAGGGTCGGATTCCAGTT	0.453000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					627			263		0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32046957	32046957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:32046957C>T	uc003nzl.2	-	10	4430	c.4228G>A	c.(4228-4230)Gat>Aat	p.D1410N		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1497	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGCCCATCCCTGTCCTTG	0.637000														563			399		0	0	0.003610	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773671	35773671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:35773671C>T	uc003olg.1	+	0	601	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	75						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GTGCTGTCCTCCGAGCTCATC	0.587000														583			354		0	0	0.003610	0	0
PER3	8863	broad.mit.edu	37	1	7870507	7870507	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:7870507C>T	uc001aop.3	+	11	1605	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	PER3_uc009vmg.1_Nonsense_Mutation_p.Q461*|PER3_uc009vmh.1_Nonsense_Mutation_p.Q461*|PER3_uc001aoo.3_Nonsense_Mutation_p.Q460*|PER3_uc010nzw.2_Nonsense_Mutation_p.Q142*	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GATGACCTTGCAGCAGGTCTA	0.363000														204			111		0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71780260	71780260	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:71780260C>T	uc010fen.3	+	19	2067	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	DYSF_uc010fei.3_Silent_p.F641F|DYSF_uc010feh.3_Silent_p.F610F|DYSF_uc002sig.4_Silent_p.F610F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.F655F|DYSF_uc010fee.3_Silent_p.F624F|DYSF_uc010fef.3_Silent_p.F641F|DYSF_uc002sie.3_Silent_p.F624F|DYSF_uc010feo.3_Silent_p.F656F|DYSF_uc010fej.3_Silent_p.F611F|DYSF_uc010fel.3_Silent_p.F611F|DYSF_uc010fem.3_Silent_p.F625F|DYSF_uc002sif.3_Silent_p.F625F|DYSF_uc010fek.3_Silent_p.F642F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	624						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAACAAGTTCGACATGACCT	0.577000														408			228		0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10318681	10318681	+	Silent	SNP	G	A	A	rs140722284		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:10318681G>A	uc002gmm.2	-	7	764	c.669C>T	c.(667-669)atC>atT	p.I223I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	223	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.Q222E(1)|p.Q222K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGCGCTGATGATTTGATCTT	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					28			54		0	0	0.003610	0	0
HTRA1	5654	broad.mit.edu	37	10	124273729	124273729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124273729G>A	uc001lgj.2	+	8	1425	c.1297G>A	c.(1297-1299)Gtc>Atc	p.V433I		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	433	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GGAAAACGACGTCATAATCAG	0.493000														524			294		0	0	0.003610	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055739	85055739	+	RNA	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:85055739A>C	uc002bkm.2	-	5		c.821T>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GCCTCTCCTCATGTTCACGTA	0.547000														64			3		0	0	0.004672	0	0
UBC	7316	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	T	T	rs111245273	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:21730916G>T	uc002gyy.3	+	1	343	c.218G>T	c.(217-219)cGg>cTg	p.R73L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	225	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.R73L(24)|p.R72S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCGGAGAGGTGGT	0.552000														427			14		9.31168e-06	1.35227e-05	0.001855	1	0
DMBT1	1755	broad.mit.edu	37	10	124358299	124358299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124358299C>T	uc001lgk.1	+	25	3072	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F	DMBT1_uc001lgl.1_Missense_Mutation_p.S979F|DMBT1_uc001lgm.1_Missense_Mutation_p.S490F|DMBT1_uc021qaf.1_Missense_Mutation_p.S989F|DMBT1_uc021qag.1_Missense_Mutation_p.S979F|DMBT1_uc021qah.1_Missense_Mutation_p.S490F|DMBT1_uc009xzz.1_Missense_Mutation_p.S989F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	989					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATCTGAATCCAGTTTGGCC	0.537000														550			298		0	0	0.003610	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956860	33956860	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:33956860C>T	uc001bxj.4	+	5	1169	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ZSCAN20_uc001bxk.2_Silent_p.F280F|ZSCAN20_uc009vui.3_Silent_p.F334F	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	334					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T333N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCAAGACTTTCCTGGCAATTT	0.527000														137			113		0	0	0.003610	0	0
CUX2	23316	broad.mit.edu	37	12	111785931	111785931	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:111785931C>T	uc001tsa.2	+	21	4417	c.4263C>T	c.(4261-4263)tcC>tcT	p.S1421S		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1421	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCCCATCTCCCCATCCCCAC	0.657000														203			57		0	0	0.003610	0	0
OR5P2	120065	broad.mit.edu	37	11	7817549	7817549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:7817549C>T	uc001mfp.1	-	0	941	c.941G>A	c.(940-942)aGt>aAt	p.S314N		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAGTTCTACTAAAATAACA	0.373000														37			47		0	0	0.003610	0	0
SCNN1A	6337	broad.mit.edu	37	12	6471223	6471223	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:6471223T>C	uc001qnw.3	-	2	1310	c.1046A>G	c.(1045-1047)aAc>aGc	p.N349S	SCNN1A_uc001qnv.3_Intron|SCNN1A_uc001qnx.3_Missense_Mutation_p.N290S|SCNN1A_uc010sfb.2_Missense_Mutation_p.N313S	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	290					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCACGCCTGGTTGCAGGAGAC	0.632000														309			331		0	0	0.003610	0	0
FER1L6	654463	broad.mit.edu	37	8	124992923	124992923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:124992923G>A	uc003yqw.3	+	10	1488	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	428						integral to membrane		p.K427N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCTTCCAAGGACAAAGACTC	0.453000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			55		0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48688503	48688503	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:48688503G>A	uc003cuf.1	-	16	6402	c.6402C>T	c.(6400-6402)ttC>ttT	p.F2134F	CELSR3_uc010hkg.3_Silent_p.F42F|CELSR3_uc003cul.3_Silent_p.F2064F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2064					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCGGTAGTGGAACTCCTGTT	0.602000														282			188		0	0	0.003610	0	0
ATP11C	286410	broad.mit.edu	37	X	138864889	138864889	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:138864889T>A	uc004faz.3	-	18	1879	c.1780_splice	c.e18-1	p.D594_splice	ATP11C_uc004fay.3_Splice_Site|ATP11C_uc004fba.3_Splice_Site_p.D594_splice	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	594					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATACCCATCCTAGGAGTAAAG	0.358000														24			104		0	0	0.003610	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871126	8871126	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:8871126G>A	uc002qzc.2	-	29	5222	c.5040C>T	c.(5038-5040)ccC>ccT	p.P1680P	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.P1581P|KIDINS220_uc002qzb.2_Silent_p.P534P	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1680					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCACGGTGCTGGGAGTTCGGT	0.483000														341			138		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179478906	179478906	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:179478906C>T	uc021vsy.1	-	210	41739	c.41514G>A	c.(41512-41514)aaG>aaA	p.K13838K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Silent_p.K7533K|TTN_uc021vta.1_Silent_p.K7466K|TTN_uc021vtb.1_Silent_p.K7341K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14765							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTGTATCCTTGACGGTGG	0.458000														8			5		0	0	0.000602	0	0
SPESP1	246777	broad.mit.edu	37	15	69238433	69238433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:69238433G>A	uc002arn.2	+	1	714	c.560G>A	c.(559-561)aGc>aAc	p.S187N	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	187					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTAGATAAGAGCACTGGCATT	0.433000														179			113		0	0	0.003610	0	0
CER1	9350	broad.mit.edu	37	9	14722307	14722307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:14722307C>T	uc003zlj.3	-	0	409	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	122					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GGAGATTTCTCCATTTTCATT	0.507000														72			49		0	0	0.003610	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31810109	31810109	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:31810109T>C	uc001bsp.1	+	3	348	c.212T>C	c.(211-213)cTt>cCt	p.L71P	ZCCHC17_uc001bsq.1_Missense_Mutation_p.L63P|ZCCHC17_uc010ogf.1_Missense_Mutation_p.L47P|ZCCHC17_uc009vtu.1_Missense_Mutation_p.L47P|ZCCHC17_uc001bsr.1_Missense_Mutation_p.L71P|ZCCHC17_uc009vtv.1_Missense_Mutation_p.L47P	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.	71	S1 motif.					nucleolus	RNA binding|zinc ion binding	p.K70N(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TGGGTGAAGCTTATTGGCCGA	0.443000														203			114		0	0	0.003610	0	0
CYP2C19	1557	broad.mit.edu	37	10	96495027	96495027	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:96495027G>A	uc001kjv.4	+	8	1625	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	CYP2C19_uc001kjw.4_Silent_p.R374R|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	433			R -> W (in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R433W(1)|p.R433Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAGGAAAACGGATGTGTATGG	0.403000														16			11		0	0	0.008291	0	0
RPH3A	22895	broad.mit.edu	37	12	113333679	113333679	+	Splice_Site	SNP	G	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:113333679G>C	uc010syl.2	+	21	2316	c.1954_splice	c.e21+1	p.G652_splice	RPH3A_uc001ttz.3_Splice_Site_p.G652_splice|RPH3A_uc001tty.3_Splice_Site_p.G648_splice|RPH3A_uc010sym.2_Splice_Site_p.G603_splice|RPH3A_uc001tua.3_Splice_Site_p.G412_splice	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	652	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GATTACATCGGTGAGTGTTCC	0.468000														23			10		0	0	0.008291	0	0
FAM18A	780776	broad.mit.edu	37	16	10867218	10867218	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:10867218C>T	uc010buo.1	-	4	676	c.405G>A	c.(403-405)tgG>tgA	p.W135*	FAM18A_uc010uyr.1_Non-coding_Transcript|FAM18A_uc010uys.1_Non-coding_Transcript|FAM18A_uc010uyt.1_Non-coding_Transcript|FAM18A_uc010bun.2_Non-coding_Transcript|FAM18A_uc010uyu.1_Non-coding_Transcript|FAM18A_uc002dad.3_Non-coding_Transcript|FAM18A_uc002daf.1_Non-coding_Transcript|FAM18A_uc002dae.1_Nonsense_Mutation_p.W71*	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	Homo sapiens family with sequence similarity 18, member A (FAM18A), mRNA.	135						integral to membrane				kidney(1)|lung(1)|upper_aerodigestive_tract(1)	3						AAAACACAATCCATATCATGG	0.423000														248			156		0	0	0.003610	0	0
SNRPA	6626	broad.mit.edu	37	19	41263307	41263308	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41263307_41263308CC>TT	uc002ooz.3	+	1	699_700	c.144_145CC>TT	c.(142-147)agcctg>agTTtg	p.48_49SL>SL		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	48	RRM 1.					nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TATCACGGAGCCTGAAGATGAG	0.530000														211			138		0	0	0.004672	0	0
LILRB5	10990	broad.mit.edu	37	19	54759954	54759954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:54759954G>A	uc010yer.1	-	3	691	c.580C>T	c.(580-582)Cct>Tct	p.P194S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.P203S|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Missense_Mutation_p.P203S|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	203	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACCTGAGGGTTTTTCCTG	0.532000														471			250		0	0	0.003610	0	0
CCR4	1233	broad.mit.edu	37	3	32995215	32995215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:32995215G>A	uc003cfg.1	+	1	469	c.301G>A	c.(301-303)Gac>Aac	p.D101N	CCR4_uc021wuw.1_Missense_Mutation_p.D101N	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	101					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTATGCAGCAGACCAGTGGGT	0.493000														209			171		0	0	0.003610	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454578	114454578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:114454578C>T	uc001eeg.3	+	3	1658	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Missense_Mutation_p.S329F	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	455					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTTTAGGGTCCCCCTTGGTA	0.517000								Other identified genes with known or suspected DNA repair function						543			375		0	0	0.003610	0	0
DGKH	160851	broad.mit.edu	37	13	42769039	42769039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:42769039C>T	uc001uyl.2	+	16	2121	c.2054C>T	c.(2053-2055)tCt>tTt	p.S685F	DGKH_uc010tfh.2_Missense_Mutation_p.S685F|DGKH_uc001uym.2_Missense_Mutation_p.S685F|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.S440F|DGKH_uc001uyo.2_Missense_Mutation_p.S549F|DGKH_uc010tfj.2_Missense_Mutation_p.S549F|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	685					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCACCTCGGTCTCCAGATGCC	0.418000														60			34		0	0	0.006230	0	0
BSG	682	broad.mit.edu	37	19	578036	578036	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:578036C>T	uc002loz.3	+	1	428	c.330C>T	c.(328-330)gcC>gcT	p.A110A	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002lpa.3_Intron|BSG_uc002lpc.3_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	110					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCCGGGCCAGCAACGACC	0.682000														142			83		0	0	0.003610	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35501050	35501050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:35501050C>T	uc010xsf.1	+	4	395	c.395C>T	c.(394-396)tCt>tTt	p.S132F	GRAMD1A_uc002nxi.1_Missense_Mutation_p.S214F|GRAMD1A_uc010xse.1_Missense_Mutation_p.S127F|GRAMD1A_uc002nxk.2_Missense_Mutation_p.S120F|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	127	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCTACCTCTCTGAGAACTGG	0.657000														553			330		0	0	0.003610	0	0
CST8	10047	broad.mit.edu	37	20	23472502	23472502	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:23472502C>T	uc002wth.1	+	1	555	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	66						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTATGTCTTCCTGGTGGTCA	0.463000														75			42		0	0	0.008740	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418331	38418331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:38418331G>A	uc003jlc.2	+	11	2004	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	EGFLAM_uc003jlb.2_Missense_Mutation_p.G553E|EGFLAM_uc003jle.2_Missense_Mutation_p.G319E|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.	553	Laminin G-like 1.					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)					TGGCCCCTGGGAAAAGCACTC	0.557000														12			18		0	0	0.002299	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	Missense_Mutation	SNP	C	T	T	rs143443709	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:141070139C>T	uc010ncq.3	+	3	1219	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000														368			17		0	0	0.007291	0	0
IQGAP3	128239	broad.mit.edu	37	1	156533598	156533598	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:156533598C>T	uc001fpf.3	-	5	531	c.456G>A	c.(454-456)ctG>ctA	p.L152L	IQGAP3_uc009wsb.1_Silent_p.L109L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	152					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCCAATCCCAGCCGGAAGA	0.537000														166			46		0	0	0.003610	0	0
FGFR1	2260	broad.mit.edu	37	8	38282210	38282210	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:38282210G>A	uc022aua.1	-	6	1695	c.753C>T	c.(751-753)tcC>tcT	p.S251S	FGFR1_uc011lbu.2_Silent_p.S282S|FGFR1_uc011lbv.2_Silent_p.S249S|FGFR1_uc011lbw.2_Silent_p.S162S|FGFR1_uc003xlp.3_Silent_p.S251S|FGFR1_uc022aub.1_Silent_p.S249S|FGFR1_uc022auc.1_Silent_p.S162S|FGFR1_uc022aud.1_Silent_p.S160S|FGFR1_uc010lwk.3_Silent_p.S243S|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Silent_p.S91S|FGFR1_uc011lbt.1_Silent_p.S160S|FGFR1_uc011lbx.1_Silent_p.S162S|FGFR1_uc003xlv.3_Silent_p.S162S|FGFR1_uc003xlu.3_Silent_p.S160S	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	251					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GCCGGTGAGGGGACCGCTCTG	0.607000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							305			186		0	0	0.003610	0	0
ATP7B	540	broad.mit.edu	37	13	52548574	52548574	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:52548574A>G	uc001vfw.2	-	1	939	c.782T>C	c.(781-783)cTg>cCg	p.L261P	ATP7B_uc001vfy.2_Missense_Mutation_p.L261P|ATP7B_uc010adv.2_Missense_Mutation_p.L261P|ATP7B_uc001vfx.2_Missense_Mutation_p.L261P|ATP7B_uc010tgt.1_Missense_Mutation_p.L261P|ATP7B_uc010tgu.1_Missense_Mutation_p.L261P|ATP7B_uc010tgv.1_Missense_Mutation_p.L261P|ATP7B_uc010tgw.1_Missense_Mutation_p.L229P	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	261	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATCTATTCTCAGTTGGAGGGT	0.423000									Wilson disease					109			86		0	0	0.003610	0	0
AK098438	0	broad.mit.edu	37	1	21753549	21753549	+	RNA	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:21753549C>T	uc001bep.1	-	1		c.42G>A								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		TCTTCCTCTTCTTGGTCCTTT	0.463000														119			50		0	0	0.003610	0	0
UTP14A	10813	broad.mit.edu	37	X	129053189	129053189	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:129053189C>T	uc004euz.3	+	6	666	c.576C>T	c.(574-576)ctC>ctT	p.L192L	UTP14A_uc011mup.2_Silent_p.L140L|UTP14A_uc011muq.2_Silent_p.L138L|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	192					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TCAACCTCCTCCATAAGAACA	0.478000														64			246		0	0	0.003610	0	0
IRGC	56269	broad.mit.edu	37	19	44223308	44223308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:44223308G>A	uc002oxh.3	+	1	745	c.598G>A	c.(598-600)Gag>Aag	p.E200K	IRGC_uc021uvh.1_Missense_Mutation_p.E200K	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	200						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCACTGTGCCGAGCGGCTGCG	0.701000														363			217		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13883105	13883105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:13883105C>T	uc003jfd.2	-	19	3124	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1028	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTACATCTTCCAGGGCAGGG	0.532000									Kartagener syndrome					77			27		0	0	0.005443	0	0
FLG2	388698	broad.mit.edu	37	1	152325726	152325726	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:152325726C>T	uc001ezw.4	-	2	4609	c.4536G>A	c.(4534-4536)ggG>ggA	p.G1512G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1512							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCGAGCCCCCTGAGTGCA	0.498000														128			147		0	0	0.003610	0	0
DNM1L	10059	broad.mit.edu	37	12	32871635	32871635	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:32871635C>T	uc010skh.1	+	7	878	c.876C>T	c.(874-876)gcC>gcT	p.A292A	DNM1L_uc010skf.1_Non-coding_Transcript|DNM1L_uc010skg.1_Intron|DNM1L_uc001rld.2_Silent_p.A226A|DNM1L_uc001rle.2_Silent_p.A226A|DNM1L_uc001rlf.2_Silent_p.A226A|DNM1L_uc001rlg.2_Silent_p.A292A|DNM1L_uc001rlh.2_Silent_p.A279A|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	226	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTACTGATGCCATGGATGTAT	0.393000														32			50		0	0	0.003610	0	0
ZNF136	7695	broad.mit.edu	37	19	12298386	12298386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:12298386G>A	uc002mti.3	+	3	1340	c.1193G>A	c.(1192-1194)gGg>gAg	p.G398E	ZNF136_uc010xmh.2_Missense_Mutation_p.G332E	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	398					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AAGGTATGTGGGAAACCCTTT	0.383000														181			82		0	0	0.003610	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068486	57068486	+	Silent	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:57068486A>C	uc001njr.3	-	8	5313	c.5001T>G	c.(4999-5001)gcT>gcG	p.A1667A	TNKS1BP1_uc001njq.3_Silent_p.A240A|TNKS1BP1_uc001njs.3_Silent_p.A1667A	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1667	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCCTCCTCAGCTGAGCGAT	0.592000														120			105		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537555	54537555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:54537555G>A	uc003dhf.3	+	4	466	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D46N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	140						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAATGAAAGGGACAAAGACGG	0.393000														54			22		0	0	0.003954	0	0
PKDCC	91461	broad.mit.edu	37	2	42284374	42284374	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:42284374C>T	uc002rsg.3	+	5	1415	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA.	412	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						ACCAGTGTATCCCAGACAGCA	0.547000														454			269		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82595334	82595334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82595334G>A	uc003uhx.2	-	3	4059	c.3770C>T	c.(3769-3771)cCa>cTa	p.P1257L	PCLO_uc003uhv.2_Missense_Mutation_p.P1257L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1196					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						CTGTTCTTCTGGGGCTGATGT	0.408000														85			65		0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21723441	21723441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:21723441C>T	uc003svc.3	+	32	5552	c.5521C>T	c.(5521-5523)Cgt>Tgt	p.R1841C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1841	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1841H(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCTCAACTTCGTCACCGATG	0.438000									Kartagener syndrome					190			96		0	0	0.003610	0	0
KNDC1	85442	broad.mit.edu	37	10	135020665	135020665	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:135020665C>T	uc001llz.1	+	19	3605	c.3604C>T	c.(3604-3606)Ctg>Ttg	p.L1202L	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1202					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACGCTGGGGCCTGGAGCCCTG	0.657000														77			59		0	0	0.003610	0	0
C10orf71	118461	broad.mit.edu	37	10	50531756	50531756	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:50531756A>T	uc021pqb.1	+	0	1166	c.1166A>T	c.(1165-1167)aAa>aTa	p.K389I	C10orf71_uc021pqa.1_Missense_Mutation_p.K388I|C10orf71_uc021pqc.1_Missense_Mutation_p.K389I	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	389										endometrium(1)	1						ACTGGCAAAAAAGGGAAAGAA	0.478000														382			230		0	0	0.003610	0	0
RELN	5649	broad.mit.edu	37	7	103126851	103126851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:103126851G>A	uc022ajr.1	-	60	9936	c.9776C>T	c.(9775-9777)tCt>tTt	p.S3259F	RELN_uc022ajq.1_Missense_Mutation_p.S3259F|RELN_uc010liz.3_Missense_Mutation_p.S3259F|RN7SK_uc022ajs.1_5'Flank	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3259	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.C3258*(1)		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)		ACTGAAAACAGAGCAGTCATC	0.423000														31			20		0	0	0.010504	0	0
IFNA2	3440	broad.mit.edu	37	9	21385088	21385088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:21385088C>T	uc003zpb.3	-	0	309	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_000605	NP_000596	P01563	IFNA2_HUMAN	Homo sapiens interferon, alpha 2 (IFNA2), mRNA.	81					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TGGATCATCTCATGGAGGACA	0.478000														220			138		0	0	0.003610	0	0
CCNT1	904	broad.mit.edu	37	12	49087349	49087349	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:49087349G>A	uc001rsd.4	-	8	1971	c.1648C>T	c.(1648-1650)Cag>Tag	p.Q550*	CCNT1_uc009zkz.2_Nonsense_Mutation_p.Q265*|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	550	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TTGCTTGTCTGGCTACTATGT	0.448000														279			241		0	0	0.003610	0	0
