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
LCK	3932	broad.mit.edu	37	1	32740011	32740011	+	Silent	SNP	A	A	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:32740011A>T	uc001bux.3	+	1	219	c.81A>T	c.(79-81)atA>atT	p.I27I	LCK_uc001buy.3_Silent_p.I27I|LCK_uc001buz.3_Silent_p.I27I|LCK_uc010ohc.1_Silent_p.I71I|LCK_uc001bva.3_Silent_p.I27I	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	27	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ATTATCCCATAGTCCCACTGG	0.547			T	TRB@	T-ALL							
AKR1A1	10327	broad.mit.edu	37	1	46027470	46027470	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46027470G>A	uc021omx.1	+	3	422	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	AKR1A1_uc009vxw.3_Missense_Mutation_p.A2T|AKR1A1_uc021omy.1_Missense_Mutation_p.A2T|AKR1A1_uc001cod.3_Missense_Mutation_p.A2T|AKR1A1_uc001coe.3_Missense_Mutation_p.A2T	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	2					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)					GGGGGCAATGGCGGCTTCCTG	0.522												
CCDC17	149483	broad.mit.edu	37	1	46086575	46086575	+	Silent	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46086575C>T	uc010olt.2	-	11	1749	c.1599_splice	c.e11+1	p.Q533_splice	CCDC17_uc010ols.2_Splice_Site_p.Q524_splice|CCDC17_uc001com.4_Splice_Site_p.Q354_splice|CCDC17_uc001con.4_Splice_Site|CCDC17_uc009vxz.3_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	Homo sapiens coiled-coil domain containing 17 (CCDC17), transcript variant 1, mRNA.	533										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CCACACTCACCTGAGGAATCC	0.592												
CDKN2C	1031	broad.mit.edu	37	1	51436083	51436083	+	Frame_Shift_Del	DEL	A	A	-	rs66765738		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:51436083delA	uc001csf.3	+	1	2018	c.43delA	c.(43-45)aggfs	p.R15fs	CDKN2C_uc001csg.3_Frame_Shift_Del_p.R15fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	15					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.R15fs*4(2)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGCAGCTGCCAGGGGGGACCT	0.468			D		"""glioma, MM"""							
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		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)		ggaaggggaaaaaaagaaggg	0.413												
FCRL4	83417	broad.mit.edu	37	1	157556156	157556156	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157556156C>T	uc001fqw.3	-	5	1073	c.937G>A	c.(937-939)Gct>Act	p.A313T	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	313	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.V312M(2)		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)				GTGCCTTCAGCCACGGAGCAG	0.597												
FCRL2	79368	broad.mit.edu	37	1	157718679	157718679	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157718679G>T	uc001fre.2	-	8	1438	c.1379C>A	c.(1378-1380)cCa>cAa	p.P460Q	FCRL2_uc001frd.2_Missense_Mutation_p.P207Q|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Missense_Mutation_p.P176Q	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	460					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACATACACTGGCTGCAGCTC	0.502												
CEP350	9857	broad.mit.edu	37	1	179965731	179965731	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:179965731G>A	uc001gnt.3	+	5	822	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CEP350_uc001gnr.1_Missense_Mutation_p.E121K|CEP350_uc009wxl.2_Missense_Mutation_p.E146K|CEP350_uc001gnu.3_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	147						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCCATCTGGAATCAAAGCA	0.378												
RYR2	6262	broad.mit.edu	37	1	237802446	237802446	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:237802446G>A	uc001hyl.1	+	45	7180	c.7060G>A	c.(7060-7062)Gcc>Acc	p.A2354T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2354	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATCAAAATCGCCGAGGATCC	0.493												
PAOX	196743	broad.mit.edu	37	10	135203245	135203245	+	Silent	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr10:135203245C>T	uc001lmv.3	+	5	1466	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	PAOX_uc001lmx.3_Intron|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	600					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	p.G462V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACGGCGCCGGCGCCCAGGTAT	0.741												
POU2AF1	5450	broad.mit.edu	37	11	111225126	111225126	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:111225126A>G	uc001plg.4	-	4	886	c.631T>C	c.(631-633)Tct>Cct	p.S211P		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	211					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TCTGGGATAGAGATGGGGAGC	0.622			T	BCL6	NHL							
