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
SERINC2	347735	broad.mit.edu	37	1	31897702	31897702	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:31897702G>A	uc021okm.1	+	3	674	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	SERINC2_uc010ogg.2_Missense_Mutation_p.R129Q|SERINC2_uc009vtw.1_Missense_Mutation_p.R125Q|SERINC2_uc001bst.3_Missense_Mutation_p.R125Q|SERINC2_uc001bsu.3_Missense_Mutation_p.R70Q|SERINC2_uc010ogh.2_Missense_Mutation_p.R129Q	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	125						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CGGGACCCCCGGGCTGCCATC	0.647												
WLS	79971	broad.mit.edu	37	1	68610274	68610274	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:68610274A>G	uc001dee.3	-	9	1636	c.1334T>C	c.(1333-1335)gTc>gCc	p.V445A	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Missense_Mutation_p.V447A|WLS_uc001deg.2_Missense_Mutation_p.V356A|WLS_uc009wbf.1_Missense_Mutation_p.V402A	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	447					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	p.M445T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GAAGAAGATGACAGTCATGGC	0.443												
SLC35A3	23443	broad.mit.edu	37	1	100464899	100464899	+	Silent	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:100464899A>C	uc001dsr.1	+	2	497	c.396A>C	c.(394-396)ccA>ccC	p.P132P	SLC35A3_uc001dsp.1_Silent_p.P90P|SLC35A3_uc009wdy.1_Silent_p.P90P|SLC35A3_uc001dss.1_Silent_p.P9P	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	Homo sapiens solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 (SLC35A3), mRNA.	90					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTGCTATTCCATCAGGGATCT	0.308												
THEM5	284486	broad.mit.edu	37	1	151820732	151820732	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:151820732G>A	uc021oyw.1	-	3	633	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	167							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGTCTCGTCCATCATGG	0.587												
CD1E	913	broad.mit.edu	37	1	158325309	158325309	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158325309G>A	uc001fse.3	+	2	868	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	CD1E_uc010pid.2_Missense_Mutation_p.R190Q|CD1E_uc010pie.2_Missense_Mutation_p.R93Q|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.R192Q|CD1E_uc001fsf.3_Missense_Mutation_p.R192Q|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.R93Q|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.R192Q|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	192	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACCTGCCCTCGATTTCTAGCG	0.507												
SPTA1	6708	broad.mit.edu	37	1	158621161	158621161	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158621161C>T	uc001fst.1	-	23	3672	c.3473G>A	c.(3472-3474)cGg>cAg	p.R1158Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1158					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTACCTGCCGGATTTGAGC	0.463												
SLAMF6	114836	broad.mit.edu	37	1	160461161	160461161	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:160461161G>T	uc001fwe.2	-	2	470	c.400C>A	c.(400-402)Caa>Aaa	p.Q134K	SLAMF6_uc010pji.2_Missense_Mutation_p.Q23K|SLAMF6_uc001fwd.2_Missense_Mutation_p.Q134K|SLAMF6_uc010pjh.2_Missense_Mutation_p.Q85K|SLAMF6_uc010pjj.2_Missense_Mutation_p.Q23K|SLAMF6_uc009wtm.2_Missense_Mutation_p.Q85K	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	134	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGGTAACTTGTATGTTCCTC	0.418												
SHCBP1L	81626	broad.mit.edu	37	1	182898838	182898838	+	Nonsense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:182898838T>A	uc001gpu.3	-	5	1411	c.1126A>T	c.(1126-1128)Aga>Tga	p.R376*	SHCBP1L_uc001gpv.3_Nonsense_Mutation_p.R257*|SHCBP1L_uc010pnz.2_Nonsense_Mutation_p.R234*|SHCBP1L_uc001gpw.3_Nonsense_Mutation_p.R96*	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	448										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CCAAATTCTCTTTTTCCTTTC	0.279												
NCF2	4688	broad.mit.edu	37	1	183532621	183532621	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:183532621G>A	uc001gqj.4	-	11	1401	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	NCF2_uc010pod.2_Missense_Mutation_p.R331W|NCF2_uc010poe.2_Missense_Mutation_p.R295W|NCF2_uc001gqk.4_Missense_Mutation_p.R376W	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	376	OPR.				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						ACCATGTCCCGGACCTGGCTG	0.567												
CFHR5	81494	broad.mit.edu	37	1	196977626	196977626	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:196977626T>C	uc001gts.4	+	9	1651	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	508	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GATCCATGTGTGGTATCTGAA	0.289												
USH2A	7399	broad.mit.edu	37	1	216498789	216498789	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:216498789C>T	uc001hku.1	-	5	1388	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	USH2A_uc001hkv.3_Missense_Mutation_p.R334Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	334	Laminin N-terminal.		R -> Q (in USH2A).|R -> W (in USH2A).		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)		AGGATTCAACCGTGACACTCT	0.468										HNSCC(13;0.011)		
OR14A16	284532	broad.mit.edu	37	1	247978682	247978682	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:247978682G>A	uc001idm.1	-	0	350	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCGGTCAAAGGACATCACCGT	0.483												