TMEM63A	9725	broad.mit.edu	37	1	226055587	226055587	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:226055587C>T	uc001hpm.2	-	7	1136	c.514_splice	c.e7+1	p.D172_splice	TMEM63A_uc010pvi.1_Splice_Site_p.D172_splice	NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	172						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGGGTCATTACCCAGCAAGTC	0.547000														125			132		0	0	0.003610	0	0
SUPT6H	6830	broad.mit.edu	37	17	27002448	27002448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:27002448G>A	uc010crt.3	+	6	760	c.568G>A	c.(568-570)Gga>Aga	p.G190R	SUPT6H_uc002hby.3_Missense_Mutation_p.G190R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	190	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGATGATGATGGACAGCCTCT	0.498000														174			111		0	0	0.003610	0	0
TRIM27	5987	broad.mit.edu	37	6	28887960	28887961	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:28887960_28887961GG>AA	uc003nlr.3	-	2	934_935	c.575_576CC>TT	c.(574-576)tcc>tTT	p.S192F	TRIM27_uc003nls.3_Missense_Mutation_p.S192F|TRIM27_uc003nlt.1_Missense_Mutation_p.S192F	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	192					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GCTCCTTTAAGGAGTGATACAG	0.500000			T	RET	papillary thyroid									554			346		0	0	0.004672	0	0
MN1	4330	broad.mit.edu	37	22	28196393	28196393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:28196393G>A	uc003adj.3	-	0	1094	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	47							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGATCCACAGGGCCAGGGGGC	0.647000			T	ETV6	"""AML, meningioma"""									507			294		0	0	0.003610	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160706970	160706970	+	Silent	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:160706970T>C	uc002ubb.4	-	21	2966	c.2892A>G	c.(2890-2892)ctA>ctG	p.L964L	LY75-CD302_uc010fos.3_Silent_p.L964L|LY75-CD302_uc002ubc.4_Silent_p.L964L	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	964	C-type lectin 6.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GTTTGATCTTTAGAAAACACT	0.433000														23			12		0	0	0.001855	0	0
GPR87	53836	broad.mit.edu	37	3	151012994	151012994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:151012994C>T	uc003eyt.2	-	2	401	c.40G>A	c.(40-42)Gag>Aag	p.E14K	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	14						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGTGCAGCTCGTTATCTGTA	0.498000														49			26		0	0	0.006320	0	0
APOF	319	broad.mit.edu	37	12	56755814	56755814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56755814G>A	uc001sle.1	-	1	230	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	59					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GGGGTCTGAGGAGGGTGTCTG	0.527000														420			323		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9062265	9062265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9062265G>A	uc002mkp.3	-	2	25385	c.25181C>T	c.(25180-25182)tCc>tTc	p.S8394F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8396	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGATATGGAAACACTCGT	0.483000														37			34		0	0	0.002836	0	0
FAM47A	158724	broad.mit.edu	37	X	34149162	34149162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:34149162G>A	uc004ddg.3	-	0	1286	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	412								p.R412C(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTTCCAGGCGGAGATGGCAC	0.557000														34			103		0	0	0.003610	0	0
TNR	7143	broad.mit.edu	37	1	175334168	175334168	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:175334168G>A	uc001gkp.1	-	9	2646	c.2565C>T	c.(2563-2565)ccC>ccT	p.P855P	TNR_uc009wwu.1_Silent_p.P855P	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	855	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E854V(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCCACAATGGGCTCAGAGG	0.507000														36			29		0	0	0.006320	0	0
TMEM33	55161	broad.mit.edu	37	4	41946931	41946931	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:41946931T>A	uc003gwi.2	+	4	883	c.518T>A	c.(517-519)tTt>tAt	p.F173Y	TMEM33_uc010ifw.2_Non-coding_Transcript	NM_018126	NP_060596	P57088	TMM33_HUMAN	Homo sapiens transmembrane protein 33 (TMEM33), mRNA.	173						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						GCGACAGTTTTTATGCTTTTT	0.328000														180			38		0	0	0.007835	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902519	61902519	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61902519G>A	uc002jbz.3	-	6	678	c.600C>T	c.(598-600)ttC>ttT	p.F200F	FTSJ3_uc002jca.3_Silent_p.F200F|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	200					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGGGGCCAGGAATCCTAAAA	0.423000														292			177		0	0	0.003610	0	0
NLRC4	58484	broad.mit.edu	37	2	32475921	32475921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:32475921G>A	uc002roi.3	-	3	1273	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	NLRC4_uc021vfq.1_Missense_Mutation_p.P338S|NLRC4_uc002roj.2_Missense_Mutation_p.P338S|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	338	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACAAAGAGAGGGGTCTTCATG	0.478000														63			48		0	0	0.003610	0	0
SLC7A11	23657	broad.mit.edu	37	4	139157563	139157563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:139157563G>A	uc021xrw.1	-	1	600	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	107					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ATGACCTCCAGATTTCTTTAT	0.373000														141			34		0	0	0.003271	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696555	150696555	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:150696555G>A	uc003lty.3	-	9	1405	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.L227L	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	425					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCTCCAGGAGCGGTGGGA	0.647000														30			51		0	0	0.003610	0	0
MYCT1	80177	broad.mit.edu	37	6	153019226	153019227	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:153019226_153019227CT>TA	uc003qpc.4	+	0	197_198	c.189_190CT>TA	c.(187-192)aacttt>aaTAtt	p.F64I		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	64						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GGCCAGAAAACTTTTGGGGTAA	0.312000														22			18		0	0	0.004672	0	0
SHD	56961	broad.mit.edu	37	19	4283124	4283124	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:4283124C>T	uc002lzw.2	+	2	1940	c.477C>T	c.(475-477)ccC>ccT	p.P159P		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	159										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATGGACCCCCTTCTGGGC	0.582000														344			166		0	0	0.003610	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	Silent	SNP	T	C	C	rs138077672	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142481888T>C	uc011ksq.2	+	3	650	c.567T>C	c.(565-567)ctT>ctC	p.L189L	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGGGCTTCCTTGAGGGAGGCA	0.522000														46			4		0	0	0.003080	0	0
HERC4	26091	broad.mit.edu	37	10	69750152	69750152	+	Silent	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:69750152T>G	uc001jng.4	-	13	1760	c.1449A>C	c.(1447-1449)gcA>gcC	p.A483A	HERC4_uc009xpq.3_Silent_p.A24A|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Silent_p.A483A|HERC4_uc009xpr.3_Silent_p.A483A|HERC4_uc001jni.4_Silent_p.A227A|HERC4_uc021prr.1_5'UTR	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	483					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCAAACTAGCTGCCACCTATA	0.328000														20			12		0	0	0.001368	0	0
ADH4	127	broad.mit.edu	37	4	100047829	100047829	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:100047829T>A	uc003hun.3	-	7	1110	c.1034A>T	c.(1033-1035)aAa>aTa	p.K345I	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.K364I	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	345					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CAGATTGAATTTCTTATTCTT	0.388000														80			151		0	0	0.003610	0	0
RALGAPB	57148	broad.mit.edu	37	20	37168551	37168551	+	Nonsense_Mutation	SNP	C	T	T	rs79899092		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:37168551C>T	uc002xiw.3	+	16	2769	c.2512C>T	c.(2512-2514)Cag>Tag	p.Q838*	RALGAPB_uc002xix.3_Nonsense_Mutation_p.Q834*|RALGAPB_uc002xiy.1_Nonsense_Mutation_p.Q838*|RALGAPB_uc002xiz.3_Nonsense_Mutation_p.Q616*|RALGAPB_uc002xja.1_Nonsense_Mutation_p.Q565*	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	838					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGCAGCTTTTCAGTGTCTCTG	0.423000														64			23		0	0	0.006320	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871597	51871597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:51871597G>A	uc002xwo.3	+	1	2487	c.1600G>A	c.(1600-1602)Ggg>Agg	p.G534R	TSHZ2_uc021wex.1_Missense_Mutation_p.G531R	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	534					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCCCAAAACGGGGCCCCCAG	0.552000														157			86		0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41158868	41158868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:41158868C>T	uc003jmk.2	-	12	2086	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	C6_uc003jml.1_Missense_Mutation_p.D626N	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	626					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)				TCTTCGTCATCATTGATACAT	0.388000														1			3		0	0	0.004672	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555104	44555104	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:44555104C>T	uc010xdb.2	-	0	1346	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	370	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GATCGGGCGTCCACCCTTCCA	0.587000														488			25		0	0	0.009718	0	0
AKT2	208	broad.mit.edu	37	19	40741983	40741983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:40741983G>A	uc002onf.3	-	10	1288	c.989C>T	c.(988-990)gCc>gTc	p.A330V	AKT2_uc010egs.3_Missense_Mutation_p.A287V|AKT2_uc010xvj.2_Missense_Mutation_p.A268V|AKT2_uc010egt.3_Missense_Mutation_p.A268V|AKT2_uc010egu.2_Missense_Mutation_p.A268V|AKT2_uc002one.3_Missense_Mutation_p.A226V	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	330	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCAGTCCACGGCCCGGCCATA	0.637000			A		"""ovarian, pancreatic """									590			319		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106667825	106667825	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:106667825G>A	uc021ser.1	-	1314		c.27102C>T								Parts of antibodies, mostly variable regions.																		GAGTCTCAGGGACCCCCCAGG	0.592000														114			78		0	0	0.003610	0	0
FAT2	2196	broad.mit.edu	37	5	150929002	150929003	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:150929002_150929003CC>TT	uc003lue.4	-	7	4655_4656	c.4642_4643GG>AA	c.(4642-4644)gga>AAa	p.G1548K		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1548	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGAGGTTTCCATCCTCCACA	0.550000														22			39		0	0	0.004672	0	0
NUBP2	10101	broad.mit.edu	37	16	1838655	1838655	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:1838655C>T	uc002cmw.4	+	6	845	c.756C>T	c.(754-756)ttC>ttT	p.F252F	NUBP2_uc002cmx.4_Silent_p.F111F	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	252						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GCCCCGCCTTCGCTGCACTCA	0.667000														149			123		0	0	0.003610	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617633	54617633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:54617633G>A	uc022adk.1	+	3	809	c.404G>A	c.(403-405)gGg>gAg	p.G135E	VSTM2A_uc010kzf.3_Missense_Mutation_p.G135E	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	135	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCCAACTACGGGGAGCTTCAG	0.522000														117			88		0	0	0.003610	0	0
LCP2	3937	broad.mit.edu	37	5	169720331	169720331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:169720331C>T	uc003man.1	-	1	331	c.124G>A	c.(124-126)Gat>Aat	p.D42N	LCP2_uc011det.1_5'UTR	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	42	SAM.				T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CGAGCCCCATCGATGTGGTAC	0.517000														6			10		0	0	0.000978	0	0
NLRP3	114548	broad.mit.edu	37	1	247588522	247588522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:247588522G>A	uc001icr.3	+	4	1915	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	NLRP3_uc001ics.3_Missense_Mutation_p.E593K|NLRP3_uc001icu.3_Missense_Mutation_p.E593K|NLRP3_uc001icw.3_Missense_Mutation_p.E593K|NLRP3_uc001icv.3_Missense_Mutation_p.E593K|NLRP3_uc010pyw.2_Missense_Mutation_p.E591K|NLRP3_uc001ict.1_Missense_Mutation_p.E591K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	593					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCTACTTGGAGAAGAAATT	0.438000														91			91		0	0	0.003610	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701399	195701399	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:195701399G>A	uc011btq.1	-	7	1094	c.465C>T	c.(463-465)ccC>ccT	p.P155P	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		CGTACAGGCCGGGCACAATCT	0.587000														518			93		0	0	0.003610	0	0
SLX4	84464	broad.mit.edu	37	16	3640521	3640521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:3640521G>A	uc002cvp.2	-	11	3745	c.3118C>T	c.(3118-3120)Ccc>Tcc	p.P1040S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1040	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCGCCCTGGGGAGGCCCCAAT	0.662000								Direct reversal of damage						491			368		0	0	0.003610	0	0
CHODL	140578	broad.mit.edu	37	21	19628897	19628897	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:19628897C>T	uc002ykv.3	+	1	542	c.151C>T	c.(151-153)Cga>Tga	p.R51*	CHODL_uc002ykr.3_Nonsense_Mutation_p.R10*|CHODL_uc002yks.3_Nonsense_Mutation_p.R10*|CHODL_uc021whr.1_Nonsense_Mutation_p.R10*|CHODL_uc002ykt.3_Nonsense_Mutation_p.R10*|CHODL_uc002yku.3_Nonsense_Mutation_p.R10*|CHODL_uc021whs.1_Nonsense_Mutation_p.R32*	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	51	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ACTGTCCAGCCGAGTGAGCTT	0.463000														28			51		0	0	0.003610	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														305			396		0	0	0.003610	0	0
TXNL1	9352	broad.mit.edu	37	18	54278309	54278309	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:54278309T>G	uc002lgg.3	-	6	1354	c.755A>C	c.(754-756)cAa>cCa	p.Q252P	TXNL1_uc010xdz.2_Non-coding_Transcript|TXNL1_uc002lgh.3_Non-coding_Transcript|TXNL1_uc002lgi.3_Missense_Mutation_p.Q252P|TXNL1_uc002lgj.1_Missense_Mutation_p.Q252P	NM_004786	NP_004777	O43396	TXNL1_HUMAN	Homo sapiens thioredoxin-like 1 (TXNL1), transcript variant 1, mRNA.	252	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CTCTTCACCTTGATTCGACTG	0.289000														18			15		0	0	0.003163	0	0
C5orf20	140947	broad.mit.edu	37	5	134782188	134782188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:134782188G>A	uc003lav.3	-	0	851	c.611C>T	c.(610-612)tCt>tTt	p.S204F		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	204	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGTGCGAAGACCAGGCCCT	0.527000														50			113		0	0	0.003610	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601935	138601935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:138601935C>T	uc011kql.2	-	1	2486	c.2437G>A	c.(2437-2439)Gac>Aac	p.D813N	KIAA1549_uc011kqj.2_Missense_Mutation_p.D813N	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	813						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGATTTGGTCGTCAGGAGGT	0.507000			O	BRAF	pilocytic astrocytoma									81			28		0	0	0.007291	0	0
TCTN2	79867	broad.mit.edu	37	12	124191370	124191370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:124191370C>T	uc001ufp.3	+	15	1995	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S	TCTN2_uc009zya.3_Missense_Mutation_p.P622S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	623					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TATTAAAATTCCTGCACAGTT	0.453000														169			141		0	0	0.003610	0	0
C10orf76	79591	broad.mit.edu	37	10	103755071	103755071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:103755071G>A	uc009xwy.1	-	15	1294	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	398						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATACATGTAAGGATAATCAGA	0.418000														87			68		0	0	0.003610	0	0
LOXL2	4017	broad.mit.edu	37	8	23167372	23167372	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:23167372C>T	uc003xdh.1	-	9	2028	c.1689G>A	c.(1687-1689)ctG>ctA	p.L563L	LOXL2_uc010lty.1_Silent_p.L102L	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	563	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCGGTCCTCCAGGTAGGTGG	0.662000														385			210		0	0	0.003610	0	0
ADAM18	8749	broad.mit.edu	37	8	39495136	39495136	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:39495136G>A	uc003xni.3	+	8	796	c.741G>A	c.(739-741)ggG>ggA	p.G247G	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.G223G	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	247	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCACCAGTGGGGATGCTGATG	0.378000														17			10		0	0	0.006214	0	0
LTBP3	4054	broad.mit.edu	37	11	65313968	65313968	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:65313968G>A	uc001oej.3	-	15	2567	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Silent_p.F196F|LTBP3_uc010roi.2_Silent_p.F649F|LTBP3_uc001oei.3_Silent_p.F766F|LTBP3_uc010roj.2_Silent_p.F467F|LTBP3_uc010rok.1_Silent_p.F677F	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	766	Cys-rich.|EGF-like 6; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGTGCAGCGGAAGGAGCCCG	0.746000														120			117		0	0	0.003610	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234799	44234799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:44234799C>T	uc003bee.1	-	3	572	c.456G>A	c.(454-456)atG>atA	p.M152I	SULT4A1_uc003bed.1_Missense_Mutation_p.M73I|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	152					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CTCGGTAGCTCATGGTCCGCA	0.527000														355			216		0	0	0.003610	0	0
KLHL20	27252	broad.mit.edu	37	1	173703100	173703100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:173703100C>T	uc001gjc.3	+	2	451	c.272C>T	c.(271-273)cCc>cTc	p.P91L	KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Missense_Mutation_p.P73L|KLHL20_uc001gjd.3_Missense_Mutation_p.P91L	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	91	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCCTGTAGTCCCTACTTCCGA	0.478000														74			109		0	0	0.003610	0	0
CHRD	8646	broad.mit.edu	37	3	184100547	184100547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:184100547G>A	uc003fov.3	+	7	1213	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.E323K|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	323	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGCTGCTGGAACCCAGGAG	0.592000														437			260		0	0	0.003610	0	0
MLL3	58508	broad.mit.edu	37	7	151962153	151962153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:151962153C>T	uc003wla.3	-	7	1373	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	385					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.Q384E(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCACTCAGGACATTGCCAACC	0.423000			N		medulloblastoma									214			14		0	0	0.002299	0	0
CHL1	10752	broad.mit.edu	37	3	391211	391211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:391211C>T	uc003bot.3	+	9	1660	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	CHL1_uc003bou.3_Missense_Mutation_p.H324Y|CHL1_uc003bow.2_Missense_Mutation_p.H324Y|CHL1_uc011asi.2_Missense_Mutation_p.H340Y	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	324	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCACGATTTTCACGTTATAGT	0.393000														101			36		0	0	0.006230	0	0
VEGFB	7423	broad.mit.edu	37	11	64005048	64005048	+	Silent	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64005048A>C	uc001nyw.3	+	5	817	c.567A>C	c.(565-567)ggA>ggC	p.G189G	VEGFB_uc001nyx.3_Missense_Mutation_p.T156P	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	189					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TGACCCCCGGACCTGCCGCTG	0.711000														78			14		0	0	0.003271	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTTGAGGAACAGCACATCAG	0.438000														139			218		0	0	0.003610	0	0
BBS10	79738	broad.mit.edu	37	12	76740252	76740252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:76740252G>A	uc001syd.1	-	1	1597	c.1513C>T	c.(1513-1515)Ccg>Tcg	p.P505S		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	505					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTTGAATACGGAATATATGTT	0.343000									Bardet-Biedl syndrome					292			245		0	0	0.003610	0	0
SCCPDH	51097	broad.mit.edu	37	1	246923342	246923342	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:246923342T>G	uc001ibr.3	+	7	1244	c.897T>G	c.(895-897)ttT>ttG	p.F299L		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA.	299						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TTTTGTTCTTTGTGAGGTTTG	0.328000														176			90		0	0	0.003610	0	0
ZNF121	7675	broad.mit.edu	37	19	9677121	9677121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9677121G>A	uc010xkp.1	-	3	900	c.668C>T	c.(667-669)aCt>aTt	p.T223I	ZNF121_uc010dwt.2_Missense_Mutation_p.T223I|ZNF121_uc010xkq.1_Missense_Mutation_p.T223I	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	Homo sapiens zinc finger protein 121 (ZNF121), mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CTTCTCTCCAGTGTGTATTCG	0.413000														86			46		0	0	0.003214	0	0
ERN1	2081	broad.mit.edu	37	17	62131659	62131659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:62131659C>T	uc002jdz.2	-	14	2017	c.1904G>A	c.(1903-1905)cGg>cAg	p.R635Q		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	635	Protein kinase.		R -> W (in a gastric adenocarcinoma sample; somatic mutation).		activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.R635W(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTGGAATTGCCGGTCCTTCTC	0.483000														96			50		0	0	0.003610	0	0
SYTL2	54843	broad.mit.edu	37	11	85420485	85420485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:85420485C>T	uc010rth.2	-	11	2278	c.1889G>A	c.(1888-1890)gGa>gAa	p.G630E	SYTL2_uc010rtg.2_Missense_Mutation_p.G631E|SYTL2_uc010rti.2_Missense_Mutation_p.G606E|SYTL2_uc010rtj.2_Missense_Mutation_p.G598E|SYTL2_uc001pav.3_Missense_Mutation_p.G72E|SYTL2_uc010rte.2_Missense_Mutation_p.G32E|SYTL2_uc001pax.3_Missense_Mutation_p.G72E|SYTL2_uc001paz.3_5'UTR|SYTL2_uc001pay.3_Missense_Mutation_p.G61E|SYTL2_uc001paw.3_Missense_Mutation_p.G32E|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Missense_Mutation_p.G928E|SYTL2_uc001pbb.3_Missense_Mutation_p.G968E|SYTL2_uc001pbc.3_Missense_Mutation_p.G952E|SYTL2_uc010rtf.2_Missense_Mutation_p.G448E	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	630	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTGAATATTTCCTTTAACTTC	0.398000														152			51		0	0	0.003610	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983084	12983084	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:12983084A>C	uc003bxt.2	-	1	356	c.347T>G	c.(346-348)cTg>cGg	p.L116R	IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Missense_Mutation_p.L102R	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	116					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTGTCCTGCAGGTCCGAGGA	0.632000														91			79		0	0	0.003610	0	0
AHSG	197	broad.mit.edu	37	3	186333516	186333516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:186333516G>A	uc003fqk.4	+	1	337	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	AHSG_uc003fqj.3_Missense_Mutation_p.E86K	NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	86	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AGACACCCTGGAAACCACCTG	0.557000														166			117		0	0	0.003610	0	0
CHD7	55636	broad.mit.edu	37	8	61654794	61654794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:61654794C>T	uc003xue.3	+	1	1295	c.803C>T	c.(802-804)tCc>tTc	p.S268F	CHD7_uc022aux.1_Missense_Mutation_p.S268F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	268					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CATGGAGAATCCGTTGCCCAC	0.582000														533			395		0	0	0.003610	0	0