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:115080343G>T	uc001ppi.4	-	7	1158	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_Silent_p.T95T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(10)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433												
HYOU1	10525	broad.mit.edu	37	11	118919049	118919049	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:118919049delA	uc001puu.2	-	19	2480	c.2287delT	c.(2287-2289)tccfs	p.S763fs	HYOU1_uc001put.2_Frame_Shift_Del_p.S728fs|HYOU1_uc010ryu.1_Frame_Shift_Del_p.S721fs|HYOU1_uc010ryv.1_Frame_Shift_Del_p.S652fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.S763fs|HYOU1_uc010ryw.2_Non-coding_Transcript	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	763						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCCTCTGTGGACACTTCCTGG	0.617												
CHEK1	1111	broad.mit.edu	37	11	125505406	125505406	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:125505406A>T	uc009zbo.3	+	6	1593	c.696A>T	c.(694-696)aaA>aaT	p.K232N	CHEK1_uc010sbi.2_Missense_Mutation_p.K232N|CHEK1_uc010sbh.2_Missense_Mutation_p.K248N|CHEK1_uc001qcf.4_Missense_Mutation_p.K232N|CHEK1_uc009zbp.3_Missense_Mutation_p.K232N|CHEK1_uc001qcg.4_Missense_Mutation_p.K232N	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	232	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ACCCTTGGAAAAAAATCGATT	0.373								Other conserved DNA damage response genes				
ETNK1	55500	broad.mit.edu	37	12	22778163	22778163	+	Silent	SNP	C	C	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:22778163C>G	uc001rft.3	+	0	88	c.66C>G	c.(64-66)ctC>ctG	p.L22L	ETNK1_uc009ziz.3_Silent_p.L22L|ETNK1_uc001rfs.3_Silent_p.L22L	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	22					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGCCGGGCTCAGTTCAGCTG	0.726												
TMTC1	83857	broad.mit.edu	37	12	29757135	29757135	+	Missense_Mutation	SNP	G	G	A	rs144467040		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:29757135G>A	uc021qwi.1	-	6	1285	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	TMTC1_uc001riz.3_Missense_Mutation_p.A58V|TMTC1_uc001rja.3_Missense_Mutation_p.A145V|TMTC1_uc001rjb.3_Missense_Mutation_p.A301V|TMTC1_uc001rjc.1_Missense_Mutation_p.A363V	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	409						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACTCTCTCCGCCACCACAAA	0.507												
MAPK1IP1L	93487	broad.mit.edu	37	14	55529424	55529424	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr14:55529424G>T	uc001xbq.1	+	2	271	c.107G>T	c.(106-108)gGc>gTc	p.G36V		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.	36	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						GGCTGGCCAGGCTCCAACCCT	0.537												
ZNF174	7727	broad.mit.edu	37	16	3458844	3458844	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:3458844G>A	uc002cvc.3	+	2	1964	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q		NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	383					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						AGCCATACCAGTGTGGCCAGT	0.542												
FUS	2521	broad.mit.edu	37	16	31202308	31202308	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:31202308G>A	uc002ebf.3	+	13	1523	c.1418G>A	c.(1417-1419)cGt>cAt	p.R473H	FUS_uc002ebe.2_Missense_Mutation_p.R469H|FUS_uc002ebg.3_Missense_Mutation_p.R268H|FUS_uc002ebh.3_Missense_Mutation_p.R472H	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	473	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATGATCGTCGTGGTGGCAGA	0.602			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""							
PDPR	55066	broad.mit.edu	37	16	70190589	70190589	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:70190589T>G	uc002eyf.1	+	18	3404	c.2447T>G	c.(2446-2448)tTt>tGt	p.F816C	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.F716C|PDPR_uc002eyg.1_Missense_Mutation_p.F483C|PDPR_uc002eyh.2_Missense_Mutation_p.F161C|PDPR_uc010vls.1_Missense_Mutation_p.F161C|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	816					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGCCTGGGCTTTGTGCACAAT	0.552												
MON1B	22879	broad.mit.edu	37	16	77229553	77229553	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:77229553G>A	uc002fez.3	+	4	1747	c.1417G>A	c.(1417-1419)Gct>Act	p.A473T	MON1B_uc010vnf.2_Missense_Mutation_p.A364T|MON1B_uc010vng.2_Missense_Mutation_p.A327T|MON1B_uc002ffa.3_Missense_Mutation_p.A353T	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	473							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TTACCACGTGGCTGAGAAGGA	0.587												
DNAAF1	123872	broad.mit.edu	37	16	84183927	84183927	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:84183927C>T	uc002fhl.4	+	2	513	c.332C>T	c.(331-333)aCg>aTg	p.T111M	DNAAF1_uc010chi.1_Non-coding_Transcript	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	111			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGAATGATACGCTGTATTTA	0.378												
OR1D5	8385	broad.mit.edu	37	17	2966349	2966349	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:2966349G>T	uc021tns.1	-	0	553	c.553C>A	c.(553-555)Ctg>Atg	p.L185M		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GCCAGCCACAGCAGGATGTAC	0.537												
USP6	9098	broad.mit.edu	37	17	5042663	5042663	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:5042663C>T	uc002gau.1	+	21	3422	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	USP6_uc002gav.1_Missense_Mutation_p.R398W|USP6_uc010ckz.1_Missense_Mutation_p.R81W|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	398					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAGTTCCAGCGGCCCATTTG	0.657			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts							
MKS1	54903	broad.mit.edu	37	17	56288050	56288050	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:56288050C>T	uc002ivr.2	-	10	1069	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	MKS1_uc010wnq.2_Missense_Mutation_p.V129I|MKS1_uc021uam.1_Missense_Mutation_p.V322I	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	332	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAAGTGGACGTAGAGATTG	0.423												
LLGL2	3993	broad.mit.edu	37	17	73555474	73555474	+	Silent	SNP	G	G	C			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:73555474G>C	uc002joh.3	+	5	667	c.513G>C	c.(511-513)tcG>tcC	p.S171S	LLGL2_uc002jog.1_Silent_p.S171S|LLGL2_uc010dgf.1_Silent_p.S171S|LLGL2_uc002joi.3_Silent_p.S171S|LLGL2_uc010dgg.2_Silent_p.S171S|LLGL2_uc002joj.3_Silent_p.S160S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	171					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCATCAGCTCGGACGCGGTGC	0.617												
RNF213	57674	broad.mit.edu	37	17	78355436	78355436	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:78355436G>A	uc002jyh.2	+	57	14177	c.14034G>A	c.(14032-14034)aaG>aaA	p.K4678K	RNF213_uc021uen.1_Silent_p.K4629K|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGTTGGCCAAGATGCTGGGAC	0.567												
DSC3	1825	broad.mit.edu	37	18	28584256	28584256	+	Silent	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr18:28584256C>T	uc002kwj.4	-	12	2120	c.1965G>A	c.(1963-1965)agG>agA	p.R655R	DSC3_uc002kwi.4_Silent_p.R655R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	655	Cadherin 5.				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)			CTTGGCCGGCCCTGTCTTTTA	0.383												
MUC16	94025	broad.mit.edu	37	19	9090417	9090417	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:9090417G>C	uc002mkp.3	-	0	1602	c.1398C>G	c.(1396-1398)agC>agG	p.S466R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	466	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S466R(3)		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						TTCTGATCTTGCTGTCAAGAG	0.522												
ZNF571	51276	broad.mit.edu	37	19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:38056190_38056193delGTAA	uc002ogs.1	-						LOC100507433_uc002ogm.3_Intron|LOC100507433_uc002ogn.3_Intron|LOC100507433_uc002ogo.3_Intron|LOC100507433_uc002ogp.3_Intron|LOC100507433_uc002ogq.3_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc002ogt.3_Frame_Shift_Del_p.T379fs|ZNF571_uc010efp.3_Frame_Shift_Del_p.T379fs			Q7Z3V5	ZN571_HUMAN	Homo sapiens zinc finger protein 571, mRNA (cDNA clone MGC:138690 IMAGE:40036719), complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377												
CCDC150	284992	broad.mit.edu	37	2	197540931	197540931	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr2:197540931C>T	uc002utp.1	+	10	1337	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_Missense_Mutation_p.A69V	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	401										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAGCCCATGCCAGTATCACA	0.388												
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353												
REM1	28954	broad.mit.edu	37	20	30072181	30072181	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30072181G>A	uc002wwa.3	+	4	1129	c.845G>A	c.(844-846)cGc>cAc	p.R282H	LINC00028_uc010ztn.1_5'Flank	NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	282	Arg-rich.|Calmodulin-binding (By similarity).				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			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)			AGCGCACGCCGCCGGGCACTC	0.701												
HCK	3055	broad.mit.edu	37	20	30689234	30689234	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30689234C>T	uc002wxh.3	+	12	1730	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L	HCK_uc010gdy.3_Missense_Mutation_p.P478L|HCK_uc021wbv.1_Missense_Mutation_p.P477L|HCK_uc002wxi.3_Missense_Mutation_p.P476L	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	498	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P477L(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAAACCGTCCGGAGGAGCGG	0.572												