OR2L13	284521	broad.mit.edu	37	1	248263535	248263535	+	Silent	SNP	C	C	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:248263535C>A	uc001ids.3	+	2	1195	c.858C>A	c.(856-858)ccC>ccA	p.P286P	OR2L13_uc021pmc.1_Silent_p.P286P	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P286P(3)|p.P286S(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)			TGCTCAATCCCATTATCTACA	0.493												
C11orf35	256329	broad.mit.edu	37	11	556905	556905	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:556905C>T	uc001lpx.3	-	7	969	c.906G>A	c.(904-906)ccG>ccA	p.P302P	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	302										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCCGGGGCGGGTGCCCTA	0.697												
MUC5B	727897	broad.mit.edu	37	11	1156628	1156628	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:1156628C>T	uc021qbr.1	+	5	692	c.645C>T	c.(643-645)aaC>aaT	p.N215N				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	211	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P214Q(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACTTCAACGGGATGCCCG	0.617												
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:57365774_57365776delCTG	uc001nkp.1	+	1	222_224	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_uc010rju.1_Intron|SERPING1_uc010rjv.1_In_Frame_Del_p.L15del|SERPING1_uc001nkr.1_In_Frame_Del_p.L15del|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714												
C11orf2	738	broad.mit.edu	37	11	64876819	64876819	+	Missense_Mutation	SNP	C	C	T	rs140677028		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:64876819C>T	uc001ocr.1	+	5	1551	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.T380M	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	504					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						ATGTGCCAGACGGCTCAGAGC	0.647												
DYNC2H1	79659	broad.mit.edu	37	11	102988581	102988581	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:102988581C>T	uc001phn.1	+	5	1132	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	DYNC2H1_uc009yxe.1_Missense_Mutation_p.R330C|DYNC2H1_uc001pho.2_Missense_Mutation_p.R330C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	330	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|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)		ACTTGGCAAACGCCTTGAAGA	0.333												
TECTA	7007	broad.mit.edu	37	11	120998519	120998519	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:120998519C>T	uc010rzo.2	+	7	1833	c.1833C>T	c.(1831-1833)ccC>ccT	p.P611P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	611	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCAGCTGCCCCGACACATGCT	0.637												
TECTA	7007	broad.mit.edu	37	11	121031074	121031074	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:121031074G>A	uc010rzo.2	+	13	4920	c.4920G>A	c.(4918-4920)ccG>ccA	p.P1640P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1640	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGGAAGCCGGTGGTAAGCA	0.542												
TAS2R10	50839	broad.mit.edu	37	12	10978396	10978396	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:10978396T>C	uc001qyy.1	-	0	473	c.473A>G	c.(472-474)aAt>aGt	p.N158S		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	158					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						GACTGTGTCATTCTTCGTTTT	0.299												
GRIN2B	2904	broad.mit.edu	37	12	13720091	13720091	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:13720091G>C	uc001rbt.2	-	11	2645	c.2466C>G	c.(2464-2466)ttC>ttG	p.F822L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	822					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAACATGTAGAAGACCCCTG	0.507												
MTERFD3	80298	broad.mit.edu	37	12	107371558	107371559	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:107371558_107371559insAT	uc001tme.1	-	1	2753_2754	c.934_935insAT	c.(934-936)tccfs	p.S312fs	MTERFD3_uc001tmf.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmg.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc021rdh.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmh.1_Frame_Shift_Ins_p.S312fs	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGAGCTATGGAAATTCCTTCT	0.371												
PTPN11	5781	broad.mit.edu	37	12	112888189	112888189	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:112888189G>A	uc001ttx.3	+	2	585	c.205G>A	c.(205-207)Gag>Aag	p.E69K	PTPN11_uc001ttw.1_Missense_Mutation_p.E69K	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	69	SH2 1.		E -> K (in JMML; also in myelodysplastic syndrome).|E -> Q (in NS1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.E69K(33)|p.E69V(1)|p.E69G(1)|p.E69D(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTATGGAGGGGAGAAATTTGC	0.428			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome			
KSR2	283455	broad.mit.edu	37	12	117993006	117993006	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:117993006G>C	uc001two.2	-	8	1454	c.1399C>G	c.(1399-1401)Cag>Gag	p.Q467E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	496					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)					GGGAGCGTCTGACTGATGTGC	0.577												
GOLGA3	2802	broad.mit.edu	37	12	133373156	133373156	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:133373156G>A	uc001ukz.1	-	9	2628	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S690L|GOLGA3_uc001ulb.3_Missense_Mutation_p.S690L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	690	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGATGCCGCCGAGTCCGCCAT	0.622												