NELL2	4753	broad.mit.edu	37	12	45059387	45059387	+	Missense_Mutation	SNP	C	T	T	rs150491663		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:45059387C>T	uc010skz.1	-	13	1599	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	NELL2_uc001rof.3_Missense_Mutation_p.D441N|NELL2_uc001rog.2_Missense_Mutation_p.D442N|NELL2_uc001roh.2_Missense_Mutation_p.D442N|NELL2_uc009zkd.2_Missense_Mutation_p.D441N|NELL2_uc010sla.1_Missense_Mutation_p.D465N|NELL2_uc001roi.1_Missense_Mutation_p.D442N|NELL2_uc010slb.1_Missense_Mutation_p.D441N|NELL2_uc001roj.2_Missense_Mutation_p.D442N	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	442	EGF-like 3.				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)		GCACACTCATCGATGTCTGTG	0.418000														118			34		0	0	0.004289	0	0
PPP2R4	5524	broad.mit.edu	37	9	131885396	131885396	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:131885396C>T	uc004bxm.2	+	2	482	c.195C>T	c.(193-195)acC>acT	p.T65T	PPP2R4_uc004bxl.2_Silent_p.T65T|PPP2R4_uc011mbo.2_Silent_p.T65T|PPP2R4_uc010myr.2_Intron|PPP2R4_uc004bxn.2_Silent_p.T65T|PPP2R4_uc004bxo.2_Silent_p.T65T|PPP2R4_uc011mbp.2_Intron|PPP2R4_uc011mbq.1_Silent_p.T65T|PPP2R4_uc010mys.2_Silent_p.T30T	NM_178001	NP_821068	Q15257	PTPA_HUMAN	Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA.	65					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		AGAAGCTGACCTTCGAGTACA	0.547000														174			299		0	0	0.003610	0	0
OR4K2	390431	broad.mit.edu	37	14	20344984	20344984	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20344984G>A	uc001vwh.1	+	0	558	c.558G>A	c.(556-558)caG>caA	p.Q186Q		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGTTCCAGTTGGCTTGTG	0.398000														836			104		0	0	0.003610	0	0
ZNF77	58492	broad.mit.edu	37	19	2936681	2936681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:2936681G>A	uc002lws.4	-	2	283	c.152C>T	c.(151-153)aCc>aTc	p.T51I		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCCACTGGTTCTAACATA	0.353000														268			174		0	0	0.003610	0	0
KIAA1804	84451	broad.mit.edu	37	1	233512231	233512231	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:233512231C>T	uc001hvt.4	+	7	2143	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*	KIAA1804_uc001hvu.4_Nonsense_Mutation_p.Q74*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	628					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AATAAAAAATCAGAAAACCAT	0.413000														42			28		0	0	0.002836	0	0
ABCG4	64137	broad.mit.edu	37	11	119027056	119027056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:119027056C>T	uc001pvs.3	+	6	1040	c.704C>T	c.(703-705)tCt>tTt	p.S235F	ABCG4_uc009zar.3_Missense_Mutation_p.S235F	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	235	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GATAGCGCCTCTTGTTTCCAA	0.602000														679			224		0	0	0.003610	0	0
SP140	11262	broad.mit.edu	37	2	231106160	231106160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:231106160G>A	uc002vql.3	+	3	563	c.448G>A	c.(448-450)Gat>Aat	p.D150N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.D150N|SP140_uc002vqn.3_Missense_Mutation_p.D150N|SP140_uc002vqm.3_Missense_Mutation_p.D150N|SP140_uc010fxl.3_Missense_Mutation_p.D150N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	150					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAATGTAAACGATTTAGAAGA	0.378000														16			5		0	0	0.001168	0	0
C6orf222	389384	broad.mit.edu	37	6	36298017	36298017	+	Missense_Mutation	SNP	C	T	T	rs149916620		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:36298017C>T	uc003oly.3	-	1	629	c.451G>A	c.(451-453)Gac>Aac	p.D151N		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	151										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCTTCTTGTCGTGGTGGGCT	0.622000														152			84		0	0	0.003610	0	0
KDM3B	51780	broad.mit.edu	37	5	137733895	137733895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:137733895C>T	uc003lcy.1	+	9	3060	c.2860C>T	c.(2860-2862)Cgt>Tgt	p.R954C	KDM3B_uc010jew.1_Missense_Mutation_p.R610C|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	954					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGGGGTACTCCGTGTGGAGGG	0.498000														41			80		0	0	0.003610	0	0
NR2E3	10002	broad.mit.edu	37	15	72109899	72109899	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:72109899G>A	uc002ati.3	+	8	1297	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G		NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	369					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						TCAGGTTTGGGAAATTGCTCC	0.552000														558			253		0	0	0.003610	0	0
OR2G2	81470	broad.mit.edu	37	1	247752384	247752384	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:247752384C>T	uc010pyy.2	+	0	723	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			AGAAAGCATTCGGGACCTGCT	0.502000														23			33		0	0	0.009535	0	0
VEGFB	7423	broad.mit.edu	37	11	64005040	64005040	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64005040A>C	uc001nyw.3	+	5	809	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_uc001nyx.3_Missense_Mutation_p.D153A	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706000														73			16		0	0	0.003610	0	0
SCML2	10389	broad.mit.edu	37	X	18260653	18260653	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:18260653T>G	uc004cyl.2	-	13	2037	c.1880A>C	c.(1879-1881)gAc>gCc	p.D627A	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	627					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GGTTGAAGGGTCCTTAGAGAA	0.458000														15			116		0	0	0.003610	0	0
DIP2C	22982	broad.mit.edu	37	10	408428	408428	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:408428A>G	uc001ifp.3	-	22	2884	c.2794_splice	c.e22+1	p.E932_splice	DIP2C_uc009xhi.1_Splice_Site_p.E318_splice|DIP2C_uc010pzz.1_Splice_Site_p.E253_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	932						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGTGCACATACCTGGCTGCT	0.597000														264			133		0	0	0.003610	0	0
CLCA3P	9629	broad.mit.edu	37	1	87101784	87101784	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:87101784G>A	uc010osh.2	+	2		c.464G>A								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.									p.R149Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						TATGGGCCTCGAGGTAGAGAT	0.328000														71			37		0	0	0.002522	0	0
TRIM21	6737	broad.mit.edu	37	11	4407465	4407465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:4407465C>T	uc001lyy.1	-	5	894	c.781G>A	c.(781-783)Gac>Aac	p.D261N		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	261					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ATATCCAGGTCCTTCAGGTTC	0.507000														33			11		0	0	0.008291	0	0
WDR45	11152	broad.mit.edu	37	X	48934105	48934105	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:48934105G>A	uc004dml.1	-	5	595	c.423C>T	c.(421-423)acC>acT	p.T141T	WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Intron|WDR45_uc004dmj.1_Silent_p.T90T|WDR45_uc004dmk.1_Silent_p.T140T|WDR45_uc004dmn.1_Silent_p.T31T|WDR45_uc004dmp.1_Silent_p.T141T	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	140					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGTTGTCCCGGGTATCAAACT	0.532000														109			474		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82476488	82476488	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82476488T>A	uc003uhx.2	-	10	14019	c.13730A>T	c.(13729-13731)cAg>cTg	p.Q4577L	PCLO_uc003uhv.2_Missense_Mutation_p.Q4577L|PCLO_uc003uht.1_Missense_Mutation_p.Q28L|PCLO_uc003uhu.1_Missense_Mutation_p.S10C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4465	C2 1.				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						CCCACTTTGCTGACTAATGAT	0.333000														9			7		0	0	0.001984	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857458	9857458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:9857458C>T	uc010uym.2	-	13	4253	c.3943G>A	c.(3943-3945)Gac>Aac	p.D1315N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1315N|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1315					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTTCCCTGTCCTTGAGGCTT	0.512000														51			20		0	0	0.002780	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334746	122334746	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:122334746C>T	uc001lev.1	+	5	901	c.549C>T	c.(547-549)atC>atT	p.I183I	PPAPDC1A_uc010qtd.2_Silent_p.I183I|PPAPDC1A_uc009xzl.1_Silent_p.I120I|PPAPDC1A_uc001lew.1_Missense_Mutation_p.S90F|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Silent_p.I62I	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	183					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTGCTGCCATCCTGCCCTTGT	0.607000														101			48		0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34182043	34182043	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:34182043G>A	uc001bxm.1	-	19	3237	c.3060C>T	c.(3058-3060)atC>atT	p.I1020I	CSMD2_uc001bxn.1_Silent_p.I980I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	980	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGTTCTCAGTGATGAGGAGGT	0.577000														178			107		0	0	0.003610	0	0
ZNF562	54811	broad.mit.edu	37	19	9768812	9768812	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:9768812C>T	uc002mly.3	-	4	331	c.115_splice	c.e4-1	p.D39_splice	ZNF562_uc010xks.2_Splice_Site_p.D39_splice|ZNF562_uc002mlx.3_Intron|ZNF562_uc010xkt.2_Splice_Site_p.D2_splice|ZNF562_uc010xku.2_Splice_Site|ZNF562_uc010xkv.1_Splice_Site_p.D39_splice|ZNF562_uc010xkw.1_Intron	NM_001130031	NP_001123504	Q6V9R5	ZN562_HUMAN	Homo sapiens zinc finger protein 562 (ZNF562), transcript variant 1, mRNA.	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TCACTGAATCCTAAGTCATCA	0.453000														27			35		0	0	0.004878	0	0
ASNSD1	54529	broad.mit.edu	37	2	190530903	190530903	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:190530903C>T	uc002uqt.3	+	3	479	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	15	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CTGAGCATTTCAGTCAAGATT	0.328000														421			266		0	0	0.003610	0	0
PVRL4	81607	broad.mit.edu	37	1	161046224	161046224	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:161046224G>A	uc001fxo.2	-	3	1071	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'UTR	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	258	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGTGCCACAGATTTTGGTCT	0.547000														392			544		0	0	0.003610	0	0
RBM42	79171	broad.mit.edu	37	19	36125256	36125257	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:36125256_36125257CC>TT	uc002oan.3	+	7	1192_1193	c.1116_1117CC>TT	c.(1114-1119)agcctg>agTTtg	p.372_373SL>SL	RBM42_uc002oap.3_Silent_p.342_343SL>SL|RBM42_uc002oaq.3_Silent_p.343_344SL>SL	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	372	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGACCCCAGCCTGCTGGAGTG	0.624000														322			179		0	0	0.004672	0	0
SALL4	57167	broad.mit.edu	37	20	50406809	50406809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:50406809G>A	uc002xwh.4	-	1	2314	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	738					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAAGGGGCAGGACCCACTTT	0.597000														178			99		0	0	0.003610	0	0
GUCY2D	3000	broad.mit.edu	37	17	7910458	7910458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:7910458G>A	uc002gjt.2	+	4	1533	c.1459G>A	c.(1459-1461)Gtg>Atg	p.V487M		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	487					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGCCCATTATGTGAGGTGAGT	0.557000														208			355		0	0	0.003610	0	0
CBS	875	broad.mit.edu	37	21	44488672	44488672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr21:44488672G>A	uc002zcu.2	-	3	508	c.263C>T	c.(262-264)cCt>cTt	p.P88L	CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Missense_Mutation_p.P88L|CBS_uc002zcw.3_Missense_Mutation_p.P88L|CBS_uc002zcv.2_Missense_Mutation_p.P88L	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	88			P -> S (in CBSD).		L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TCTGACCATAGGGGTGTCCCC	0.453000														311			597		0	0	0.003610	0	0
OR4A15	81328	broad.mit.edu	37	11	55135452	55135452	+	Missense_Mutation	SNP	G	A	A	rs149233751		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:55135452G>A	uc010rif.2	+	0	93	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M31I(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAGAACACATGAAAAATAAGA	0.388000														5			6		0	0	0.001168	0	0
RNASE2	6036	broad.mit.edu	37	14	21424314	21424314	+	Silent	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:21424314A>C	uc021ros.1	+	0	384	c.384A>C	c.(382-384)acA>acC	p.T128T	RNASE2_uc010aif.2_Silent_p.T128T|RNASE2_uc001vyl.1_Silent_p.T128T	NM_002934	NP_002925	P10153	RNAS2_HUMAN	Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA.	128					RNA catabolic process|chemotaxis	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		ATGCGCAGACACCAGCAAACA	0.458000														171			102		0	0	0.003610	0	0
PROL1	58503	broad.mit.edu	37	4	71275649	71275649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:71275649G>A	uc003hfi.3	+	2	778	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	202	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				AGCATCTACTGAAAATACTAC	0.483000														345			77		0	0	0.003610	0	0
DDX51	317781	broad.mit.edu	37	12	132624299	132624299	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:132624299G>A	uc001ujy.4	-	13	1894	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	619	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GTTAGCATTCGGAGGAATCTC	0.607000														270			241		0	0	0.003610	0	0
DCX	1641	broad.mit.edu	37	X	110644344	110644344	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:110644344C>T	uc004epd.3	-	2	994	c.822G>A	c.(820-822)aaG>aaA	p.K274K	DCX_uc011msv.2_Silent_p.K274K|DCX_uc004epe.3_Silent_p.K193K|DCX_uc004epf.3_Silent_p.K193K|DCX_uc004epg.3_Silent_p.K193K	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	274	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CACGCACAGCCTTCCGAGGCT	0.537000														4			21		0	0	0.008871	0	0
OR7C2	26658	broad.mit.edu	37	19	15052948	15052948	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:15052948C>T	uc010xoc.2	+	0	648	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GAATCCTATTCTCTTATTCTC	0.468000														157			114		0	0	0.003610	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146321	5146321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:5146321G>A	uc003jdl.3	+	2	392	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R85Q|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R85Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	85					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATCAGCGGCGGAGAAGAGCA	0.542000														227			45		0	0	0.003610	0	0
HOXB6	3216	broad.mit.edu	37	17	46673891	46673892	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:46673891_46673892CC>AT	uc002ins.1	-	3	883_884	c.558_559GG>AT	c.(556-561)acggag>acATag	p.E187*	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB5_uc002inr.3_5'Flank|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB6_uc010dbh.1_Nonsense_Mutation_p.E187*|HOXB6_uc002int.1_3'UTR|HOXB-AS3_uc021tzk.1_Intron	NM_018952	NP_061825	P17509	HXB6_HUMAN	Homo sapiens homeobox B6 (HOXB6), mRNA.	187					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATCTGCCTCTCCGTCAGGCACA	0.579000														593			344		0	0	0.004672	0	0
HCRTR2	3062	broad.mit.edu	37	6	55120104	55120104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:55120104G>A	uc003pcl.3	+	2	888	c.573G>A	c.(571-573)atG>atA	p.M191I	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.M126I	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	191					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCATCGTCATGGAGTGCAGCA	0.498000														33			17		0	0	0.004007	0	0
SFT2D1	113402	broad.mit.edu	37	6	166743718	166743718	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:166743718G>A	uc003qux.3	-	1	103	c.81C>T	c.(79-81)tcC>tcT	p.S27S		NM_145169	NP_660152	Q8WV19	SFT2A_HUMAN	Homo sapiens SFT2 domain containing 1 (SFT2D1), mRNA.	27					protein transport|vesicle-mediated transport	integral to membrane		p.S26*(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		TGAAACTAAGGGATGAGGCAT	0.308000														19			43		0	0	0.003610	0	0
LOC441601	441601	broad.mit.edu	37	11	50246832	50246832	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:50246832C>T	uc001nhd.3	-	4		c.643_splice	c.e4+1							Homo sapiens septin 7 pseudogene (LOC441601), non-coding RNA.																		TCCTGCTCACCTGTTTTTTAA	0.373000														19			13		0	0	0.001855	0	0
MYO18B	84700	broad.mit.edu	37	22	26423107	26423107	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:26423107C>T	uc003abz.1	+	42	7417	c.7167C>T	c.(7165-7167)tcC>tcT	p.S2389S	MYO18B_uc003aca.1_Silent_p.S2270S|MYO18B_uc010guy.1_Silent_p.S2271S|MYO18B_uc010guz.1_Silent_p.S2269S|MYO18B_uc011aka.1_Silent_p.S1543S|MYO18B_uc011akb.1_Silent_p.S1902S|MYO18B_uc010gva.1_Silent_p.S372S|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2389						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						GTCTGGAGTCCTCTGTGGACG	0.597000														78			48		0	0	0.003610	0	0
DHRS2	10202	broad.mit.edu	37	14	24114504	24114504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:24114504G>A	uc001wkt.4	+	8	1343	c.896G>A	c.(895-897)gGa>gAa	p.G299E	DHRS2_uc001wku.4_3'UTR|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCAGGCCCAGGAGCCTGAGGG	0.592000														299			184		0	0	0.003610	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7986944	7986944	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:7986944T>C	uc003mxx.4	+	0	610	c.175T>C	c.(175-177)Tca>Cca	p.S59P	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		TGTCGATTCCTCAGGAGAGAC	0.512000														108			51		0	0	0.003610	0	0
PRDM14	63978	broad.mit.edu	37	8	70978537	70978537	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:70978537T>A	uc003xym.3	-	4	1318	c.1116A>T	c.(1114-1116)aaA>aaT	p.K372N		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TATCCAGAAATTTCTCATAGC	0.512000														332			229		0	0	0.003610	0	0
POU6F2	11281	broad.mit.edu	37	7	39379267	39379267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:39379267C>T	uc003thb.2	+	5	681	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	POU6F2_uc022acb.1_Nonsense_Mutation_p.Q180*|POU6F2_uc010kxo.3_Nonsense_Mutation_p.Q172*	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	180	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTCCCAGCTCcagcagctcca	0.597000														118			68		0	0	0.003610	0	0
SNAP25	6616	broad.mit.edu	37	20	10273863	10273863	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:10273863A>C	uc002wnq.2	+	4	430	c.218A>C	c.(217-219)gAa>gCa	p.E73A	SNAP25_uc002wnr.2_Intron|SNAP25_uc002wns.2_Missense_Mutation_p.E10A|SNAP25_uc010gca.2_Intron	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	73	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GACATGAAAGAAGCAGAAAAG	0.443000														86			31		0	0	0.003271	0	0
CYFIP2	26999	broad.mit.edu	37	5	156723780	156723780	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:156723780C>T	uc021ygm.1	+	4	520	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	CYFIP2_uc011ddn.2_Nonsense_Mutation_p.Q103*|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Nonsense_Mutation_p.Q128*|CYFIP2_uc021ygo.1_Nonsense_Mutation_p.Q128*|CYFIP2_uc003lwt.3_Nonsense_Mutation_p.Q7*|CYFIP2_uc011ddp.2_5'UTR	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	129					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGTATTTTCAGGTGAGTGG	0.498000														91			141		0	0	0.003610	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000														221			6		0	0	0.001168	0	0
XKR5	389610	broad.mit.edu	37	8	6690347	6690347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:6690347G>A	uc022aqv.1	-	1	285	c.134C>T	c.(133-135)cCc>cTc	p.P45L	XKR5_uc003wqq.3_5'UTR|LOC100652791_uc022aqw.1_5'Flank	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	45						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CAAGAACCCGGGCAGGAGGAC	0.602000														299			175		0	0	0.003610	0	0
LRP1	4035	broad.mit.edu	37	12	57600328	57600328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:57600328C>T	uc001snd.3	+	75	12129	c.11663C>T	c.(11662-11664)tCg>tTg	p.S3888L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3888					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCCCCATTCGGCTTACGAG	0.587000														190			199		0	0	0.003610	0	0
CHD6	84181	broad.mit.edu	37	20	40079712	40079712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:40079712C>T	uc002xka.1	-	22	3735	c.3557G>A	c.(3556-3558)gGg>gAg	p.G1186E		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1186					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTCTTCTTCCCCTTCCTCCC	0.522000														54			31		0	0	0.002096	0	0
SLC14A2	8170	broad.mit.edu	37	18	43252881	43252881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:43252881C>T	uc002lbe.3	+	16	3062	c.2246C>T	c.(2245-2247)cCc>cTc	p.P749L	SLC14A2_uc010dnj.3_Missense_Mutation_p.P749L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	749						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAGCCATCCCCGTTGGAATT	0.488000														97			42		0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76522770	76522770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:76522770G>A	uc010dhp.2	-	23	3799	c.3674C>T	c.(3673-3675)tCc>tTc	p.S1225F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCGCTGAAGGAGAACGGGGC	0.557000														222			89		0	0	0.003610	0	0
CASR	846	broad.mit.edu	37	3	122001056	122001056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122001056C>T	uc003eew.4	+	5	2173	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	CASR_uc003eev.4_Missense_Mutation_p.P569S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	569					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.A579T(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTGGAGTGTCCTGATGGGGA	0.602000														517			295		0	0	0.003610	0	0
SAMD7	344658	broad.mit.edu	37	3	169656145	169656145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:169656145C>T	uc003fgd.3	+	8	1459	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	SAMD7_uc003fge.3_Missense_Mutation_p.L398F|SAMD7_uc011bpo.2_Missense_Mutation_p.L299F	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	398										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAGAAAACTCTTTCATTTCC	0.333000														115			66		0	0	0.003610	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518286	41518286	+	Missense_Mutation	SNP	G	A	A	rs45466193		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:41518286G>A	uc002opr.1	+	6	1055	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.E150K	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	350					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.E350G(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GCCATACACAGAGGCAGTCAT	0.512000														92			62		0	0	0.003610	0	0
PPFIA2	8499	broad.mit.edu	37	12	81733043	81733043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:81733043G>A	uc001szo.2	-	20	2625	c.2464C>T	c.(2464-2466)Cac>Tac	p.H822Y	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.H748Y|PPFIA2_uc021rbh.1_Missense_Mutation_p.H723Y|PPFIA2_uc021rbi.1_Missense_Mutation_p.H822Y|PPFIA2_uc021rbj.1_Missense_Mutation_p.H822Y|PPFIA2_uc021rbk.1_Missense_Mutation_p.H804Y|PPFIA2_uc021rbl.1_Missense_Mutation_p.H822Y|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.H389Y|PPFIA2_uc021rbf.1_Missense_Mutation_p.H39Y	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	748										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGGGCTTTGTGAAGAGAGTCT	0.443000														15			6		0	0	0.001984	0	0
DGKQ	1609	broad.mit.edu	37	4	961364	961364	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:961364G>A	uc003gbw.3	-	7	1034	c.960C>T	c.(958-960)tcC>tcT	p.S320S	DGKQ_uc010ibn.3_Silent_p.S320S	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	320					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCAGGCGGGACACCGTGA	0.672000														427			93		0	0	0.003610	0	0
DUSP5	1847	broad.mit.edu	37	10	112266753	112266753	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:112266753T>G	uc001kzd.3	+	2	844	c.589T>G	c.(589-591)Tgc>Ggc	p.C197G		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	197	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TGCATCCAAGTGCGAGTTCCT	0.547000														618			289		0	0	0.003610	0	0
GRK4	2868	broad.mit.edu	37	4	2986330	2986330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:2986330C>T	uc003ggn.1	+	1	598	c.143C>T	c.(142-144)tCc>tTc	p.S48F	GRK4_uc003ggo.1_Missense_Mutation_p.S48F|GRK4_uc003ggp.1_Intron|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	48	N-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTAGACATTCCATTGGTGAG	0.403000														128			27		0	0	0.004656	0	0