ELMO2	63916	broad.mit.edu	37	20	45023078	45023078	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:45023078G>A	uc010zxr.1	-	2	254	c.44C>T	c.(43-45)cCa>cTa	p.P15L	ELMO2_uc002xrt.1_Missense_Mutation_p.P15L|ELMO2_uc002xru.1_Missense_Mutation_p.P15L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P15L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	15					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTAGCACCTGGCCACTCAAT	0.547												
APPL1	26060	broad.mit.edu	37	3	57302493	57302493	+	Missense_Mutation	SNP	A	A	G	rs144769112		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:57302493A>G	uc003dio.3	+	20	2108	c.1961A>G	c.(1960-1962)aAt>aGt	p.N654S	APPL1_uc011bey.1_Missense_Mutation_p.N637S|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.3_3'UTR	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	654	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		aaagaactcaataaacaaaaa	0.308												
MAGI1	9223	broad.mit.edu	37	3	65342645	65342645	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:65342645G>A	uc003dmn.3	-	22	4323	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	MAGI1_uc003dmm.3_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1295					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)		GCTGCCTTTCGGATCCCTTGC	0.592												
TMPRSS7	344805	broad.mit.edu	37	3	111794198	111794198	+	Missense_Mutation	SNP	G	G	A	rs142998665	by1000genomes	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:111794198G>A	uc010hqb.2	+	12	1606	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	TMPRSS7_uc011bhr.1_Missense_Mutation_p.R334H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	605	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCCCTTCACCGCATCATCGGA	0.537												
ABCF3	55324	broad.mit.edu	37	3	183906608	183906608	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:183906608A>G	uc003fmz.2	+	7	1029	c.896A>G	c.(895-897)gAg>gGg	p.E299G	ABCF3_uc003fna.2_Missense_Mutation_p.E293G|ABCF3_uc003fnb.2_5'UTR	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	299	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGGAGATTGAGGCTGACAAG	0.532												
CRIPAK	285464	broad.mit.edu	37	4	1389456	1389457	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:1389456_1389457delCA	uc003gdf.2	+	0	4117_4118	c.1157_1158delCA	c.(1156-1158)tcafs	p.S386fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	386	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCCTGCTCACACACGTGCC	0.639												
SORCS2	57537	broad.mit.edu	37	4	7719828	7719828	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:7719828G>A	uc003gkb.4	+	17	2342	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	SORCS2_uc011bwi.2_Missense_Mutation_p.R609Q	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	781						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGCCGCCCCGGGGCCTGCAG	0.652												
DRD5	1816	broad.mit.edu	37	4	9784478	9784478	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:9784478C>A	uc003gmb.4	+	0	1221	c.825C>A	c.(823-825)agC>agA	p.S275R		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	275					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		p.S275R(4)		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)	GCCGGAGCAGCGCAGCCTGCG	0.637												
CLOCK	9575	broad.mit.edu	37	4	56348941	56348941	+	Silent	SNP	G	G	A	rs149959118		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:56348941G>A	uc003haz.1	-	4	938	c.12C>T	c.(10-12)acC>acT	p.T4T	CLOCK_uc003hba.1_Silent_p.T4T	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	4					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TACAGCTTACGGTAAACAACA	0.274												
USP38	84640	broad.mit.edu	37	4	144141519	144141519	+	Silent	SNP	A	A	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:144141519A>T	uc003ijb.3	+	9	3573	c.3039A>T	c.(3037-3039)ggA>ggT	p.G1013G	USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	1013					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCCCAATGGATTTGATGACA	0.458												
PCDHB6	56130	broad.mit.edu	37	5	140532029	140532029	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr5:140532029C>G	uc003lir.3	+	0	2191	c.2191C>G	c.(2191-2193)Cca>Gca	p.P731A		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTCCCTTTCCAGGGCATCT	0.612												
FILIP1	27145	broad.mit.edu	37	6	76063397	76063397	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:76063397G>A	uc010kbe.3	-	4	1026	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	FILIP1_uc003phy.1_Missense_Mutation_p.R163W|FILIP1_uc003phz.3_Missense_Mutation_p.R64W|FILIP1_uc003pia.3_Missense_Mutation_p.R163W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	163										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGCATGCGCCGGTAGGTTTCT	0.428												