MFSD1	64747	broad.mit.edu	37	3	158519991	158519991	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:158519991A>T	uc003fcl.2	+	0	277	c.197A>T	c.(196-198)gAc>gTc	p.D66V	MFSD1_uc011bow.2_Missense_Mutation_p.D66V|MFSD1_uc003fcm.2_Non-coding_Transcript|MFSD1_uc003fcn.2_5'UTR	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	17					transmembrane transport	integral to membrane		p.L66I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCGGCCCTGACGAGGCCGAC	0.692000														159			102		0	0	0.003610	0	0
FSCN3	29999	broad.mit.edu	37	7	127235623	127235623	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:127235623G>A	uc003vmd.2	+	1	626	c.407G>A	c.(406-408)tGg>tAg	p.W136*	FSCN3_uc003vmc.1_Nonsense_Mutation_p.W91*|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_Nonsense_Mutation_p.W2*|FSCN3_uc010llc.2_Nonsense_Mutation_p.W136*	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	136						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TACCACATGTGGACCCCCCGA	0.592000														216			138		0	0	0.003610	0	0
ATR	545	broad.mit.edu	37	3	142180908	142180908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:142180908G>A	uc003eux.4	-	41	7188	c.7066C>T	c.(7066-7068)Cgt>Tgt	p.R2356C	ATR_uc003euy.1_Missense_Mutation_p.R242C	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2356	PI3K/PI4K.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTCTTCTACGAGACTCTGCA	0.294000								Other conserved DNA damage response genes						275			149		0	0	0.003610	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325399	47325399	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:47325399G>A	uc001cqo.1	-	8		c.1169C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CTACCGGTGCGTAGAGGCGGA	0.473000														83			16		0	0	0.003163	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154633	9154633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:9154633G>A	uc003jek.2	-	11	2160	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L		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.	483	Sema.				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						CCTCTTCAGGGGGATCTTGAC	0.637000														39			23		0	0	0.003330	0	0
PSG3	5671	broad.mit.edu	37	19	43372477	43372477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:43372477G>A	uc002ovd.1	-	4	1157	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Missense_Mutation_p.S247L|PSG3_uc002ova.2_Missense_Mutation_p.S247L|PSG3_uc002ouz.2_Missense_Mutation_p.S340L|PSG3_uc002ovb.3_Missense_Mutation_p.S340L	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	340	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATAGGTGAATGAAGGGTAAAT	0.468000														145			69		0	0	0.003610	0	0
FDPS	2224	broad.mit.edu	37	1	155279920	155279920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:155279920C>T	uc001fkc.2	+	2	482	c.263C>T	c.(262-264)tCc>tTc	p.S88F	FDPS_uc021paw.1_Missense_Mutation_p.S22F|FDPS_uc001fkd.2_Missense_Mutation_p.S22F|FDPS_uc021pax.1_Intron|FDPS_uc001fke.2_Missense_Mutation_p.S88F	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	88					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CAGCACTTCTCCCAGATCGTT	0.502000														514			188		0	0	0.003610	0	0
NME7	29922	broad.mit.edu	37	1	169267912	169267912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:169267912C>T	uc001gfu.3	-	5	768	c.530G>A	c.(529-531)gGa>gAa	p.G177E	NME7_uc001gft.3_Missense_Mutation_p.G141E|NME7_uc010plq.2_Non-coding_Transcript|NME7_uc001gfv.1_Missense_Mutation_p.G177E	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	177					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GTTTGCAGGTCCCAGCAGTCT	0.443000														66			25		0	0	0.002780	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272687	81272687	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:81272687C>T	uc009xrx.3	+	0	331	c.282C>T	c.(280-282)atC>atT	p.I94I	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	94					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGATTGGCATCCAGGATGGGT	0.493000														484			12		0	0	0.004878	0	0
TMX4	56255	broad.mit.edu	37	20	7963024	7963025	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:7963024_7963025GG>AA	uc002wmx.1	-	7	1056_1057	c.923_924CC>TT	c.(922-924)acc>aTT	p.T308I		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 4 (TMX4), mRNA.	308	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CTTCCTCCCGGGTCACACCGTC	0.579000														38			18		0	0	0.004672	0	0
ADI1	55256	broad.mit.edu	37	2	3504605	3504605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:3504605G>A	uc002qxp.4	-	2	492	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	ADI1_uc010yiq.2_Non-coding_Transcript	NM_018269	NP_060739	Q9BV57	MTND_HUMAN	Homo sapiens acireductone dioxygenase 1 (ADI1), mRNA.	134					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		ACCGTGAAGCGGTGATAGATC	0.632000														240			137		0	0	0.003610	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29885032	29885032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:29885032G>A	uc010vec.2	-	12	2368	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.P638L|SEZ6L2_uc002dur.4_Missense_Mutation_p.P638L|SEZ6L2_uc002duq.4_Missense_Mutation_p.P708L|SEZ6L2_uc010ved.2_Missense_Mutation_p.P664L|SEZ6L2_uc002dus.4_Missense_Mutation_p.P594L	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	708	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCTCGCCAGGGTCAGCACA	0.637000														255			204		0	0	0.003610	0	0
KSR1	8844	broad.mit.edu	37	17	25924425	25924425	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:25924425C>T	uc010crg.3	+	9	1462	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Silent_p.P141P	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	475					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCCCCAACCCCTCACCTGGCC	0.617000														120			60		0	0	0.003610	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556818	173556818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:173556818G>A	uc001giz.2	-	4	932	c.509C>T	c.(508-510)tCa>tTa	p.S170L	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	170					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGTTTTTAGTGAATTCACAGA	0.299000														55			24		0	0	0.004656	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629200	1629200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:1629200G>A	uc001ltw.1	-	0	494	c.416C>T	c.(415-417)tCa>tTa	p.S139L	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	139	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCACAGCCTGAGGAGCAGCA	0.627000														663			185		0	0	0.003610	0	0
CCR3	1232	broad.mit.edu	37	3	46306989	46306989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:46306989C>T	uc003cpl.2	+	2	1470	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	CCR3_uc003cpg.2_Missense_Mutation_p.H114Y|CCR3_uc003cpk.2_Missense_Mutation_p.H135Y|CCR3_uc003cpi.2_Missense_Mutation_p.H114Y|CCR3_uc010hjb.2_Missense_Mutation_p.H132Y|CCR3_uc003cpj.2_Missense_Mutation_p.H114Y|CCR3_uc021wwz.1_Missense_Mutation_p.H114Y	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	114					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)		AGGGTTTTATCACACAGGCTT	0.512000														61			50		0	0	0.003610	0	0
DEPDC1	55635	broad.mit.edu	37	1	68955157	68955157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:68955157C>T	uc001dem.4	-	2	566	c.449G>A	c.(448-450)aGg>aAg	p.R150K	DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Missense_Mutation_p.R150K	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	150					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAATCCATGCCTTTTAGGAGT	0.274000														184			109		0	0	0.003610	0	0
ZNF182	7569	broad.mit.edu	37	X	47837015	47837015	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:47837015G>A	uc004dir.3	-	6	817	c.471C>T	c.(469-471)ccC>ccT	p.P157P	ZNF182_uc004dis.3_Silent_p.P138P|ZNF182_uc004dit.3_Silent_p.P157P	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P157P(2)|p.P138P(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CGTGTTTATCGGGTCTTTGTA	0.328000														30			62		0	0	0.003610	0	0
FOLH1	2346	broad.mit.edu	37	11	49178313	49178313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:49178313G>A	uc001ngy.3	-	14	1840	c.1579C>T	c.(1579-1581)Cga>Tga	p.R527*	FOLH1_uc001ngx.3_5'Flank|FOLH1_uc009yly.3_Nonsense_Mutation_p.R512*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.R512*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.R527*|FOLH1_uc009yma.3_Nonsense_Mutation_p.R219*	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	527	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATTCCAAGTCGTTGGAAGAAC	0.303000														85			22		0	0	0.007291	0	0
CASR	846	broad.mit.edu	37	3	122002901	122002901	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:122002901C>T	uc003eew.4	+	6	2568	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	CASR_uc003eev.4_Silent_p.N700N	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	700					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.N700K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGAAAACCAACCGTGTCCTCC	0.602000														353			191		0	0	0.003610	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180678	142180678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142180678C>T	uc011krz.2	-	1	230	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.G61R|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCCTCAGCCCCATGCCTGGG	0.498000														434			105		0	0	0.003610	0	0
SWI5	375757	broad.mit.edu	37	9	131038524	131038524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:131038524C>T	uc004bup.3	+	0	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.P34S	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	34					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCCGGCTTTCCTTGGGTGCG	0.682000														77			151		0	0	0.003610	0	0
MAGI1	9223	broad.mit.edu	37	3	65479187	65479187	+	Splice_Site	SNP	C	T	T	rs139843075		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:65479187C>T	uc003dmn.3	-	3	1076	c.550_splice	c.e3+1	p.G184_splice	MAGI1_uc003dmm.3_Splice_Site_p.G184_splice|MAGI1_uc003dmo.3_Splice_Site_p.G184_splice|MAGI1_uc003dmp.3_Splice_Site_p.G184_splice|MAGI1_uc010hny.2_Splice_Site_p.G68_splice|MAGI1_uc021xac.1_Splice_Site_p.G184_splice|MAGI1_uc003dmr.3_Splice_Site_p.G184_splice	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	184	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGTAACTCACCTTCATAGGTG	0.488000														39			18		0	0	0.006122	0	0
BMP5	653	broad.mit.edu	37	6	55638936	55638936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:55638936C>T	uc003pcq.3	-	3	1650	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	BMP5_uc011dxf.2_Missense_Mutation_p.R313Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	313					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R313*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCACGGATCGAAGAAGTAC	0.453000														48			35		0	0	0.002836	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913610	136913610	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:136913610T>A	uc003qhc.3	-	21	3382	c.3021A>T	c.(3019-3021)gaA>gaT	p.E1007D	MAP3K5_uc011edj.2_Missense_Mutation_p.E254D|MAP3K5_uc011edk.1_Missense_Mutation_p.E853D	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1007					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGACATCTCTTTCTCCGCAGG	0.473000														57			128		0	0	0.003610	0	0
CDK17	5128	broad.mit.edu	37	12	96683000	96683000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:96683000G>A	uc001tep.2	-	10	1695	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	CDK17_uc009ztk.3_Missense_Mutation_p.R355W|CDK17_uc010svb.2_Missense_Mutation_p.R302W	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	355	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TCAGGTGGCCGGTACCATAGT	0.398000														57			9		0	0	0.004482	0	0
ASTN1	460	broad.mit.edu	37	1	176927615	176927615	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:176927615G>A	uc001glc.3	-	9	1814	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	ASTN1_uc001glb.1_Silent_p.F534F|ASTN1_uc001gld.1_Silent_p.F534F|ASTN1_uc009wwx.1_Silent_p.F534F	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	542					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGTGTAGGTGAATCTGCAGG	0.552000														30			12		0	0	0.000978	0	0
AMACR	23600	broad.mit.edu	37	5	33989322	33989322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:33989322C>T	uc003jij.3	-	4	1121	c.1025G>A	c.(1024-1026)aGg>aAg	p.R342K	AMACR_uc003jig.3_Missense_Mutation_p.R342K|AMACR_uc003jih.3_3'UTR	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	342				FKR -> SKG (in Ref. 1; CAB44062).	bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GAAAGGATCCCTTTTGAAAGA	0.473000														255			52		0	0	0.003610	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171298	150171298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:150171298G>A	uc003whj.3	+	3	1211	c.881G>A	c.(880-882)aGa>aAa	p.R294K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	294						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.W293R(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGAAGCTGGAGAAAAAAGAAA	0.468000														102			57		0	0	0.003610	0	0
DPYD	1806	broad.mit.edu	37	1	97981408	97981408	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:97981408G>A	uc001drv.3	-	12	1751	c.1614C>T	c.(1612-1614)gcC>gcT	p.A538A		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	538					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACTTCAATCCGGCCATTTCTA	0.453000														17			9		0	0	0.004482	0	0
PAMR1	25891	broad.mit.edu	37	11	35492367	35492367	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:35492367C>T	uc001mwf.3	-	5	538	c.495_splice	c.e5-1	p.R165_splice	PAMR1_uc001mwg.3_Splice_Site_p.R165_splice|PAMR1_uc010rew.2_Intron|PAMR1_uc010rex.2_Splice_Site_p.R125_splice	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	165	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATGACAAATCTGTGGGTGGA	0.547000														14			4		0	0	0.009096	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762826	92762826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:92762826G>A	uc003umh.1	-	4	3675	c.2459C>T	c.(2458-2460)tCc>tTc	p.S820F	SAMD9L_uc003umj.1_Missense_Mutation_p.S820F|SAMD9L_uc003umi.1_Missense_Mutation_p.S820F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S820F|SAMD9L_uc003umk.1_Missense_Mutation_p.S820F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S820F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S820F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S820F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	820										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTAAAACGGAATGGATGGC	0.378000														35			18		0	0	0.004990	0	0
PHF20	51230	broad.mit.edu	37	20	34505530	34505530	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:34505530C>T	uc002xek.1	+	12	2061	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCTATGACTTCGAGGTGGTCC	0.502000														68			57		0	0	0.003610	0	0
DAB1	1600	broad.mit.edu	37	1	57481073	57481073	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:57481073G>A	uc009vzx.1	-	11	1247	c.927C>T	c.(925-927)tcC>tcT	p.S309S	DAB1_uc001cyt.1_Silent_p.S307S|DAB1_uc001cyq.1_Silent_p.S307S|DAB1_uc001cyr.1_Silent_p.S223S|DAB1_uc009vzw.1_Silent_p.S291S|DAB1_uc001cys.1_Silent_p.S309S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	342					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GACCCCAGAAGGACGGGAGGA	0.607000														182			98		0	0	0.003610	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490491	141490491	+	Silent	SNP	C	T	T	rs150352868		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:141490491C>T	uc003vwr.1	+	0	475	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	110					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCACGACCTTCGATCGCCCGG	0.488000														261			61		0	0	0.003610	0	0
ILDR1	286676	broad.mit.edu	37	3	121707240	121707240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:121707240G>A	uc003ees.3	-	7	1818	c.1615C>T	c.(1615-1617)Cat>Tat	p.H539Y	ILDR1_uc003eeq.3_Missense_Mutation_p.H507Y|ILDR1_uc003eer.3_Missense_Mutation_p.H495Y|ILDR1_uc010hrg.3_Missense_Mutation_p.H450Y	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	539						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTTCCACTATGAGAGCTGTCT	0.443000														145			101		0	0	0.003610	0	0
OR5K4	403278	broad.mit.edu	37	3	98073098	98073098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:98073098C>T	uc011bgv.2	+	0	401	c.401C>T	c.(400-402)aCc>aTc	p.T134I		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H133H(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CAGTACCACACCATGATGTCC	0.473000														66			37		0	0	0.003755	0	0
GZMA	3001	broad.mit.edu	37	5	54403645	54403645	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:54403645T>C	uc003jpm.3	+	2	276	c.239T>C	c.(238-240)cTt>cCt	p.L80P		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	80	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.L80I(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CAGGTCATTCTTGGGGCTCAC	0.413000														23			11		0	0	0.001368	0	0
AGAP3	116988	broad.mit.edu	37	7	150814517	150814517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:150814517G>A	uc003wjg.1	+	3	541	c.538G>A	c.(538-540)Gat>Aat	p.D180N	AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Missense_Mutation_p.D180N|AGAP3_uc010lpy.1_Missense_Mutation_p.D180N|AGAP3_uc003wjh.1_Missense_Mutation_p.D360N	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	144	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTGATCCGAGATGAAGGAGG	0.607000														592			329		0	0	0.003610	0	0
OR51B5	282763	broad.mit.edu	37	11	5364499	5364499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:5364499C>T	uc001map.1	-	0	256	c.256G>A	c.(256-258)Gat>Aat	p.D86N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.D86N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCTGTGATCCAGCCAGAGG	0.557000														13			6		0	0	0.001168	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362047	105362047	+	Silent	SNP	C	A	A	rs148878459		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:105362047C>A	uc010qqu.1	-	11	2740	c.2673G>T	c.(2671-2673)gcG>gcT	p.A891A	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Silent_p.A783A|SH3PXD2A_uc010qqt.1_Silent_p.A825A|SH3PXD2A_uc009xxn.1_Silent_p.A783A|SH3PXD2A_uc001kxj.1_Silent_p.A948A	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	976	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGGCCTGACCGCCACCTGCC	0.657000														216			162		1.7288e-48	2.53988e-48	0.003610	1	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														11			3		0	0	0.009096	0	0
CNOT6L	246175	broad.mit.edu	37	4	78665876	78665876	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:78665876A>G	uc011ccd.2	-	6	844	c.713T>C	c.(712-714)cTt>cCt	p.L238P	CNOT6L_uc003hks.3_Missense_Mutation_p.L238P|CNOT6L_uc003hkt.1_Missense_Mutation_p.L81P|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	238					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGTTACCTGAAGACTAATGAT	0.383000														20			22		0	0	0.002299	0	0
CASC3	22794	broad.mit.edu	37	17	38325687	38325687	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38325687C>T	uc010cwt.1	+	11	2371	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	CASC3_uc002hue.3_Silent_p.P692P	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	692	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCATCAAGCCCCCTCCACCTG	0.562000														313			232		0	0	0.003610	0	0
MGAT3	4248	broad.mit.edu	37	22	39884729	39884729	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:39884729C>T	uc003axv.4	+	1	1616	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	MGAT3_uc010gxy.3_Silent_p.I459I	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	459					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCGGCCTGATCCGCACCGGGG	0.627000														177			115		0	0	0.003610	0	0
BANK1	55024	broad.mit.edu	37	4	102946496	102946496	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:102946496T>C	uc003hvy.4	+	8	1698	c.1424T>C	c.(1423-1425)gTt>gCt	p.V475A	BANK1_uc003hvx.4_Missense_Mutation_p.V460A|BANK1_uc010ill.3_Missense_Mutation_p.V342A|BANK1_uc003hvz.4_Missense_Mutation_p.V445A	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	475					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CCACTAGAGGTTGGCAGTGAG	0.473000														33			52		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141759749	141759749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:141759749G>A	uc003vwy.3	+	32	4096	c.4042G>A	c.(4042-4044)Gac>Aac	p.D1348N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1348	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAATGATGGAGACATTGTCTG	0.517000														6			6		0	0	0.001168	0	0
NDST3	9348	broad.mit.edu	37	4	119158332	119158332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:119158332C>T	uc003ibx.3	+	9	2478	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	NDST3_uc011cgf.1_3'UTR	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	692	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAGATTATCACCATTCTCATT	0.453000														90			74		0	0	0.003610	0	0
GAD2	2572	broad.mit.edu	37	10	26518625	26518625	+	Silent	SNP	C	T	T	rs145045666		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:26518625C>T	uc001isp.2	+	6	1262	c.759C>T	c.(757-759)atC>atT	p.I253I	GAD2_uc001isq.2_Silent_p.I253I	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	253					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.I253I(4)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CCATGATGATCGCACGCTTTA	0.428000														95			47		0	0	0.003610	0	0
SAMD7	344658	broad.mit.edu	37	3	169639067	169639067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:169639067G>A	uc003fgd.3	+	3	419	c.152G>A	c.(151-153)gGa>gAa	p.G51E	SAMD7_uc003fge.3_Missense_Mutation_p.G51E|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	51										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCCCAATTTGGATCCTCTGTT	0.408000														121			69		0	0	0.003610	0	0
POM121L12	285877	broad.mit.edu	37	7	53103641	53103641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:53103641G>A	uc003tpz.3	+	0	293	c.277G>A	c.(277-279)Gtc>Atc	p.V93I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	93										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCAGCGGGTGGTCTCCGAGGG	0.697000														152			92		0	0	0.003610	0	0
ABCD3	5825	broad.mit.edu	37	1	94955483	94955483	+	Missense_Mutation	SNP	C	T	T	rs148848670		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:94955483C>T	uc010oto.2	+	15	1448	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	ABCD3_uc001dqn.4_Missense_Mutation_p.P425L|ABCD3_uc010otp.2_Missense_Mutation_p.P352L|ABCD3_uc009wdr.3_Missense_Mutation_p.P315L|ABCD3_uc001dqo.4_Missense_Mutation_p.P113L	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	425	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.P425H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CAAGTCATTCCCTTGATACCT	0.323000														55			21		0	0	0.001882	0	0
ADO	84890	broad.mit.edu	37	10	64565099	64565099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:64565099G>A	uc001jmg.3	+	0	584	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.	94							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTACGAGACGGACGGCTTCAG	0.667000														104			55		0	0	0.003610	0	0
C10orf12	26148	broad.mit.edu	37	10	98715083	98715083	+	Nonsense_Mutation	SNP	C	T	T	rs150929680		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:98715083C>T	uc001kmu.2	+	7	1269	c.706C>T	c.(706-708)Caa>Taa	p.Q236*	C10orf12_uc001kmr.3_Nonsense_Mutation_p.Q236*|C10orf12_uc001kms.2_Nonsense_Mutation_p.Q236*|C10orf12_uc009xvg.2_Intron|C10orf12_uc021pwp.1_5'UTR	NM_032440	NP_115816	Q8N655	CJ012_HUMAN	Homo sapiens ligand dependent nuclear receptor corepressor (LCOR), transcript variant 1, mRNA.	1052										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATGGCACTTCAAGCAAAACA	0.438000														123			52		0	0	0.003610	0	0
ARRB2	409	broad.mit.edu	37	17	4621956	4621957	+	Nonsense_Mutation	DNP	TC	AT	AT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:4621956_4621957TC>AT	uc010vsg.2	+	9	1047_1048	c.819_820TC>AT	c.(817-822)tgtcct>tgATct	p.273_274CP>*S	ARRB2_uc002fyj.3_Nonsense_Mutation_p.252_253CP>*S|ARRB2_uc002fyk.3_Nonsense_Mutation_p.237_238CP>*S|ARRB2_uc002fyl.3_Nonsense_Mutation_p.252_253CP>*S|ARRB2_uc002fym.3_Nonsense_Mutation_p.237_238CP>*S|ARRB2_uc002fyn.3_Nonsense_Mutation_p.60_61CP>*S	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	252	Interaction with TRAF6.				G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						AGTACAAGTGTCCTGTGGCTCA	0.559000														198			465		0	0	0.004672	0	0
GALM	130589	broad.mit.edu	37	2	38903167	38903167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:38903167G>A	uc002rqy.3	+	1	556	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_138801	NP_620156	Q96C23	GALM_HUMAN	Homo sapiens galactose mutarotase (aldose 1-epimerase) (GALM), mRNA.	102					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CATTAACAAGGAACCCAACAG	0.498000														175			97		0	0	0.003610	0	0
CRP	1401	broad.mit.edu	37	1	159683618	159683618	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:159683618G>A	uc001ftw.3	-	1	476	c.372C>T	c.(370-372)atC>atT	p.I124I	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	124	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGAACTCCACGATCCCTGAGG	0.522000														603			222		0	0	0.003610	0	0
PSG8	440533	broad.mit.edu	37	19	43262211	43262211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:43262211C>T	uc002ouo.2	-	2	750	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.E218K|PSG8_uc010ein.3_Missense_Mutation_p.E96K|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	218	Ig-like C2-type 1.					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)				TTCCGTATTTCACATTCATAG	0.512000														461			261		0	0	0.003610	0	0
SRRM4	84530	broad.mit.edu	37	12	119568606	119568606	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:119568606C>T	uc001txa.2	+	7	1126	c.738C>T	c.(736-738)ctC>ctT	p.L246L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	246	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GTCAACCCCTCCAGATGCTTG	0.622000														28			31		0	0	0.003755	0	0
ARID2	196528	broad.mit.edu	37	12	46246056	46246056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:46246056C>T	uc001ros.1	+	14	4150	c.4150C>T	c.(4150-4152)Cat>Tat	p.H1384Y	ARID2_uc001ror.3_Missense_Mutation_p.H1384Y|ARID2_uc009zkg.1_Missense_Mutation_p.H840Y|ARID2_uc009zkh.1_Missense_Mutation_p.H1011Y|ARID2_uc001rou.1_Missense_Mutation_p.H718Y	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1384					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACTTCCAATCATGTAGGAAA	0.348000			"""N, S, F"""		hepatocellular carcinoma									19			7		0	0	0.001984	0	0
EFTUD1	79631	broad.mit.edu	37	15	82456262	82456262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:82456262G>A	uc002bgt.1	-	15	1983	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L	EFTUD1_uc002bgu.1_Missense_Mutation_p.P554L	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	605					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TATAAATGGTGGGCAGGATGG	0.413000														50			28		0	0	0.006320	0	0
NALCN	259232	broad.mit.edu	37	13	101944421	101944421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:101944421C>T	uc001vox.1	-	8	1156	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	NALCN_uc001voy.3_Missense_Mutation_p.E38K|NALCN_uc001voz.2_Missense_Mutation_p.E323K|NALCN_uc001vpa.2_Missense_Mutation_p.E323K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	323						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAAATGTTTCAATGATAACA	0.408000														17			10		0	0	0.001368	0	0
IFT74	80173	broad.mit.edu	37	9	26962038	26962038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:26962038C>T	uc010mja.3	+	1	200	c.73C>T	c.(73-75)Cct>Tct	p.P25S	IFT74_uc010mjb.3_Missense_Mutation_p.P25S|IFT74_uc003zqf.4_Missense_Mutation_p.P25S|IFT74_uc003zqg.4_Missense_Mutation_p.P25S	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	25						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGGAAGGCCTCCTTCTGGGAT	0.468000														209			123		0	0	0.003610	0	0
ZNF133	7692	broad.mit.edu	37	20	18295778	18295778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:18295778C>T	uc010zrv.1	+	4	495	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	ZNF133_uc010gcq.2_Missense_Mutation_p.P95S|ZNF133_uc010zrw.1_Missense_Mutation_p.P32S|ZNF133_uc010gcr.2_Missense_Mutation_p.P95S|ZNF133_uc010zrx.1_5'UTR|ZNF133_uc002wql.4_Missense_Mutation_p.P94S|ZNF133_uc010gcs.3_Missense_Mutation_p.P94S|ZNF133_uc010zry.2_5'UTR|ZNF133_uc002wqm.2_Missense_Mutation_p.P95S	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	95						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TCAGAAATTCCCCATGCAGCA	0.552000														174			96		0	0	0.003610	0	0
EPB41L1	2036	broad.mit.edu	37	20	34761873	34761873	+	Silent	SNP	A	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:34761873A>G	uc002xfb.3	+	1	345	c.174A>G	c.(172-174)gaA>gaG	p.E58E	EPB41L1_uc002xeu.3_Intron|EPB41L1_uc010zvo.1_Silent_p.E58E|EPB41L1_uc002xev.3_Silent_p.E58E|EPB41L1_uc002xew.3_Intron|EPB41L1_uc002xex.3_Intron|EPB41L1_uc002xey.3_Silent_p.E58E|EPB41L1_uc002xez.3_Intron	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	58					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGCCTGCTGAACAGGTGTGTG	0.607000														53			33		0	0	0.002836	0	0
PCDH15	65217	broad.mit.edu	37	10	55582777	55582777	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:55582777A>C	uc010qhy.1	-	34	5125	c.4730T>G	c.(4729-4731)aTt>aGt	p.I1577S	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.I1572S|PCDH15_uc021pqz.1_Missense_Mutation_p.I1547S|PCDH15_uc010qhv.1_Missense_Mutation_p.I1567S|PCDH15_uc010qhw.1_Missense_Mutation_p.I1530S|PCDH15_uc010qhx.1_Missense_Mutation_p.I1501S|PCDH15_uc010qhz.1_Missense_Mutation_p.I1572S|PCDH15_uc010qia.1_Missense_Mutation_p.I1550S|PCDH15_uc001jju.1_Missense_Mutation_p.I1570S|PCDH15_uc010qib.1_Missense_Mutation_p.I1547S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1570					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGCCTCTGAATCTTTTCTCT	0.458000										HNSCC(58;0.16)				312			195		0	0	0.003610	0	0
REG1B	5968	broad.mit.edu	37	2	79313493	79313493	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:79313493C>T	uc002sny.2	-	4	433	c.321_splice	c.e4+1	p.K107_splice	REG1B_uc010ffv.1_Silent_p.K107K|REG1B_uc010ffw.3_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	107	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCAGACTGACCTTTTTTGGGT	0.483000														22			7		0	0	0.004482	0	0
SLC38A9	153129	broad.mit.edu	37	5	54923779	54923779	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:54923779A>T	uc003jqf.2	-	14	2052	c.1460T>A	c.(1459-1461)aTt>aAt	p.I487N	SLC38A9_uc003jqd.2_Missense_Mutation_p.I424N|SLC38A9_uc010ivx.2_Missense_Mutation_p.I424N|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Missense_Mutation_p.I358N	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	487					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TCCCACAATAATTAGATTAAG	0.368000														60			61		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82579048	82579048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82579048G>A	uc003uhx.2	-	5	11145	c.10856C>T	c.(10855-10857)tCc>tTc	p.S3619F	PCLO_uc003uhv.2_Missense_Mutation_p.S3619F|PCLO_uc010lec.3_Missense_Mutation_p.S584F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3550					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						GACTTTGGGGGATTTGGGTGG	0.483000														69			34		0	0	0.003271	0	0
BIRC6	57448	broad.mit.edu	37	2	32715118	32715118	+	Silent	SNP	T	C	C	rs149077460		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:32715118T>C	uc010ezu.3	+	42	8240	c.8106T>C	c.(8104-8106)acT>acC	p.T2702T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2702					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CATCAATAACTAGCTTTCTCA	0.348000														89			81		0	0	0.003610	0	0
MAP4K4	9448	broad.mit.edu	37	2	102407207	102407207	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:102407207T>A	uc002tbc.3	+	2	527	c.149T>A	c.(148-150)tTg>tAg	p.L50*	MAP4K4_uc002tbf.3_Nonsense_Mutation_p.L50*|MAP4K4_uc002tbd.3_Nonsense_Mutation_p.L50*|MAP4K4_uc010yvy.2_Nonsense_Mutation_p.L50*|MAP4K4_uc002tbh.3_Nonsense_Mutation_p.L50*|MAP4K4_uc002tbg.3_Nonsense_Mutation_p.L50*|MAP4K4_uc002tbi.3_Nonsense_Mutation_p.L50*|MAP4K4_uc010fiw.1_5'UTR	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	50	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACGGGTCAGTTGGCAGCCATC	0.363000														5			4		0	0	0.009096	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566185	155566185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:155566185G>A	uc002tyv.1	+	1	968	c.773G>A	c.(772-774)gGg>gAg	p.G258E	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.G258E	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	258					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTTAGTACAGGGGCAGATCAA	0.473000														222			123		0	0	0.003610	0	0
C1orf173	127254	broad.mit.edu	37	1	75038879	75038879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:75038879C>T	uc001dgg.3	-	13	2734	c.2515G>A	c.(2515-2517)Gca>Aca	p.A839T		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	839	Glu-rich.							p.A839T(2)|p.A839E(1)|p.G838E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTCCCTCTGCCCCCCTTTCT	0.557000														34			23		0	0	0.002780	0	0
TEAD2	8463	broad.mit.edu	37	19	49850485	49850485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49850485G>A	uc002pnh.3	-	9	989	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	TEAD2_uc002png.3_Missense_Mutation_p.R294C|TEAD2_uc002pni.3_Missense_Mutation_p.R294C|TEAD2_uc002pnj.3_Missense_Mutation_p.R291C|TEAD2_uc010yao.2_Missense_Mutation_p.R163C|TEAD2_uc010emw.3_Missense_Mutation_p.R294C	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	291	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)|p.P294P(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGGGGGCCACGATCATATAGC	0.577000														583			363		0	0	0.003610	0	0
LGMN	5641	broad.mit.edu	37	14	93183739	93183739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:93183739C>T	uc001yav.3	-	4	665	c.304G>A	c.(304-306)Gac>Aac	p.D102N	LGMN_uc001yat.3_Missense_Mutation_p.D102N|LGMN_uc001yau.3_Missense_Mutation_p.D102N|LGMN_uc001yaw.3_Missense_Mutation_p.D102N	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	102					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CCAGTGTAGTCCTTCGGGACT	0.438000														554			320		0	0	0.003610	0	0
AFM	173	broad.mit.edu	37	4	74357752	74357752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:74357752G>A	uc003hhb.3	+	7	1038	c.1007G>A	c.(1006-1008)aGt>aAt	p.S336N		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	336	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTACTGACAGTGAAAATGTG	0.353000														27			39		0	0	0.002522	0	0
EPS8	2059	broad.mit.edu	37	12	15823810	15823810	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:15823810T>A	uc009zif.3	-	3	278	c.184A>T	c.(184-186)Ata>Tta	p.I62L	EPS8_uc001rdb.3_Missense_Mutation_p.I62L|EPS8_uc009zig.3_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	62					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TATTGAGATATATCTGACACA	0.368000														42			36		0	0	0.007835	0	0
CXorf36	79742	broad.mit.edu	37	X	45059964	45059964	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:45059964G>A	uc004dgg.2	-	0	183	c.108C>T	c.(106-108)tcC>tcT	p.S36S	CXorf36_uc004dgi.3_Silent_p.S36S	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	36						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GAGAAGAAAGGGAAGAAGCTG	0.572000														14			81		0	0	0.003610	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935899	82935899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:82935899C>T	uc010rsv.1	+	5	1011	c.589C>T	c.(589-591)Cac>Tac	p.H197Y	ANKRD42_uc001ozz.1_Missense_Mutation_p.H169Y|ANKRD42_uc001paa.3_Missense_Mutation_p.H197Y|ANKRD42_uc001pab.1_Missense_Mutation_p.H196Y			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	169										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCCTCTAGTTCACTTAGCAGC	0.328000														65			85		0	0	0.003610	0	0
NBEA	26960	broad.mit.edu	37	13	35770018	35770018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:35770018C>T	uc021rid.1	+	30	5479	c.4945C>T	c.(4945-4947)Cca>Tca	p.P1649S	NBEA_uc021ric.1_Missense_Mutation_p.P1646S|NBEA_uc010abi.3_Missense_Mutation_p.P305S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1649						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCTGCATTTCCAGACACCAT	0.328000														15			8		0	0	0.008291	0	0
OTOF	9381	broad.mit.edu	37	2	26706495	26706496	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:26706495_26706496CC>TT	uc002rhk.3	-	12	1353_1354	c.1226_1227GG>AA	c.(1225-1227)ggg>gAA	p.G409E		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	409	C2 2.				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)					CGGGGGGCACCCCCTCGGGGAG	0.604000														174			84		0	0	0.004672	0	0
LACTB2	51110	broad.mit.edu	37	8	71550843	71550843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:71550843C>T	uc003xyp.3	-	5	855	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	LOC286190_uc022avq.1_Intron	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Homo sapiens lactamase, beta 2 (LACTB2), mRNA.	255							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTAGCCATTTCATGTAAATTC	0.254000														62			39		0	0	0.006230	0	0
OR4K17	390436	broad.mit.edu	37	14	20586009	20586009	+	Silent	SNP	C	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:20586009C>A	uc001vwo.1	+	0	444	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTTGGTCTCCATGGCTTTTG	0.423000														65			23		9.95505e-16	1.45549e-15	0.002299	1	0
NOS1	4842	broad.mit.edu	37	12	117696935	117696935	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:117696935C>T	uc001twn.2	-	15	3079	c.2368_splice	c.e15-1	p.V790_splice	NOS1_uc021ren.1_Splice_Site_p.V454_splice|NOS1_uc021reo.1_Splice_Site_p.V454_splice|NOS1_uc001twm.2_Splice_Site_p.V790_splice	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	790	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGGACATCACCTAGGTGGGC	0.522000														44			41		0	0	0.008740	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160688299	160688299	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:160688299T>G	uc002ubb.4	-	28	3916	c.3842_splice	c.e28-1	p.N1281_splice	LY75-CD302_uc010fos.3_Splice_Site_p.N1281_splice|LY75-CD302_uc002ubc.4_Splice_Site_p.N1281_splice	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1281	C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATTTTGGATCTGTTGAATAAA	0.274000														29			12		0	0	0.000978	0	0
HSP90B3P	343477	broad.mit.edu	37	1	92109026	92109026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:92109026G>A	uc010osx.2	+	2	1053	c.1053G>A	c.(1051-1053)atG>atA	p.M351I						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		AGGAAGGAATGAAGTTTGATA	0.403000														34			12		0	0	0.001368	0	0
OR2A2	442361	broad.mit.edu	37	7	143807483	143807483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:143807483G>A	uc011ktz.2	+	0	808	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGGAGCAGGAGAAAATGCT	0.517000														50			28		0	0	0.009535	0	0
APLNR	187	broad.mit.edu	37	11	57004260	57004260	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:57004260C>T	uc001njo.3	-	0	668	c.219G>A	c.(217-219)gtG>gtA	p.V73V	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	73						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCAGGTCAGCCACCGCCAGGC	0.612000														184			159		0	0	0.003610	0	0
DDX60	55601	broad.mit.edu	37	4	169197322	169197322	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:169197322C>T	uc003irp.3	-	14	2281	c.1989G>A	c.(1987-1989)acG>acA	p.T663T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	663							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTAAATCTTTCGTGGTTTTAC	0.328000														19			59		0	0	0.003610	0	0
PRSS3	5646	broad.mit.edu	37	9	33797945	33797945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:33797945G>A	uc003ztj.4	+	2	541	c.490G>A	c.(490-492)Gac>Aac	p.D164N	PRSS3_uc003zti.4_Missense_Mutation_p.D121N|PRSS3_uc022bfu.1_Missense_Mutation_p.D100N|PRSS3_uc003ztl.4_Missense_Mutation_p.D107N	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	164	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCTGGACAATGACATCATGCT	0.552000														134			68		0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124377832	124377832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:124377832G>A	uc001lgk.1	+	37	4910	c.4804G>A	c.(4804-4806)Gaa>Aaa	p.E1602K	DMBT1_uc001lgl.1_Missense_Mutation_p.E1592K|DMBT1_uc001lgm.1_Missense_Mutation_p.E974K|DMBT1_uc021qaf.1_Missense_Mutation_p.E1602K|DMBT1_uc021qag.1_Missense_Mutation_p.E1592K|DMBT1_uc021qah.1_Missense_Mutation_p.E974K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1602K|DMBT1_uc010qtx.1_Missense_Mutation_p.E453K|DMBT1_uc009yab.1_Missense_Mutation_p.E305K|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1602	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATCATGAAGATGCTGG	0.512000														137			65		0	0	0.003610	0	0
EVC	2121	broad.mit.edu	37	4	5785473	5785473	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:5785473C>T	uc003gil.1	+	11	1942	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	586					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCCAGGAGCTCCTAGAGCAAG	0.562000														68			14		0	0	0.001855	0	0
RBL1	5933	broad.mit.edu	37	20	35668680	35668680	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:35668680G>A	uc002xgi.3	-	13	1858	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	RBL1_uc002xgj.1_Silent_p.F593F	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	593	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGTTATTTGGGAATATAACCT	0.333000														99			61		0	0	0.003610	0	0
FAM109B	150368	broad.mit.edu	37	22	42473325	42473325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42473325C>T	uc003bbz.3	+	2	215	c.28C>T	c.(28-30)Cac>Tac	p.H10Y	FAM109B_uc021wqi.1_Missense_Mutation_p.H10Y|C22orf32_uc003bca.3_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.	10					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GAGTGTAGCCCACTATGCACT	0.647000														452			240		0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71886052	71886052	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:71886052C>T	uc010fen.3	+	43	4941	c.4800C>T	c.(4798-4800)ccC>ccT	p.P1600P	DYSF_uc010fei.3_Silent_p.P1578P|DYSF_uc010feh.3_Silent_p.P1568P|DYSF_uc002sig.4_Silent_p.P1547P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.P1592P|DYSF_uc010fee.3_Silent_p.P1582P|DYSF_uc010fef.3_Silent_p.P1599P|DYSF_uc002sie.3_Silent_p.P1561P|DYSF_uc010feo.3_Silent_p.P1593P|DYSF_uc010fej.3_Silent_p.P1569P|DYSF_uc010fel.3_Silent_p.P1548P|DYSF_uc010fem.3_Silent_p.P1583P|DYSF_uc002sif.3_Silent_p.P1562P|DYSF_uc010fek.3_Silent_p.P1579P|DYSF_uc010yqy.2_Silent_p.P442P|DYSF_uc010yqz.2_Silent_p.P322P	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1561	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGCCATCCCCATGCCCCCAA	0.517000														173			90		0	0	0.003610	0	0
ARAP2	116984	broad.mit.edu	37	4	36230295	36230295	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:36230295T>C	uc003gsq.2	-	1	1152	c.814A>G	c.(814-816)Agc>Ggc	p.S272G	ARAP2_uc003gsr.1_Missense_Mutation_p.S272G	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	272					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.R271C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACCAACTTGCTACGACTTCTC	0.428000														120			5		0	0	0.000602	0	0
COL14A1	7373	broad.mit.edu	37	8	121293266	121293266	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:121293266C>T	uc003yox.3	+	30	4057	c.3792C>T	c.(3790-3792)ctC>ctT	p.L1264L	COL14A1_uc003yoz.3_Silent_p.L229L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1264	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)			GTTACCAACTCCATAAAGATG	0.378000														20			10		0	0	0.001368	0	0
ZNF98	148198	broad.mit.edu	37	19	22574359	22574359	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:22574359T>A	uc002nqt.2	-	3	1800	c.1678A>T	c.(1678-1680)Aag>Tag	p.K560*		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K560N(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGGAAATCTTTGCAATGTTG	0.328000														6			7		0	0	0.004482	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762608	130762608	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:130762608G>A	uc003qcb.3	+	1	3419	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	TMEM200A_uc003qca.3_Silent_p.R347R|TMEM200A_uc010kfh.3_Silent_p.R347R|TMEM200A_uc010kfi.3_Silent_p.R347R|TMEM200A_uc021zfg.1_Silent_p.R347R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	347						integral to membrane		p.P346T(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGCTACCAAGGAATAATTCCA	0.517000														5			13		0	0	0.004990	0	0
PLGLA	285189	broad.mit.edu	37	2	107007411	107007411	+	RNA	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:107007411G>A	uc002tdp.3	+	2		c.260G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		ACAGAGGGACGATGTCCAAAA	0.448000														10			10		0	0	0.008291	0	0
MLL3	58508	broad.mit.edu	37	7	151859582	151859582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:151859582G>A	uc003wla.3	-	42	11299	c.11080C>T	c.(11080-11082)Cca>Tca	p.P3694S	MLL3_uc003wkz.3_Missense_Mutation_p.P2755S|MLL3_uc003wky.3_Missense_Mutation_p.P1203S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3694					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGTTGATTTGGAGTTGCTTGT	0.463000			N		medulloblastoma									532			321		0	0	0.003610	0	0
WASH2P	375260	broad.mit.edu	37	2	114355129	114355129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:114355129G>A	uc002tkh.3	+	3	564	c.506G>A	c.(505-507)cGc>cAc	p.R169H	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript|WASH2P_uc010fkz.1_Non-coding_Transcript|WASH2P_uc002tkf.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		GAGTCCATCCGCCAAGCTGGG	0.657000														190			8		0	0	0.004990	0	0
PYGB	5834	broad.mit.edu	37	20	25277119	25277119	+	Silent	SNP	C	T	T	rs141315124	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:25277119C>T	uc002wup.3	+	19	2602	c.2493C>T	c.(2491-2493)tcC>tcT	p.S831S	ABHD12_uc002wuq.3_Intron	NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	831					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TGGAGCCCTCCGACCTGCAGA	0.612000														355			213		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3008941	3008941	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:3008941C>T	uc022aqr.1	-	39	6399	c.6009G>A	c.(6007-6009)agG>agA	p.R2003R	CSMD1_uc011kwj.2_Silent_p.R1396R|CSMD1_uc003wqe.3_Silent_p.R1160R|CSMD1_uc010lrg.3_Silent_p.R72R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2004	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAATGAGATCCTCCAGGTGC	0.448000														26			17		0	0	0.007413	0	0
ALPK3	57538	broad.mit.edu	37	15	85382953	85382953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:85382953C>T	uc002ble.3	+	4	1216	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	350	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAAGATGCCGCCATCTACCAG	0.632000														489			321		0	0	0.003610	0	0
PUS1	80324	broad.mit.edu	37	12	132425867	132425867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:132425867C>T	uc001ujf.3	+	4	1030	c.575C>T	c.(574-576)tCc>tTc	p.S192F	PUS1_uc001ujg.3_Missense_Mutation_p.S164F|PUS1_uc001ujh.3_Missense_Mutation_p.S164F|PUS1_uc001uji.3_Missense_Mutation_p.S139F	NM_025215	NP_001002020	Q9Y606	TRUA_HUMAN	Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA.	192						mitochondrion	RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GGGTTTAACTCCAAGAACAGA	0.597000														208			141		0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215847603	215847603	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:215847603C>T	uc001hku.1	-	62	14037	c.13650G>A	c.(13648-13650)gtG>gtA	p.V4550V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4550	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTCCCAGTTCACTAAGATCT	0.443000										HNSCC(13;0.011)				74			20		0	0	0.007413	0	0
OR52L1	338751	broad.mit.edu	37	11	6007457	6007457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:6007457G>A	uc001mcd.2	-	0	759	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCATAGGAAACACCAAT	0.517000														254			80		0	0	0.003610	0	0