SGK1	6446	broad.mit.edu	37	6	134493370	134493370	+	Silent	SNP	T	T	C			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:134493370T>C	uc003qen.4	-	7	836	c.747A>G	c.(745-747)gaA>gaG	p.E249E	SGK1_uc003qeo.4_Silent_p.E344E|SGK1_uc011ect.2_Silent_p.E239E|SGK1_uc011ecu.2_Silent_p.E205E|SGK1_uc011ecv.2_Silent_p.E263E|SGK1_uc011ecw.2_Silent_p.E277E	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	249	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCTGTTGTGTTCAATGTTCT	0.468												
LRP11	84918	broad.mit.edu	37	6	150174287	150174287	+	Missense_Mutation	SNP	G	G	A	rs150922217	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:150174287G>A	uc003qng.2	-	1	947	c.623C>T	c.(622-624)gCg>gTg	p.A208V	LRP11_uc003qnh.1_Missense_Mutation_p.A208V	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA.	208						integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGAGGCGCATCCTTTTC	0.438												
SEMA3C	10512	broad.mit.edu	37	7	80433493	80433493	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:80433493A>G	uc011kgw.2	-	7	863	c.784T>C	c.(784-786)Ttc>Ctc	p.F262L	SEMA3C_uc003uhj.3_Missense_Mutation_p.F244L|SEMA3C_uc011kgx.1_Missense_Mutation_p.F96L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	244	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTTCTTTGAAGAAGAAGTAC	0.368												
COL1A2	1278	broad.mit.edu	37	7	94037543	94037543	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:94037543C>T	uc003ung.1	+	13	1159	c.688C>T	c.(688-690)Cca>Tca	p.P230S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	230					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P230S(2)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCCCCTGGCCCAGCTGTAAG	0.398										HNSCC(75;0.22)		
TRRAP	8295	broad.mit.edu	37	7	98552870	98552870	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:98552870G>A	uc003upp.3	+	39	6068	c.5859G>A	c.(5857-5859)gaG>gaA	p.E1953E	TRRAP_uc011kis.2_Silent_p.E1935E|TRRAP_uc003upr.3_Silent_p.E1652E	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1953					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E1935E(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGGAGGAGGGGCACACCG	0.642												
RELN	5649	broad.mit.edu	37	7	103191709	103191709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:103191709G>A	uc022ajr.1	-	40	6267	c.6107C>T	c.(6106-6108)gCg>gTg	p.A2036V	RELN_uc022ajq.1_Missense_Mutation_p.A2036V|RELN_uc010liz.3_Missense_Mutation_p.A2036V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2036					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTGGATCCGCGGATGAGCT	0.502												
KEL	3792	broad.mit.edu	37	7	142639989	142639989	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:142639989G>A	uc003wcb.3	-	16	2124	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	638					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCCCCAACGTCTGCAGCAT	0.502												
COL22A1	169044	broad.mit.edu	37	8	139606337	139606337	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr8:139606337C>T	uc003yvd.3	-	62	4985	c.4538G>A	c.(4537-4539)cGg>cAg	p.R1513Q	COL22A1_uc011ljo.2_Missense_Mutation_p.R793Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1513	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R1513Q(2)		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)			GGGGCCGGCCCGGCCTGGAAG	0.662										HNSCC(7;0.00092)		
ZNF322	387328	broad.mit.edu	37	9	99960660	99960660	+	Silent	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr9:99960660C>T	uc004axd.2	-	0	1193	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P	BC070371_uc004axb.2_5'Flank|BC070371_uc004axc.1_5'Flank|AK309476_uc010msl.1_Intron	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 2, mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										TACAGACAAACGGTTTTTCAC	0.443												
C5	727	broad.mit.edu	37	9	123745005	123745005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr9:123745005C>T	uc004bkv.3	-	25	3348	c.3318G>A	c.(3316-3318)tgG>tgA	p.W1106*		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1106					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCTCAACTAGCCACAATAAAG	0.299												
ACRC	93953	broad.mit.edu	37	X	70823913	70823913	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823913G>A	uc004eae.2	+	7	1287	c.786G>A	c.(784-786)tcG>tcA	p.S262S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	262	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.552												
ACRC	93953	broad.mit.edu	37	X	70823943	70823943	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823943G>A	uc004eae.2	+	7	1317	c.816G>A	c.(814-816)tcG>tcA	p.S272S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	272	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.557												