ALG10B	144245	broad.mit.edu	37	12	38714324	38714324	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:38714324T>A	uc001rln.4	+	2	870	c.731T>A	c.(730-732)tTt>tAt	p.F244Y		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	244					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCCATGTCCTTTAAAAACTTG	0.368000														479			129		0	0	0.003610	0	0
SDK1	221935	broad.mit.edu	37	7	3681621	3681621	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:3681621G>A	uc003smx.3	+	3	736	c.597G>A	c.(595-597)agG>agA	p.R199R		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	199	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGACCAGAGGAAAACAGTTT	0.468000														160			61		0	0	0.003610	0	0
TTC9	23508	broad.mit.edu	37	14	71134364	71134364	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:71134364T>C	uc001xmi.2	+	1	833	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA.	164							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGGGGAGAACTTCAAGGCCCT	0.512000														94			54		0	0	0.003610	0	0
OSMR	9180	broad.mit.edu	37	5	38924674	38924674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:38924674G>A	uc003jln.2	+	13	2423	c.2021G>A	c.(2020-2022)cGa>cAa	p.R674Q	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	674	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGCCACCCACGATTTGAAAAG	0.358000														50			52		0	0	0.003610	0	0
BTBD11	121551	broad.mit.edu	37	12	108045516	108045516	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:108045516G>A	uc001tmk.1	+	15	3578	c.3057G>A	c.(3055-3057)gcG>gcA	p.A1019A	BTBD11_uc001tml.1_Silent_p.A556A|BTBD11_uc001tmm.1_Silent_p.A98A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	1019						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTATCTGTGCGAAAAGCATCA	0.483000														54			62		0	0	0.003610	0	0
LPA	4018	broad.mit.edu	37	6	161020670	161020670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:161020670C>T	uc003qtl.3	-	20	3269	c.3149G>A	c.(3148-3150)gGg>gAg	p.G1050E		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3558	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.G1050W(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCCTGTACCCCGGGGGTTTC	0.433000														10			35		0	0	0.003271	0	0
PLA1A	51365	broad.mit.edu	37	3	119331934	119331934	+	Silent	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:119331934C>T	uc003ecu.3	+	4	699	c.633C>T	c.(631-633)ctC>ctT	p.L211L	PLA1A_uc003ecv.3_Silent_p.L195L|PLA1A_uc011bjc.2_Silent_p.L38L|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	211					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGATGCCCTCTTCGTGGAAG	0.597000														29			19		0	0	0.007413	0	0
PCLO	27445	broad.mit.edu	37	7	82544124	82544124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:82544124C>T	uc003uhx.2	-	6	13467	c.13178G>A	c.(13177-13179)gGa>gAa	p.G4393E	PCLO_uc003uhv.2_Missense_Mutation_p.G4393E|PCLO_uc010lec.3_Missense_Mutation_p.G1358E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4324					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						GTGGCTTGATCCAAACTGATC	0.527000														12			11		0	0	0.001368	0	0
NWD1	284434	broad.mit.edu	37	19	16902221	16902222	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:16902221_16902222GA>AT	uc002neu.4	+	13	3423_3424	c.3001_3002GA>AT	c.(3001-3003)gat>ATt	p.D1001I	NWD1_uc002net.4_Missense_Mutation_p.D866I|NWD1_uc002nev.4_Missense_Mutation_p.D795I|NWD1_uc021uqg.1_Missense_Mutation_p.D866I	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1001							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGATGCCTCTGATCCTTGGATG	0.525000														225			104		0	0	0.004672	0	0
HERC1	8925	broad.mit.edu	37	15	63908060	63908060	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:63908060G>A	uc002amp.3	-	75	14149	c.14001C>T	c.(13999-14001)atC>atT	p.I4667I		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4667	HECT.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCCACCAGGGATTATAGGAA	0.403000														40			20		0	0	0.002780	0	0
RHD	6007	broad.mit.edu	37	1	25655545	25655545	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:25655545G>T	uc009vro.3	+	8	1458	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	C1orf63_uc021ojj.1_Intron|RHD_uc001bjz.3_3'UTR|RHD_uc001bkc.3_3'UTR|RHD_uc009vrm.3_3'UTR|RHD_uc001bka.3_Missense_Mutation_p.R437I|RHD_uc001bkb.3_3'UTR|RHD_uc009vrn.3_3'UTR|RHD_uc009vrp.3_3'UTR			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	0						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		actggagtcagagaaaatgga	0.423000														15			60		3.30712e-30	4.85162e-30	0.003610	1	0
FAM47A	158724	broad.mit.edu	37	X	34149124	34149124	+	Silent	SNP	G	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:34149124G>A	uc004ddg.3	-	0	1324	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	424										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTATAGTAGGAGATTGGACA	0.547000														29			94		0	0	0.003610	0	0
GABRD	2563	broad.mit.edu	37	1	1956774	1956774	+	Splice_Site	DEL	C	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:1956774delC	uc001aip.2	+	3	277	c.182_splice	c.e3-1	p.G61_splice		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	61						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCCTTGCAGGCCCCCCCGTGA	0.647													---	1477	---	---	9	---					
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	-	-	rs141981296	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:4772583_4772585delCCA	uc001alm.1	+	1	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_uc001aln.3_In_Frame_Del_p.T225del	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	225	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T225_A226insT(2)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635													---	230	---	---	10	---					
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:6536011_6536013delCTC	uc001anp.1	-	3	856_858	c.358_360delGAG	c.(358-360)gagdel	p.E120del	PLEKHG5_uc001ann.1_In_Frame_Del_p.E80del|PLEKHG5_uc001ano.1_In_Frame_Del_p.E99del|PLEKHG5_uc001anq.1_In_Frame_Del_p.E120del|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_In_Frame_Del_p.E112del|PLEKHG5_uc001ank.1_In_Frame_Del_p.E43del|PLEKHG5_uc009vmb.1_In_Frame_Del_p.E43del|PLEKHG5_uc001anl.1_In_Frame_Del_p.E43del|PLEKHG5_uc001anm.1_In_Frame_Del_p.E43del	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	886	---	---	10	---					
SLC2A5	6518	broad.mit.edu	37	1	9098944	9098946	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:9098944_9098946delCAG	uc001apo.3	-	8	1331_1333	c.1039_1041delCTG	c.(1039-1041)ctgdel	p.L347del	SLC2A5_uc010nzy.2_In_Frame_Del_p.L288del|SLC2A5_uc010nzz.2_In_Frame_Del_p.L232del|SLC2A5_uc010oaa.2_In_Frame_Del_p.L303del	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	347					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGAAGCCCAGCAGCAGCAGC	0.675													---	404	---	---	7	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16255142_16255143delGA	uc001axk.1	+	10	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs	SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	803	Arg-rich.				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)		GGAGAGAGTGGAGAGAGAGAGA	0.431													---	517	---	---	7	---					
MST1P2	11209	broad.mit.edu	37	1	16975913	16975918	+	RNA	DEL	CCTGTT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:16975913_16975918delCCTGTT	uc010och.2	+	10		c.1935_1940delCCTGTT			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTTGGGCACCCTGTTCCAGAACCCA	0.578													---	523	---	---	23	---					
ARID1A	8289	broad.mit.edu	37	1	27105676	27105678	+	In_Frame_Del	DEL	GAA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:27105676_27105678delGAA	uc001bmv.1	+	19	5660_5662	c.5287_5289delGAA	c.(5287-5289)gaadel	p.E1767del	ARID1A_uc001bmu.1_In_Frame_Del_p.E1550del|ARID1A_uc001bmx.1_In_Frame_Del_p.E613del|ARID1A_uc009vsm.1_In_Frame_Del_p.E95del|ARID1A_uc009vsn.1_In_Frame_Del_p.E9del	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1767					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.E1766fs*7(1)|p.E1766fs*4(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGGGTGGGGAAGAAGAAGAAG	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								---	683	---	---	13	---					
LRRC41	10489	broad.mit.edu	37	1	46752129	46752129	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:46752129delA	uc001cpn.3	-	3	444	c.400delT	c.(400-402)tccfs	p.S134fs	LRRC41_uc010omb.2_Frame_Shift_Del_p.S134fs|LRRC41_uc001cpo.1_Frame_Shift_Del_p.S134fs	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	134										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAACATGGGAAAAAAAGGCC	0.483													---	718	---	---	7	---					
TMEM48	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:54298190_54298192delTTA	uc001cvs.3	-	2	542_544	c.251_253delTAA	c.(250-255)ataagt>agt	p.I84del	TMEM48_uc010onu.2_In_Frame_Del_p.I84del|TMEM48_uc001cvt.3_5'UTR|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	84					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TTGAAAATACTTATTATTATTAT	0.305													---	312	---	---	9	---					
JAK1	3716	broad.mit.edu	37	1	65306996	65306997	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:65306996_65306997insT	uc001dbu.1	-	18	2829_2830	c.2580_2581insA	c.(2578-2583)aaaccafs	p.K860fs	JAK1_uc009wam.1_Frame_Shift_Ins_p.K860fs|JAK1_uc009wal.1_Frame_Shift_Ins_p.K37fs	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	860					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCAGTTGCTGGTTTTTTTTCTG	0.470			Mis		ALL								---	472	---	---	8	---					
PSMA5	5686	broad.mit.edu	37	1	109964541	109964542	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:109964541_109964542insC	uc001dxn.3	-	1	154_155	c.36_37insG	c.(34-39)gtgaatfs	p.V12fs	PSMA5_uc010ovj.2_Intron|PSMA5_uc021ord.1_5'UTR|PSMA5_uc021ore.1_5'UTR	NM_002790	NP_001186703	P28066	PSA5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.	12					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		GAAAAAGTATTCACGCCCCtat	0.347													---	1383	---	---	7	---					
AP4B1	10717	broad.mit.edu	37	1	114438939	114438939	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:114438939delA	uc001eeb.3	-	7	1637	c.1451delT	c.(1450-1452)ttcfs	p.F484fs	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Frame_Shift_Del_p.F316fs|AP4B1_uc010owp.2_Frame_Shift_Del_p.F385fs|AP4B1_uc001eed.3_Frame_Shift_Del_p.F484fs|AP4B1_uc001eea.1_Frame_Shift_Del_p.F278fs|AP4B1_uc001eee.1_Frame_Shift_Del_p.F11fs	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	484					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGGAGAGGAAAAGGCGCAG	0.458													---	642	---	---	7	---					
NBPF10	100132406	broad.mit.edu	37	1	144615246	144615247	+	Splice_Site	INS	-	AG	AG	rs10625215		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:144615246_144615247insAG	uc009wig.1	+	2	308	c.114_splice	c.e2+2	p.L38_splice	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	38										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTAAACCTCAAAGAGATGTTTT	0.470													---	239	---	---	24	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	-	-	rs149280379		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:150530506delG	uc009wlw.3	+	13	2490	c.2332delG	c.(2332-2334)gggfs	p.G778fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Del_p.G716fs|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	755	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													---	1780	---	---	11	---					
TCHH	7062	broad.mit.edu	37	1	152083468	152083469	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:152083468_152083469insG	uc009wne.1	-	2	2496_2497	c.2224_2225insC	c.(2224-2226)cggfs	p.R742fs	TCHH_uc001ezp.2_Frame_Shift_Ins_p.R742fs	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	742					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTCTCCCGGCGCCGCCTC	0.653													---	2702	---	---	7	---					
GPATCH4	54865	broad.mit.edu	37	1	156565385	156565385	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:156565385delT	uc001fpm.3	-	7	796	c.748delA	c.(748-750)aggfs	p.R250fs	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Frame_Shift_Del_p.R245fs	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	245						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGATGTCGCCTTTTCTTCTTC	0.458													---	2781	---	---	7	---					
COPA	1314	broad.mit.edu	37	1	160295426	160295427	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:160295426_160295427insT	uc001fvv.4	-	6	906_907	c.512_513insA	c.(511-513)aacfs	p.N171fs	COPA_uc009wti.3_Frame_Shift_Ins_p.N171fs|COPA_uc009wtj.1_Frame_Shift_Ins_p.N117fs	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	171					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGGACAGGTTTTTTTTCCT	0.406													---	689	---	---	7	---					
MAPKAPK2	9261	broad.mit.edu	37	1	206858676	206858678	+	In_Frame_Del	DEL	GCC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr1:206858676_206858678delGCC	uc001hem.2	+	0	312_314	c.102_104delGCC	c.(100-105)cagccg>cag	p.P40del	MAPKAPK2_uc001hel.2_In_Frame_Del_p.P40del	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	40	Poly-Pro.|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ccccggcgcagccgccgccgccg	0.729													---	177	---	---	8	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:10917819_10917820delAG	uc002ras.3	+	10	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													---	994	---	---	11	---					
PPP1R21	129285	broad.mit.edu	37	2	48692631	48692631	+	Splice_Site	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:48692631delG	uc002rwm.3	+	9	933	c.748_splice	c.e9-1	p.L250_splice	PPP1R21_uc002rwi.1_Splice_Site_p.L250_splice|PPP1R21_uc002rwj.3_Splice_Site_p.L250_splice|PPP1R21_uc002rwl.3_Splice_Site_p.L204_splice|PPP1R21_uc002rwk.3_Splice_Site_p.L250_splice|PPP1R21_uc010yok.2_Splice_Site_p.L250_splice	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	250										endometrium(2)|kidney(4)|lung(9)	15						TCATTTTAAAGCTGAAGATGC	0.368													---	76	---	---	28	---					
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:71801420_71801422delCCG	uc010fen.3	+	29	3462_3464	c.3321_3323delCCG	c.(3319-3324)ttccgc>ttc	p.R1111del	DYSF_uc010fei.3_In_Frame_Del_p.R1110del|DYSF_uc010feh.3_In_Frame_Del_p.R1079del|DYSF_uc002sig.4_In_Frame_Del_p.R1079del|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_In_Frame_Del_p.R1124del|DYSF_uc010fee.3_In_Frame_Del_p.R1093del|DYSF_uc010fef.3_In_Frame_Del_p.R1110del|DYSF_uc002sie.3_In_Frame_Del_p.R1093del|DYSF_uc010feo.3_In_Frame_Del_p.R1125del|DYSF_uc010fej.3_In_Frame_Del_p.R1080del|DYSF_uc010fel.3_In_Frame_Del_p.R1080del|DYSF_uc010fem.3_In_Frame_Del_p.R1094del|DYSF_uc002sif.3_In_Frame_Del_p.R1094del|DYSF_uc010fek.3_In_Frame_Del_p.R1111del|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1093						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655													---	1473	---	---	12	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:74687542_74687543insC	uc002slj.2	+	3	747_748	c.544_545insC	c.(544-546)gccfs	p.A182fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													---	1310	---	---	8	---					
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	G	G	rs149873671		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:95539829_95539830insG	uc002stw.1	+	2	782_783	c.689_690insG	c.(688-690)ccgfs	p.P230fs	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	230					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663													---	904	---	---	10	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:96992793_96992795delGAG	uc002svy.3	+	0	859_861	c.448_450delGAG	c.(448-450)gagdel	p.E155del	ITPRIPL1_uc002svx.3_In_Frame_Del_p.E147del|ITPRIPL1_uc010yuk.2_In_Frame_Del_p.E139del|ITPRIPL1_uc010yul.2_In_Frame_Del_p.E139del	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													---	875	---	---	18	---					
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:100218011_100218013delGCT	uc002taf.3	-	12	1474_1476	c.1330_1332delAGC	c.(1330-1332)agcdel	p.S444del	AFF3_uc002tag.3_In_Frame_Del_p.S419del|AFF3_uc010fiq.1_In_Frame_Del_p.S419del|AFF3_uc010yvr.1_In_Frame_Del_p.S572del|AFF3_uc002tah.1_In_Frame_Del_p.S444del	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													---	219	---	---	8	---					
AQP12A	375318	broad.mit.edu	37	2	241631786	241631786	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr2:241631786delG	uc002vzu.3	+	1	488	c.419delG	c.(418-420)agcfs	p.S140fs	AQP12A_uc002vzv.3_Non-coding_Transcript	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	140						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGAGCTGCAGCTCGGCCCTG	0.692													---	124	---	---	9	---					
MST1	4485	broad.mit.edu	37	3	49723112	49723112	+	Frame_Shift_Del	DEL	T	-	-	rs11288337		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:49723112delT	uc003cxg.3	-	10	1376	c.1304delA	c.(1303-1305)aacfs	p.N435fs	MST1_uc011bcs.1_Frame_Shift_Del_p.T474fs	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	421	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587													---	616	---	---	15	---					
RBM15B	29890	broad.mit.edu	37	3	51430738	51430738	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:51430738delC	uc003dbd.3	+	0	2040	c.1908delC	c.(1906-1908)cgcfs	p.R636fs		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	636					RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCGCAGCCGCAAGGAGAACC	0.632													---	111	---	---	80	---					
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:53220653delG	uc003dgl.3	+	13	1647	c.1294delG	c.(1294-1296)gggfs	p.G432fs	PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	432	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602													---	2591	---	---	14	---					
UROC1	131669	broad.mit.edu	37	3	126220106	126220106	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:126220106delT	uc010hsi.2	-	10	1154	c.1100delA	c.(1099-1101)aagfs	p.K367fs	UROC1_uc003eiz.2_Frame_Shift_Del_p.K307fs	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	307					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGCACCTCCTTTTTTTTCCT	0.587													---	1434	---	---	9	---					
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	A	A	rs150160917	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:129268107_129268108insA	uc003emu.3	+	2	647_648	c.642_643insA	c.(640-645)gctaggfs	p.A214fs	H1FOO_uc003emv.3_Frame_Shift_Ins_p.A75fs	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	Homo sapiens H1 histone family, member O, oocyte-specific (H1FOO), mRNA.	214					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653													---	266	---	---	7	---					
AGTR1	185	broad.mit.edu	37	3	148459229	148459229	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:148459229delC	uc003ewg.3	+	3	853	c.407delC	c.(406-408)tccfs	p.S136fs	AGTR1_uc003ewh.3_Frame_Shift_Del_p.S136fs|AGTR1_uc003ewi.3_Frame_Shift_Del_p.S136fs|AGTR1_uc003ewj.3_Frame_Shift_Del_p.S136fs|AGTR1_uc003ewk.3_Frame_Shift_Del_p.S136fs|AGTR1_uc021xfj.1_Frame_Shift_Del_p.S136fs	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	136					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCAATGAAGTCCCGCCTTCGA	0.488													---	193	---	---	81	---					
SHOX2	6474	broad.mit.edu	37	3	157815841	157815841	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:157815841delT	uc003fbs.3	-	5	1182	c.1043delA	c.(1042-1044)aagfs	p.K348fs	SHOX2_uc003fbr.3_Frame_Shift_Del_p.K324fs|SHOX2_uc010hvw.3_Frame_Shift_Del_p.K312fs	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	324					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGGCGTGCTTTTTGGCTTT	0.677													---	3662	---	---	8	---					
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159482272	159482274	+	In_Frame_Del	DEL	GCA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr3:159482272_159482274delGCA	uc003fcq.2	+	4	513_515	c.332_334delGCA	c.(331-336)ggcagc>ggc	p.S117del	IQCJ-SCHIP1_uc003fcr.2_In_Frame_Del_p.S90del|IQCJ-SCHIP1_uc003fcs.2_In_Frame_Del_p.S41del|IQCJ-SCHIP1_uc003fct.2_In_Frame_Del_p.S41del|IQCJ-SCHIP1_uc021xgm.1_Intron|IQCJ-SCHIP1_uc010hvz.1_In_Frame_Del_p.S14del	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	41						cytoplasm	identical protein binding|protein binding	p.S117delS(2)|p.S41delS(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGTGACGCCGgcagcagcagcag	0.635													---	184	---	---	7	---					
KLB	152831	broad.mit.edu	37	4	39448946	39448946	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:39448946delG	uc003gua.3	+	3	2697	c.2600delG	c.(2599-2601)tggfs	p.W867fs	KLB_uc011byj.2_Frame_Shift_Del_p.W858fs	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	867	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTGATTCCCTGGGGGGTGCGC	0.647													---	1394	---	---	7	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:71554620_71554622delGAG	uc003hfo.3	+	0	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													---	279	---	---	9	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:76539579_76539580insT	uc011cbp.2	-	2	747_748	c.222_223insA	c.(220-225)aaacgafs	p.K74fs	CDKL2_uc003hiq.3_Frame_Shift_Ins_p.K74fs|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	74	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													---	540	---	---	10	---					
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:89618484_89618486delTCC	uc003hrx.3	-	0	538_540	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	140	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606													---	638	---	---	12	---					
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:140810639_140810641delGCT	uc021xsg.1	-	1	2701_2703	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	646	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586													---	232	---	---	9	---					
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr4:159091487_159091489delGCT	uc003ipq.4	-	2	1328_1330	c.921_923delAGC	c.(919-924)gcagcg>gcg	p.307_308AA>A	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Intron|FAM198B_uc003ipr.4_Intron|FAM198B_uc003ips.3_3'UTR|AK126266_uc003ipt.1_5'Flank	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	307						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458													---	397	---	---	7	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:6755013_6755014delAC	uc003jdx.1	+	12	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.K528fs	PAPD7_uc011cmn.2_Frame_Shift_Del_p.K527fs|PAPD7_uc010itl.1_Frame_Shift_Del_p.K348fs	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	528					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													---	359	---	---	7	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	GCC	GCC	rs35336557		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr5:112824048_112824049insGCC	uc003kql.4	-	0	479_480	c.63_64insGGC	c.(61-66)insGGC	p.21_22insG		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	549					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.S22*(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													---	77	---	---	13	---					
ATXN1	6310	broad.mit.edu	37	6	16327900	16327901	+	In_Frame_Ins	INS	-	TGC	TGC	rs66949327		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:16327900_16327901insTGC	uc003nbt.3	-	7	1612_1613	c.641_642insGCA	c.(640-642)cag>caGCAg	p.214_214Q>QQ	ATXN1_uc010jpi.3_In_Frame_Ins_p.214_214Q>QQ|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	214	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgatg	0.668													---	201	---	---	13	---					
RBM24	221662	broad.mit.edu	37	6	17292126	17292128	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:17292126_17292128delGCT	uc003nbz.4	+	3	491_493	c.487_489delGCT	c.(487-489)gctdel	p.A172del	RBM24_uc003nby.4_3'UTR|RBM24_uc011dix.2_In_Frame_Del_p.A114del|RBM24_uc003nca.3_In_Frame_Del_p.A127del|RBM24_uc011diy.2_In_Frame_Del_p.L80del|RBM24_uc011diz.2_In_Frame_Del_p.L65del	NM_001143942	NP_001137413	Q9BX46	RBM24_HUMAN	Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA.	172	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ATACTCAGCAgctgctgctgctg	0.606													---	756	---	---	9	---					
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:18264079_18264081delTCC	uc003ncr.1	-	1	331_333	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_uc011djf.1_In_Frame_Del_p.46_47EE>E|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	46	Asp/Glu-rich (highly acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML								---	630	---	---	8	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:30653494_30653496delTGC	uc003nra.3	-	1	531_533	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_uc003nrb.4_In_Frame_Del_p.100_101QQ>Q	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	100	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													---	336	---	---	15	---					
DDR1	780	broad.mit.edu	37	6	30865226	30865227	+	Frame_Shift_Del	DEL	GT	-	-	rs149035593		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:30865226_30865227delGT	uc003nrv.3	+	13	2128_2129	c.2086_2087delGT	c.(2086-2088)gtgfs	p.V696fs	DDR1_uc010jse.3_Frame_Shift_Del_p.V653fs|DDR1_uc003nrq.3_Frame_Shift_Del_p.V653fs|DDR1_uc003nrr.3_Frame_Shift_Del_p.V690fs|DDR1_uc003nrs.3_Frame_Shift_Del_p.V690fs|DDR1_uc003nrt.3_Frame_Shift_Del_p.V653fs|DDR1_uc011dms.2_Frame_Shift_Del_p.V671fs|DDR1_uc003nru.3_Frame_Shift_Del_p.V653fs|DDR1_uc003nry.2_3'UTR|DDR1_uc003nrx.2_Frame_Shift_Del_p.V544fs|DDR1_uc003nrw.1_Frame_Shift_Del_p.V425fs	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	690	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A695V(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GCTGCTGGGCGTGTGTGTGCAG	0.540													---	819	---	---	7	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:41621169_41621171delCTG	uc003oqq.4	+	4	804_806	c.597_599delCTG	c.(595-600)ctctgc>ctc	p.C204del	MDFI_uc010jxn.3_In_Frame_Del_p.C204del	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	204	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													---	1062	---	---	8	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:42196333delT	uc003ose.2	-	17	3976	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													---	2522	---	---	10	---					
RUNX2	860	broad.mit.edu	37	6	45390446	45390448	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:45390446_45390448delCAG	uc011dvx.2	+	2	385_387	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RUNX2_uc011dvy.2_In_Frame_Del_p.Q71del|RUNX2_uc003oxt.3_In_Frame_Del_p.Q57del	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729													---	767	---	---	7	---					
GSTA1	2938	broad.mit.edu	37	6	52664097	52664100	+	Splice_Site	DEL	TGAA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:52664097_52664100delTGAA	uc003paz.3	-	2	83	c.-29_splice	c.e2-1		GSTA1_uc021zan.1_Splice_Site	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TCTCTAAGCCtgaatgaatgaatg	0.431													---	153	---	---	8	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:76599857_76599858insA	uc003pih.1	+	25	3021_3022	c.2742_2743insA	c.(2740-2745)cagaaafs	p.Q914fs	MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	914					DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													---	151	---	---	7	---					
IFNGR1	3459	broad.mit.edu	37	6	137519400	137519426	+	In_Frame_Del	DEL	TCAAAACCATTTCTGGAGTGATCACTC	-	-	rs146842669	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:137519400_137519426delTCAAAACCATTTCTGGAGTGATCACTC	uc003qho.2	-	6	1315_1341	c.1212_1238delGAGTGATCACTCCAGAAATGGTTTTGA	c.(1210-1239)gagagtgatcactccagaaatggttttgat>gat	p.ESDHSRNGF404del	IFNGR1_uc011edm.1_In_Frame_Del_p.ESDHSRNGF376del	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	404					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	p.H407H(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GGAATCAGTATCAAAACCATTTCTGGAGTGATCACTCTCAGAACAAT	0.401													---	19	---	---	32	---					
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:137815210_137815212delTGG	uc003qhp.1	-	0	320_322	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596													---	681	---	---	11	---					
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:161560589delG	uc003qtr.1	-	7	1134	c.907delC	c.(907-909)cggfs	p.R303fs	AGPAT4_uc003qts.1_Frame_Shift_Del_p.R163fs|AGPAT4_uc011egb.1_Frame_Shift_Del_p.R141fs	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	303					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.R303fs*7(4)|p.R303fs*60(2)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627													---	757	---	---	8	---					
TBP	6908	broad.mit.edu	37	6	170871047	170871049	+	In_Frame_Del	DEL	CAG	-	-	rs10592951		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr6:170871047_170871049delCAG	uc003qxu.3	+	2	502_504	c.223_225delCAG	c.(223-225)cagdel	p.Q95del	TBP_uc011ehf.2_In_Frame_Del_p.Q75del|TBP_uc003qxt.3_In_Frame_Del_p.Q95del|TBP_uc011ehg.1_In_Frame_Del_p.Q95del	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcaacagcaacagcagcagcagc	0.571													---	180	---	---	10	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:2963941_2963943delGGA	uc003smv.3	-	14	2198_2200	c.1864_1866delTCC	c.(1864-1866)tccdel	p.S622del		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	622					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								---	680	---	---	9	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	T	T	rs34551853		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:6621848_6621849insT	uc003sqi.3	+	5	694_695	c.336_337insT	c.(334-339)ctgtttfs	p.L112fs	ZDHHC4_uc003sql.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.3_Frame_Shift_Ins_p.L112fs	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	112						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450													---	1909	---	---	19	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	644	---	---	12	---					
NEUROD6	63974	broad.mit.edu	37	7	31378634	31378635	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:31378634_31378635insT	uc003tch.3	-	1	601_602	c.248_249insA	c.(247-249)aagfs	p.K83fs	NEUROD6_uc022abi.1_Frame_Shift_Ins_p.K83fs	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	83					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTTGTTGTCTTTTTTTTCCT	0.520													---	1745	---	---	10	---					
C7orf25	79020	broad.mit.edu	37	7	42949523	42949524	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:42949523_42949524delCT	uc003thx.4	-	1	1635_1636	c.1150_1151delAG	c.(1150-1152)aggfs	p.R384fs	C7orf25_uc010kxq.3_Frame_Shift_Del_p.R326fs|C7orf25_uc010kxr.3_Frame_Shift_Del_p.R384fs|C7orf25_uc022ace.1_Frame_Shift_Del_p.R326fs	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	326								p.R326fs*6(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACAGTGGCCCTCTCTCTCTCC	0.455													---	1014	---	---	11	---					
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:73123425_73123427delCAT	uc003tyx.3	-	1	112_114	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	STX1A_uc003tyy.3_In_Frame_Del_p.D19del|STX1A_uc010lbj.2_In_Frame_Del_p.D19del|MIR4284_uc022afw.1_5'Flank	NM_004603	NP_004594	Q16623	STX1A_HUMAN	Homo sapiens syntaxin 1A (brain) (STX1A), transcript variant 1, mRNA.	19					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586													---	1468	---	---	14	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	-	-	rs147779783	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:76112249delA	uc011kgk.1	+	2	772	c.420delA	c.(418-420)ccafs	p.P140fs	DTX2_uc003uff.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.P231fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	231	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													---	2578	---	---	12	---					
POMZP3	22932	broad.mit.edu	37	7	76254896	76254898	+	In_Frame_Del	DEL	TTC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:76254896_76254898delTTC	uc003uft.3	-	2	915_917	c.168_170delGAA	c.(166-171)aagaaa>aaa	p.56_57KK>K	LOC100133091_uc003ufs.2_Intron|POMZP3_uc003ufu.3_In_Frame_Del_p.56_57KK>K|POMZP3_uc011kgm.2_Non-coding_Transcript	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN	Homo sapiens POM121 and ZP3 fusion (POMZP3), transcript variant 1, mRNA.	56	Poly-Lys.									kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CACTGTCCTTTTCTTCTTCTTCT	0.468													---	1891	---	---	14	---					
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610355	76610356	+	RNA	INS	-	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:76610355_76610356insC	uc011kgn.1	+	0		c.217_218insC			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		GCCCCCCAGCACCCCCCCCACA	0.644													---	465	---	---	9	---					
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:100281686_100281688delGCT	uc003uwg.1	-	14	2832_2834	c.1823_1825delAGC	c.(1822-1827)cagctc>ctc	p.Q608del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	608	Gln-rich.|Poly-Gln.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.690													---	485	---	---	9	---					
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:123332873_123332875delGGA	uc003vkz.3	-	8	1201_1203	c.873_875delTCC	c.(871-876)cctccc>ccc	p.291_292PP>P		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	291	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567													---	541	---	---	8	---					
TRBV7-3	28595	broad.mit.edu	37	7	142247370	142247370	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:142247370delT	uc003vyd.4	-	1	111	c.86delA	c.(85-87)aacfs	p.N29fs	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGTGACCTTGTTACTGGGGGT	0.507													---	62	---	---	29	---					
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr7:156743209_156743211delGAG	uc003wmy.3	+	0	793_795	c.778_780delGAG	c.(778-780)gagdel	p.E264del		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding	p.E264*(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552													---	511	---	---	10	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:22020159_22020161delGTG	uc003xaw.4	+	4	965_967	c.262_264delGTG	c.(262-264)gtgdel	p.V93del	SFTPC_uc003xax.4_In_Frame_Del_p.V44del|SFTPC_uc003xay.4_In_Frame_Del_p.V44del|SFTPC_uc003xaz.3_In_Frame_Del_p.V44del|SFTPC_uc011kza.1_In_Frame_Del_p.V44del|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													---	1331	---	---	8	---					
ATAD2	29028	broad.mit.edu	37	8	124384901	124384902	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr8:124384901_124384902insA	uc003yqh.4	-	2	453_454	c.345_346insT	c.(343-348)gataaafs	p.D115fs	ATAD2_uc011lii.2_5'UTR|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Ins_p.D115fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTTTTTTTTATCAGCCTGCT	0.282													---	133	---	---	52	---					
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	-	-	rs113070757	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:2039777_2039779delCAG	uc003zhc.3	+	3	766_768	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_uc003zhd.3_In_Frame_Del_p.Q238del|SMARCA2_uc010mha.3_In_Frame_Del_p.Q229del	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635													---	223	---	---	8	---					
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:35906348_35906350delCTG	uc003zyr.1	+	0	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670													---	295	---	---	16	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	-	-	rs11279082		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:100616701_100616706delGCCGCC	uc004axu.3	+	0	1165_1170	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473	NP_004464	O00358	FOXE1_HUMAN	Homo sapiens forkhead box E1 (thyroid transcription factor 2) (FOXE1), mRNA.	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													---	49	---	---	9	---					
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:102590616_102590618delCAC	uc022bky.1	+	3	1093_1095	c.325_327delCAC	c.(325-327)cacdel	p.H119del	NR4A3_uc004bae.3_In_Frame_Del_p.H108del|NR4A3_uc004baf.1_In_Frame_Del_p.H108del	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								---	238	---	---	12	---					
AGPAT2	10555	broad.mit.edu	37	9	139581759	139581761	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:139581759_139581761delCAG	uc004cii.1	-	0	151_153	c.49_51delCTG	c.(49-51)ctgdel	p.L17del	AGPAT2_uc004cij.1_In_Frame_Del_p.L17del	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	17					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		Tcagctgcaccagcagcagcagc	0.744													---	822	---	---	8	---					
MAMDC4	158056	broad.mit.edu	37	9	139749473	139749474	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:139749473_139749474insC	uc004cjs.3	+	9	1158_1159	c.1108_1109insC	c.(1108-1110)gccfs	p.A370fs	MAMDC4_uc011mej.2_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	370	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		cgccccccgggcccccgTCCTG	0.678													---	157	---	---	7	---					
GRIN1	2902	broad.mit.edu	37	9	140056884	140056886	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr9:140056884_140056886delGAG	uc004clk.3	+	12	2110_2112	c.1780_1782delGAG	c.(1780-1782)gagdel	p.E598del	GRIN1_uc004cli.1_In_Frame_Del_p.E273del|GRIN1_uc004clj.1_In_Frame_Del_p.E595del|GRIN1_uc004cln.3_In_Frame_Del_p.E619del|GRIN1_uc004clo.3_In_Frame_Del_p.E619del|GRIN1_uc004clm.3_In_Frame_Del_p.E598del|GRIN1_uc004cll.3_In_Frame_Del_p.E598del	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	598					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTGAACAGCGAGGAGGAGGAGG	0.739													---	275	---	---	8	---					
PHYH	5264	broad.mit.edu	37	10	13330486	13330488	+	In_Frame_Del	DEL	CCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:13330486_13330488delCCT	uc001imf.3	-	5	638_640	c.550_552delAGG	c.(550-552)aggdel	p.R184del	PHYH_uc001ime.3_In_Frame_Del_p.R84del	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	184					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GATCGCTGGGCCTGAAGGGGAAA	0.581													---	386	---	---	117	---					
FRMD4A	55691	broad.mit.edu	37	10	13699134	13699142	+	In_Frame_Del	DEL	CGCCCCCCG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:13699134_13699142delCGCCCCCCG	uc001ims.3	-	21	2799_2807	c.2447_2455delCGGGGGGCG	c.(2446-2457)gcggggggcggt>ggt	p.AGG816del	FRMD4A_uc009xjf.1_In_Frame_Del_p.AGG816del	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	816						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGTACACAccgccccccgcgccccccgc	0.761													---	63	---	---	16	---					
NCOA4	8031	broad.mit.edu	37	10	51580659	51580659	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:51580659delA	uc001jis.4	+	2	448	c.245delA	c.(244-246)gagfs	p.E82fs	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Frame_Shift_Del_p.E98fs|NCOA4_uc010qhd.2_Frame_Shift_Del_p.E98fs|NCOA4_uc010qhe.2_Frame_Shift_Del_p.R12fs|NCOA4_uc010qhf.2_Intron|NCOA4_uc001jit.3_Frame_Shift_Del_p.E82fs|NCOA4_uc009xoo.3_Frame_Shift_Del_p.E82fs	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	82					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAGCTTAAAGAGGAGACACTT	0.473			T	RET	papillary thyroid								---	405	---	---	152	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	-	-	rs12246234		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:55587198_55587200delGGC	uc010qhy.1	-	32	4730_4732	c.4335_4337delGCC	c.(4333-4338)ccgcct>cct	p.1445_1446PP>P	PCDH15_uc010qhq.2_In_Frame_Del_p.1445_1446PP>P|PCDH15_uc010qhr.2_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqv.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqw.1_In_Frame_Del_p.1452_1453PP>P|PCDH15_uc010qht.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_uc021pqx.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqz.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_uc010qhv.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_uc010qhw.1_In_Frame_Del_p.1400_1401PP>P|PCDH15_uc010qhx.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_uc010qhz.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qia.1_In_Frame_Del_p.1418_1419PP>P|PCDH15_uc001jju.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qib.1_In_Frame_Del_p.1415_1416PP>P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1440					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1445A(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			---	510	---	---	10	---					
KIAA0913	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:75560463_75560464insC	uc001jvj.3	+	23	5308_5309	c.5053_5054insC	c.(5053-5055)tccfs	p.S1685fs	KIAA0913_uc001jve.3_Frame_Shift_Ins_p.S1698fs|KIAA0913_uc009xrl.3_Frame_Shift_Ins_p.S1693fs|KIAA0913_uc001jvf.3_Frame_Shift_Ins_p.S1511fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Ins_p.S1120fs|KIAA0913_uc010qkr.2_Frame_Shift_Ins_p.S1108fs|KIAA0913_uc009xrn.2_Frame_Shift_Ins_p.S104fs	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1693							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTCTCCCGCTCCCCCCCCTAC	0.604													---	832	---	---	7	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:81070787_81070789delCTC	uc001kaf.2	+	23	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_uc001kag.2_In_Frame_Del_p.P862del|ZMIZ1_uc010qlq.1_Intron	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	986	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													---	1199	---	---	8	---					
PDZD7	79955	broad.mit.edu	37	10	102789811	102789811	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr10:102789811delG	uc001ksn.3	-	1	416	c.166delC	c.(166-168)cgcfs	p.R56fs	PDZD7_uc021pxc.1_Frame_Shift_Del_p.R56fs|PDZD7_uc001kso.2_Frame_Shift_Del_p.R56fs|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	56						cilium|nucleus	protein binding	p.R56C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGATTCCGCGGGGGGGCCCG	0.667													---	1302	---	---	11	---					
KBTBD4	55709	broad.mit.edu	37	11	47599139	47599139	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:47599139delA	uc001nfx.3	-	1	584	c.413delT	c.(412-414)ttgfs	p.L138fs	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Frame_Shift_Del_p.L163fs|KBTBD4_uc001nfz.3_Frame_Shift_Del_p.L154fs|KBTBD4_uc001nfy.3_Frame_Shift_Del_p.L138fs|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	138										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517													---	1529	---	---	8	---					
PATL1	219988	broad.mit.edu	37	11	59423460	59423460	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:59423460delA	uc001noe.4	-	6	925	c.782delT	c.(781-783)ctcfs	p.L261fs	PATL1_uc009yms.1_Intron|PATL1_uc010rkw.2_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	261	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TGCTCTCTGGAGGGGGCTGAG	0.423													---	76	---	---	27	---					
AHNAK	79026	broad.mit.edu	37	11	62288902	62288902	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:62288902delG	uc001ntl.3	-	4	13287	c.12987delC	c.(12985-12987)ttcfs	p.F4329fs	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4329					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTCTCCTTTGAATCCTGGCA	0.507													---	291	---	---	226	---					
SF1	7536	broad.mit.edu	37	11	64534435	64534437	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:64534435_64534437delGCT	uc001obb.2	-	11	1969_1971	c.1517_1519delAGC	c.(1516-1521)cagcct>cct	p.Q506del	SF1_uc010rnm.2_In_Frame_Del_p.Q198del|SF1_uc010rnn.2_In_Frame_Del_p.Q480del|SF1_uc001oaz.2_In_Frame_Del_p.Q631del|SF1_uc001oba.2_In_Frame_Del_p.Q506del|SF1_uc001obd.2_In_Frame_Del_p.507_508AA>A|SF1_uc001obc.2_In_Frame_Del_p.Q506del|SF1_uc001obe.2_In_Frame_Del_p.392_393AA>A|SF1_uc010rno.2_In_Frame_Del_p.Q391del|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	506	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGTGGCGGAGGCTGCTGCTGCTG	0.660													---	1337	---	---	7	---					
P2RY2	5029	broad.mit.edu	37	11	72946202	72946203	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr11:72946202_72946203insC	uc021qna.1	+	0	998_999	c.998_999insC	c.(997-999)cgcfs	p.R333fs	P2RY2_uc001otk.3_Frame_Shift_Ins_p.R333fs|P2RY2_uc001otj.3_Frame_Shift_Ins_p.R333fs|P2RY2_uc001otl.3_Frame_Shift_Ins_p.R333fs	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	333					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACCCCGGCTCGCCGCAGGCTGG	0.649													---	542	---	---	7	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													---	159	---	---	12	---					
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:53001991delT	uc001sas.3	-	8	1647	c.1612delA	c.(1612-1614)accfs	p.T538fs		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	538	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532													---	1296	---	---	8	---					
SMARCC2	6601	broad.mit.edu	37	12	56559126	56559127	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:56559126_56559127insG	uc001skb.3	-	25	3220_3221	c.3114_3115insC	c.(3112-3117)ccagggfs	p.P1038fs	SMARCC2_uc001skd.3_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001ska.3_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001skc.3_Frame_Shift_Ins_p.P1068fs|SMARCC2_uc010sqf.2_Frame_Shift_Ins_p.P958fs	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1038	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGGAACCCCTGGTGGGACTG	0.584													---	840	---	---	10	---					
TSFM	10102	broad.mit.edu	37	12	58177067	58177068	+	Splice_Site	DEL	GT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:58177067_58177068delGT	uc001sqi.3	+	2	288	c.231_splice	c.e2+1	p.Q77_splice	TSFM_uc021qzq.1_Splice_Site_p.Q77_splice|TSFM_uc001sqh.3_Splice_Site_p.Q77_splice|TSFM_uc010ssf.2_Splice_Site_p.Q77_splice|TSFM_uc010sse.2_Splice_Site	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	77					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CCTCAAACAGGTGTGTGTGTGG	0.559													---	1172	---	---	8	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:72057256_72057258delGCT	uc001swo.2	-	0	492_494	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_uc010sts.2_In_Frame_Del_p.S45del|ZFC3H1_uc001swp.3_In_Frame_Del_p.S45del|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	932	---	---	9	---					
C12orf51	283450	broad.mit.edu	37	12	112600860	112600860	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:112600860delG	uc021reb.1	-	74	13100	c.12704delC	c.(12703-12705)ccafs	p.P4235fs		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGTGCCATCTGGGGGGGCGAT	0.627													---	1224	---	---	9	---					
VPS37B	79720	broad.mit.edu	37	12	123351892	123351892	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr12:123351892delG	uc001udl.3	-	3	732	c.629delC	c.(628-630)ccafs	p.P210fs		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	210	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.P211fs*>76(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGGGGGTGGTGGGGGGGGGAT	0.716													---	229	---	---	10	---					
WBP4	11193	broad.mit.edu	37	13	41654830	41654830	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:41654830delG	uc001uxt.3	+	8	918	c.805delG	c.(805-807)gaafs	p.E269fs	WBP4_uc010tfd.2_Frame_Shift_Del_p.E248fs	NM_007187	NP_009118	O75554	WBP4_HUMAN	Homo sapiens WW domain binding protein 4 (formin binding protein 21) (WBP4), mRNA.	269					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		AACACAGAAAGAAAAAAGTAT	0.308													---	249	---	---	7	---					
FAM155A	728215	broad.mit.edu	37	13	108518337	108518338	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr13:108518337_108518338insC	uc001vql.3	-	0	1123_1124	c.607_608insG	c.(607-609)gacfs	p.D203fs		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	203						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609													---	1199	---	---	12	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:23341527_23341529delCCT	uc001whd.3	+	0	568_570	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_uc001whe.3_5'Flank	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	11					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													---	915	---	---	10	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:23528502_23528503delTC	uc001wit.4	-	18	4208_4209	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	CDH24_uc001wil.3_5'Flank|CDH24_uc010akf.3_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Frame_Shift_Del_p.E536fs|ACIN1_uc001wiq.4_Frame_Shift_Del_p.E536fs|ACIN1_uc001wir.4_Frame_Shift_Del_p.E567fs|ACIN1_uc001wis.4_Frame_Shift_Del_p.E975fs|ACIN1_uc010akg.3_Frame_Shift_Del_p.E1281fs|ACIN1_uc010tnj.2_Frame_Shift_Del_p.E1254fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	341	---	---	10	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:77493648_77493650delGCG	uc001xsy.3	-	0	1385_1387	c.486_488delCGC	c.(484-489)gccgct>gct	p.162_163AA>A		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein-like (IRF2BPL), mRNA.	162	Poly-Ala.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749													---	251	---	---	7	---					
CHGA	1113	broad.mit.edu	37	14	93397759	93397761	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:93397759_93397761delGAG	uc001ybc.4	+	5	780_782	c.520_522delGAG	c.(520-522)gagdel	p.E179del	CHGA_uc001ybd.4_Intron	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	179					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGGggaggaagaggaggaggagg	0.665													---	305	---	---	9	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:94545821_94545823delCCT	uc001ycj.3	-	1	365_367	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	DDX24_uc010twq.2_In_Frame_Del_p.E46del|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													---	1233	---	---	12	---					
TNFAIP2	7127	broad.mit.edu	37	14	103599784	103599786	+	In_Frame_Del	DEL	AGC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr14:103599784_103599786delAGC	uc001ymm.1	+	8	1762_1764	c.1631_1633delAGC	c.(1630-1635)gagcag>gag	p.Q548del	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_In_Frame_Del_p.Q217del|TNFAIP2_uc010tya.1_In_Frame_Del_p.Q31del	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	548					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AAGACGGCCGAGCAGCAGCAGCA	0.626													---	752	---	---	9	---					
C15orf24	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:34393991_34393993delAGC	uc001zhm.3	-	0	61_63	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_uc001zho.3_5'Flank	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	16						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		ATCCCCCGATAGCAGCAGCAGCA	0.665													---	1188	---	---	8	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:40328597_40328599delTGC	uc001zkq.2	-	4	418_420	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_uc001zkr.2_3'UTR|LOC100131089_uc021sjc.1_5'Flank|LOC100131089_uc021sjd.1_5'Flank|LOC100131089_uc021sje.1_5'Flank|LOC100131089_uc001zks.2_5'Flank	NM_003134	NP_003125	P37108	SRP14_HUMAN	Homo sapiens signal recognition particle 14kDa (homologous Alu RNA binding protein) (SRP14), mRNA.	116	Ala/Thr-rich.				SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation|response to drug	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													---	420	---	---	7	---					
MESDC2	23184	broad.mit.edu	37	15	81281974	81281976	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:81281974_81281976delCTT	uc002bfy.1	-	0	230_232	c.157_159delAAG	c.(157-159)aagdel	p.K53del	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	53	Chaperone domain (By similarity).				Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGCGAATATCCTTCTTCTTCTTC	0.655													---	889	---	---	7	---					
GOLGA6L5	374650	broad.mit.edu	37	15	85055754	85055756	+	RNA	DEL	CTC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:85055754_85055756delCTC	uc002bkm.2	-	5		c.804_806delGAG								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CACGTAGCCTCTCCTCCTGTTCA	0.547													---	57	---	---	10	---					
SV2B	9899	broad.mit.edu	37	15	91832791	91832792	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr15:91832791_91832792insT	uc002bqv.3	+	12	2640_2641	c.1749_1750insT	c.(1747-1752)ctgtttfs	p.L583fs	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Frame_Shift_Ins_p.L432fs	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	583					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCTTCTTCCTGTTTTTTGGCAA	0.520													---	2355	---	---	7	---					
C16orf79	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:2260586_2260588delCAG	uc010bsh.3	-	1	350_352	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	C16orf79_uc002cpi.2_In_Frame_Del_p.L39del	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	39	Poly-Leu.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						CGGCcagcaccagcagcagcagc	0.660													---	383	---	---	7	---					
CREBBP	1387	broad.mit.edu	37	16	3778303	3778305	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:3778303_3778305delGCT	uc002cvv.3	-	30	6947_6949	c.6743_6745delAGC	c.(6742-6747)cagcgc>cgc	p.Q2248del	CREBBP_uc002cvw.3_In_Frame_Del_p.Q2210del	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2248	Poly-Gln.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCTGCATGCGCTGCTGCTGCTG	0.700			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						---	453	---	---	8	---					
LOC100132247	100132247	broad.mit.edu	37	16	22546050	22546051	+	In_Frame_Ins	INS	-	ATA	ATA			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:22546050_22546051insATA	uc010bxg.3	+	8	1928_1929	c.1746_1747insATA	c.(1744-1749)insATA	p.583_584insI	LOC100132247_uc010vbv.2_In_Frame_Ins_p.583_584insI|LOC100132247_uc021tew.1_In_Frame_Ins_p.583_584insI|LOC100132247_uc010bxi.3_In_Frame_Ins_p.564_565insI|LOC100132247_uc010bxk.3_In_Frame_Ins_p.400_401insI|DQ576951_uc021tey.1_5'Flank|DQ576951_uc010vbx.1_5'Flank|DQ576951_uc002dky.1_5'Flank	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		CTCAGCGGATGATCTCAAGACA	0.550													---	186	---	---	7	---					
USP31	57478	broad.mit.edu	37	16	23079694	23079695	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:23079694_23079695delAA	uc002dll.3	-	15	3731_3732	c.3731_3732delTT	c.(3730-3732)cttfs	p.L1244fs	USP31_uc002dlk.3_Frame_Shift_Del_p.L516fs|USP31_uc010vca.2_Frame_Shift_Del_p.L547fs|USP31_uc010bxm.3_Frame_Shift_Del_p.L532fs	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGTCTTGCCAAGATCCGTCGA	0.545													---	1096	---	---	526	---					
UBFD1	56061	broad.mit.edu	37	16	23569076	23569076	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:23569076delG	uc002dlv.3	+	0	215	c.13delG	c.(13-15)gggfs	p.G5fs	EARS2_uc002dls.4_5'Flank|EARS2_uc002dlt.4_5'Flank|EARS2_uc002dlu.3_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	Homo sapiens ubiquitin family domain containing 1 (UBFD1), mRNA.	5										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGCGGCGGCCGGGGCCCCGGA	0.731													---	35	---	---	10	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:55362674_55362676delGAG	uc002ehy.3	+	4	1317_1319	c.784_786delGAG	c.(784-786)gagdel	p.E268del	IRX6_uc002ehx.3_In_Frame_Del_p.E268del	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626													---	809	---	---	21	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	-	-	rs149029279		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:57486732_57486734delGAG	uc002elq.3	+	2	343_345	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_uc002elp.2_In_Frame_Del_p.E91del|COQ9_uc010vhn.2_In_Frame_Del_p.E91del|COQ9_uc010vho.2_In_Frame_Del_p.E91del|COQ9_uc010vhp.2_In_Frame_Del_p.E91del	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													---	1141	---	---	8	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:57731885_57731887delGGA	uc002emi.3	+	1	113_115	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_uc002emj.3_In_Frame_Del_p.E13del|CCDC135_uc002emk.3_In_Frame_Del_p.E13del	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	13						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													---	451	---	---	10	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	-	-	rs4788682	by1000genomes	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:72991713_72991715delCCA	uc002fck.3	-	1	3003_3005	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(2)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													---	772	---	---	18	---					
NPIPL2	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:74425400_74425402delCAA	uc010vmt.1	+	5	572_574	c.571_573delCAA	c.(571-573)caadel	p.Q192del				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	253										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCCTCCAACTCAACAACATTCTA	0.517													---	577	---	---	11	---					
MBTPS1	8720	broad.mit.edu	37	16	84103645	84103646	+	Splice_Site	INS	-	A	A			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr16:84103645_84103646insA	uc002fhi.3	-	14	2285	c.1783_splice	c.e14-1	p.S595_splice	MBTPS1_uc002fhh.3_Splice_Site_p.S99_splice	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	595					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATTTTTTGACTAAAAAAAAAGA	0.366													---	481	---	---	11	---					
GGNBP2	79893	broad.mit.edu	37	17	34943645	34943645	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:34943645delA	uc002hnb.3	+	12	2176	c.1860delA	c.(1858-1860)ggafs	p.G620fs		NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	620					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.S619S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCGATTCCGGAAAAGGTGCCA	0.468													---	1967	---	---	8	---					
CSF3	1440	broad.mit.edu	37	17	38172769	38172769	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38172769delT	uc002htp.3	+	3	458	c.344delT	c.(343-345)cttfs	p.L115fs	CSF3_uc002hto.3_Frame_Shift_Del_p.L112fs|CSF3_uc002htq.3_Frame_Shift_Del_p.L108fs|CSF3_uc021tww.1_Frame_Shift_Del_p.L76fs|CSF3_uc021twx.1_Frame_Shift_Del_p.L79fs|CSF3_uc010wep.2_Frame_Shift_Del_p.L72fs	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	115					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CATAGCGGCCTTTTCCTCTAC	0.627													---	1985	---	---	7	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:38978766_38978768delTCC	uc002hvi.3	-	0	96_98	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													---	316	---	---	17	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	126	---	---	21	---					
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:48940610_48940612delGTG	uc002isw.3	-	1	1210_1212	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_uc021uac.1_In_Frame_Del_p.P117del|TOB1_uc010wmz.2_In_Frame_Del_p.P256del|TOB1_uc021uad.1_In_Frame_Del_p.P256del	NM_005749	NP_005740	P50616	TOB1_HUMAN	Homo sapiens transducer of ERBB2, 1 (TOB1), transcript variant 1, mRNA.	256	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517													---	483	---	---	10	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:61899155_61899157delCTC	uc002jbz.3	-	13	1600_1602	c.1522_1524delGAG	c.(1522-1524)gagdel	p.E508del	FTSJ3_uc002jca.3_In_Frame_Del_p.E508del	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													---	1123	---	---	8	---					
CDC42EP4	23580	broad.mit.edu	37	17	71281585	71281587	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:71281585_71281587delTCC	uc002jjn.3	-	1	1200_1202	c.1053_1055delGGA	c.(1051-1056)gaggat>gat	p.E351del	CDC42EP4_uc002jjo.3_In_Frame_Del_p.E351del|CDC42EP4_uc002jjp.1_In_Frame_Del_p.E281del|CDC42EP4_uc021ucn.1_In_Frame_Del_p.E351del	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	351					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ACGGATTTCATCCTCCTCCTCCT	0.640													---	1014	---	---	7	---					
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	-	-	rs3833850		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:77808241_77808243delGTG	uc002jxe.3	-	4	1361_1363	c.1198_1200delCAC	c.(1198-1200)cacdel	p.H400del		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704													---	153	---	---	7	---					
SGSH	6448	broad.mit.edu	37	17	78184301	78184301	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr17:78184301delG	uc002jxz.4	-	7	1546	c.1459delC	c.(1459-1461)ctgfs	p.L487fs	SGSH_uc002jya.4_Frame_Shift_Del_p.L284fs|SGSH_uc002jxy.2_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	487					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTCTCCTCCAGGACGCCGTCG	0.652													---	197	---	---	105	---					
KLHL14	57565	broad.mit.edu	37	18	30350137	30350161	+	Frame_Shift_Del	DEL	CGAGCACCAGGCGCAGCCCGATGGA	-	-	rs139808282		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:30350137_30350161delCGAGCACCAGGCGCAGCCCGATGGA	uc002kxm.1	-	1	782_806	c.394_418delTCCATCGGGCTGCGCCTGGTGCTCG	c.(394-420)tccatcgggctgcgcctggtgctcgagfs	p.S132fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	132	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TAGAGGTACTCGAGCACCAGGCGCAGCCCGATGGACGAGCAGCCC	0.662													---	1120	---	---	102	---					
ONECUT2	9480	broad.mit.edu	37	18	55103477	55103479	+	In_Frame_Del	DEL	CAC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr18:55103477_55103479delCAC	uc002lgo.3	+	0	561_563	c.529_531delCAC	c.(529-531)cacdel	p.H184del		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	184	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ccaccatccgcaccaccaccacc	0.655													---	143	---	---	8	---					
SBNO2	22904	broad.mit.edu	37	19	1108827	1108829	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:1108827_1108829delGCT	uc002lrk.4	-	30	3803_3805	c.3565_3567delAGC	c.(3565-3567)agcdel	p.S1189del	SBNO2_uc002lrj.4_In_Frame_Del_p.S1132del|SBNO2_uc010dse.3_In_Frame_Del_p.S1172del	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	1189					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCAGGTAGCTGCTGCTGCTG	0.724													---	312	---	---	7	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:10262139delT	uc002mng.3	-	22	2332	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_uc010xlc.2_Frame_Shift_Del_p.M734fs|DNMT1_uc002mnh.3_Frame_Shift_Del_p.M613fs|DNMT1_uc010xld.2_Frame_Shift_Del_p.M718fs	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													---	1174	---	---	13	---					
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11038362_11038364delGCT	uc002mqc.3	-	3	348_350	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_uc002mqb.3_In_Frame_Del_p.Q74del|C19orf52_uc002mqd.2_5'Flank	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													---	608	---	---	15	---					
ELAVL3	1995	broad.mit.edu	37	19	11577605	11577605	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:11577605delC	uc002mry.1	-	1	427	c.47delG	c.(46-48)ggcfs	p.G16fs	ELAVL3_uc002mrx.1_Frame_Shift_Del_p.G16fs	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	16					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						gccggccgggcccccccccAC	0.652													---	167	---	---	8	---					
SLC27A1	376497	broad.mit.edu	37	19	17599665	17599683	+	Frame_Shift_Del	DEL	GCATGGCAGCCTTCGGCCA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:17599665_17599683delGCATGGCAGCCTTCGGCCA	uc002ngu.1	+	4	853_871	c.803_821delGCATGGCAGCCTTCGGCCA	c.(802-822)cgcatggcagccttcggccacfs	p.R268fs	SLC27A1_uc002ngt.1_Start_Codon_Del|SLC27A1_uc010xpp.1_Frame_Shift_Del_p.R89fs	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	268	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGTACTACCGCATGGCAGCCTTCGGCCACCACGCCTAC	0.662													---	220	---	---	39	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:38882864_38882866delCCT	uc002oim.3	+	2	363_365	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													---	239	---	---	10	---					
ZNF283	284349	broad.mit.edu	37	19	44351735	44351735	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:44351735delT	uc002oxr.4	+	6	1250	c.982delT	c.(982-984)tttfs	p.F328fs	ZNF283_uc002oxp.4_Frame_Shift_Del_p.F189fs	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGGGAAGGCCTTTTTTTGGGG	0.408													---	329	---	---	7	---					
PVRL2	5819	broad.mit.edu	37	19	45349842	45349844	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:45349842_45349844delGCT	uc002ozw.1	+	0	450_452	c.60_62delGCT	c.(58-63)ccgctg>ccg	p.L27del	PVRL2_uc002ozv.3_In_Frame_Del_p.L27del	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	27					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		tgctgtggccgctgctgctgctg	0.759													---	557	---	---	8	---					
PTH2	113091	broad.mit.edu	37	19	49926531	49926533	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:49926531_49926533delCAG	uc002pnn.1	-	0	166_168	c.64_66delCTG	c.(64-66)ctgdel	p.L22del		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	Homo sapiens parathyroid hormone 2 (PTH2), mRNA.	22					neuropeptide signaling pathway	extracellular region		p.L22V(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		AGGGCACCACcagcagcagcagc	0.690													---	382	---	---	13	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:54675747_54675749delTCC	uc010erf.3	-	1	333_335	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_uc002qdo.3_In_Frame_Del_p.E61del	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													---	815	---	---	9	---					
SYT5	6861	broad.mit.edu	37	19	55685979	55685979	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:55685979delT	uc002qjm.1	-	6	1926	c.866delA	c.(865-867)aagfs	p.K289fs	SYT5_uc002qjp.2_Frame_Shift_Del_p.K285fs|SYT5_uc002qjn.1_Frame_Shift_Del_p.K289fs|SYT5_uc002qjo.1_Frame_Shift_Del_p.K288fs	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	289	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTTCCGCACCTTTTTGCCGCC	0.527													---	1642	---	---	9	---					
ZFP28	140612	broad.mit.edu	37	19	57050569	57050570	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:57050569_57050570insG	uc002qnj.3	+	0	253_254	c.182_183insG	c.(181-183)gcgfs	p.A61fs	ZFP28_uc002qni.3_Frame_Shift_Ins_p.A61fs	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CAGCGAGGAGCGGCCCCTACGG	0.673													---	127	---	---	9	---					
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr19:58084579delA	uc002qpf.3	-	3	864	c.693delT	c.(691-693)tttfs	p.F231fs		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453													---	1243	---	---	8	---					
CD93	22918	broad.mit.edu	37	20	23066789	23066791	+	In_Frame_Del	DEL	AGC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:23066789_23066791delAGC	uc002wsv.3	-	0	187_189	c.39_41delGCT	c.(37-42)ctgctc>ctc	p.13_14LL>L		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	13					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGGTcaggagcagcagcagca	0.709													---	96	---	---	7	---					
ZNF217	7764	broad.mit.edu	37	20	52198641	52198642	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr20:52198641_52198642insT	uc002xwq.4	-	0	1066_1067	c.724_725insA	c.(724-726)actfs	p.T242fs	ZNF217_uc010gij.1_Frame_Shift_Ins_p.T234fs	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	242					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACCGAAAGCAGTTTTTTTGGTG	0.480													---	1357	---	---	7	---					
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:20918817_20918819delCAG	uc002zsp.3	+	5	612_614	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_uc002zsn.1_In_Frame_Del_p.Q107del|MED15_uc002zso.2_In_Frame_Del_p.Q117del|MED15_uc002zsq.3_In_Frame_Del_p.Q188del|MED15_uc010gso.3_In_Frame_Del_p.Q188del|MED15_uc002zsr.3_In_Frame_Del_p.Q162del|MED15_uc011ahs.2_In_Frame_Del_p.Q162del|MED15_uc011aht.1_In_Frame_Del_p.Q162del|MED15_uc002zss.3_In_Frame_Del_p.Q107del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	188	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	172	---	---	7	---					
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:20918916_20918918delCAG	uc002zsp.3	+	5	711_713	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_uc002zsn.1_In_Frame_Del_p.Q137del|MED15_uc002zso.2_In_Frame_Del_p.Q147del|MED15_uc002zsq.3_In_Frame_Del_p.Q218del|MED15_uc010gso.3_In_Frame_Del_p.Q218del|MED15_uc002zsr.3_In_Frame_Del_p.Q192del|MED15_uc011ahs.2_In_Frame_Del_p.Q192del|MED15_uc011aht.1_In_Frame_Del_p.Q192del|MED15_uc002zss.3_In_Frame_Del_p.Q137del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	251	---	---	8	---					
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:29445819_29445821delCAG	uc003aeg.3	+	7	1650_1652	c.1650_1652delCAG	c.(1648-1653)gacagc>gac	p.S557del	ZNRF3_uc021wnq.1_In_Frame_Del_p.S457del	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	557						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.660													---	455	---	---	11	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:38119882_38119884delCCT	uc003atr.3	+	6	1590_1592	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del	TRIOBP_uc003atu.3_In_Frame_Del_p.S270del|TRIOBP_uc003atq.1_In_Frame_Del_p.S442del|TRIOBP_uc003ats.1_In_Frame_Del_p.S270del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	442					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)					AATCCCAGAGCCTCCTCTCCCAG	0.601													---	743	---	---	14	---					
FAM109B	150368	broad.mit.edu	37	22	42473377	42473377	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42473377delG	uc003bbz.3	+	2	267	c.80delG	c.(79-81)tggfs	p.W27fs	FAM109B_uc021wqi.1_Frame_Shift_Del_p.W27fs|C22orf32_uc003bca.3_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.	27	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CTGCGCACCTGGGGGGGCCCA	0.632													---	1160	---	---	7	---					
C22orf32	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	-	-	rs141840500		TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42478046_42478048delGAT	uc003bca.3	+	1	382_384	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318	NP_201575	Q9H4I9	CV032_HUMAN	Homo sapiens chromosome 22 open reading frame 32 (C22orf32), mRNA.	107	Asp/Glu-rich.					integral to membrane|mitochondrion				ovary(1)	1						TGTTCCAGAGGATGATGATGATG	0.478													---	1241	---	---	18	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:42610776_42610778delTGC	uc003bcj.1	-	0	668_670	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													---	407	---	---	10	---					
BRD1	23774	broad.mit.edu	37	22	50216671	50216671	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chr22:50216671delT	uc011arg.2	-	0	1309	c.1295delA	c.(1294-1296)aagfs	p.K432fs	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Frame_Shift_Del_p.K432fs|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Frame_Shift_Del_p.K432fs	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	426					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTTCTTAGCCTTTTTTGCCTT	0.517													---	2011	---	---	7	---					
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:47030561_47030563delGGA	uc004dhi.3	+	3	760_762	c.531_533delGGA	c.(529-534)ggggag>ggg	p.E184del	RBM10_uc004dhe.2_In_Frame_Del_p.E109del|RBM10_uc004dhf.3_In_Frame_Del_p.E119del|RBM10_uc004dhh.3_In_Frame_Del_p.E119del|RBM10_uc010nhq.3_Intron|RBM10_uc004dhg.3_Intron	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	119	RRM 1.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.660													---	153	---	---	8	---					
PQBP1	10084	broad.mit.edu	37	X	48759668	48759669	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:48759668_48759669delAG	uc004dlh.3	+	4	560_561	c.451_452delAG	c.(451-453)agafs	p.R151fs	PQBP1_uc022bvv.1_Frame_Shift_Del_p.R143fs|PQBP1_uc004dle.3_Frame_Shift_Del_p.R151fs|PQBP1_uc004dlf.3_Frame_Shift_Del_p.R151fs|PQBP1_uc004dlg.3_Frame_Shift_Del_p.R151fs|PQBP1_uc004dln.3_Frame_Shift_Del_p.R151fs|PQBP1_uc004dlk.3_Intron|PQBP1_uc004dli.3_Frame_Shift_Del_p.R151fs|PQBP1_uc004dlj.1_Frame_Shift_Del_p.R151fs|PQBP1_uc004dlm.3_Frame_Shift_Del_p.R109fs|PQBP1_uc010nii.3_Frame_Shift_Del_p.R109fs|PQBP1_uc004dll.3_Intron|PQBP1_uc022bvw.1_Non-coding_Transcript|PQBP1_uc022bvx.1_Intron|PQBP1_uc010nij.3_Intron	NM_001032384	NP_005701	O60828	PQBP1_HUMAN	Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 5, mRNA.	151	7 X 2 AA tandem repeats of [DE]-R.|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAGGTAGACAGAGAGAGAGAG	0.619													---	182	---	---	9	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:70360680_70360682delGCA	uc004dyy.3	+	41	6439_6441	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_uc004dyz.3_In_Frame_Del_p.Q2085del|MED12_uc004dza.3_In_Frame_Del_p.Q1936del|MED12_uc010nla.3_In_Frame_Del_p.Q715del	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2086	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						---	251	---	---	8	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:102004419_102004421delGAG	uc022cbi.1	+	0	496_498	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_uc010nog.3_In_Frame_Del_p.E171del|BHLHB9_uc011mrq.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrr.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrs.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrt.2_In_Frame_Del_p.E171del|BHLHB9_uc004ejo.3_In_Frame_Del_p.E171del|BHLHB9_uc011mru.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrv.2_In_Frame_Del_p.E171del	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													---	690	---	---	13	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	-	-	rs7877654	byFrequency	TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:149937526_149937528delGGC	uc004fek.3	-	11	1026_1028	c.798_800delGCC	c.(796-801)ccgccc>ccc	p.266_267PP>P	CD99L2_uc011myb.2_In_Frame_Del_p.183_184PP>P|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.256_257PP>P|CD99L2_uc004fem.3_In_Frame_Del_p.207_208PP>P|CD99L2_uc004fen.3_In_Frame_Del_p.184_185PP>P	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	256					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													---	1179	---	---	7	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2A2-06A-11D-A196-08	TCGA-EE-A2A2-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea47c69-85e0-41ea-a728-c03756a9b1be	9fdb35fa-10b2-4127-9d3c-7d20fc371102	g.chrX:152087570_152087572delGAG	uc011myg.2	+	6	523_525	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_uc011myi.2_In_Frame_Del_p.E165del|ZNF185_uc011myj.2_In_Frame_Del_p.E165del|ZNF185_uc011myh.2_In_Frame_Del_p.E165del|ZNF185_uc011myk.2_In_Frame_Del_p.E165del|ZNF185_uc010ntv.2_In_Frame_Del_p.E165del|ZNF185_uc004fgw.4_In_Frame_Del_p.E30del|ZNF185_uc004fgu.3_5'UTR|ZNF185_uc004fgv.3_5'Flank	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													---	205	---	---	8	---					