TUBA3C	7278	broad.mit.edu	37	13	19751438	19751438	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:19751438G>A	uc009zzj.3	-	3	790	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	229					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R229>?(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCAATCAGGCGATTGAGGTTG	0.547												
PAN3	255967	broad.mit.edu	37	13	28794483	28794483	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:28794483T>C	uc001urz.3	+	5	1120	c.968T>C	c.(967-969)aTg>aCg	p.M323T	PAN3_uc010tdo.1_Missense_Mutation_p.M323T|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.M123T	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	323	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CACCCATCCATGGGAAGCCCT	0.448												
OR4M1	441670	broad.mit.edu	37	14	20248896	20248896	+	Missense_Mutation	SNP	C	C	T	rs148303756	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:20248896C>T	uc010tku.2	+	0	415	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CATGAATCGACGTCTCTGCTG	0.517												
NRXN3	9369	broad.mit.edu	37	14	79432392	79432392	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:79432392G>A	uc001xun.3	+	8	1792	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R559H	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACCATACCCGTTTGGAGTTC	0.428												
CCDC88C	440193	broad.mit.edu	37	14	91755541	91755541	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:91755541G>A	uc010aty.3	-	24	4503	c.4349C>T	c.(4348-4350)cCg>cTg	p.P1450L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1450					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGATCTGAGCGGCTGAGAGGC	0.652												
abParts	0	broad.mit.edu	37	15	22440504	22440504	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:22440504A>G	uc001yuj.2	-											Parts of antibodies, mostly variable regions.																		GCATAGTGGGACTCGTACCAC	0.478												
ADAM10	102	broad.mit.edu	37	15	58957380	58957380	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:58957380G>A	uc002afd.1	-	4	945	c.501C>T	c.(499-501)taC>taT	p.Y167Y	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	167					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTGAGGACCGTATTTATGGG	0.348												
UACA	55075	broad.mit.edu	37	15	70959297	70959297	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:70959297G>C	uc002asr.3	-	15	3830	c.3726C>G	c.(3724-3726)agC>agG	p.S1242R	UACA_uc010uke.2_Missense_Mutation_p.S1133R|UACA_uc002asq.3_Missense_Mutation_p.S1229R|UACA_uc010bin.1_Missense_Mutation_p.S1217R	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1242						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTCATTTAAGCTAGAAATCT	0.323												
ALDH1A3	220	broad.mit.edu	37	15	101432805	101432805	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:101432805G>T	uc002bwn.4	+	3	540	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	ALDH1A3_uc010bpb.3_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	146					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ATACTTTGCAGGGTGGGCAGA	0.473												
SLX4	84464	broad.mit.edu	37	16	3658781	3658781	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr16:3658781A>G	uc002cvp.2	-	1	812	c.185T>C	c.(184-186)gTg>gCg	p.V62A	SLX4_uc002cvq.1_Missense_Mutation_p.V62A	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	62	Interaction with C20orf94, ERCC4 and MSH2.				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						ATGTTTTTTCACCCTTTGGAA	0.438								Direct reversal of damage				
CORO7-PAM16	79585	broad.mit.edu	37	16	4411454	4411454	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr16:4411454C>T	uc002cwf.3	-	16	2038	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R312H|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R532H|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R514H|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R447H|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.R312H|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GTCGGGCAGGCGGCCAGGCTT	0.667												
NF1	4763	broad.mit.edu	37	17	29654677	29654678	+	Frame_Shift_Ins	INS	-	-	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29654677_29654678insC	uc002hgg.3	+	37	5812_5813	c.5429_5430insC	c.(5428-5430)ctcfs	p.L1810fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.L1789fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.L822fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1810					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|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|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|Ras protein signal transduction|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	protein binding|Ras GTPase activator activity	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)		GGCACGCCGCTCACCTTCATGC	0.480			"""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)		
RAB11FIP4	84440	broad.mit.edu	37	17	29850999	29850999	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29850999C>A	uc002hgn.1	+	8	1347	c.1118C>A	c.(1117-1119)aCa>aAa	p.T373K	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.T271K	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	373	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CAAGAGAACACACAGCTGGTG	0.597												
ABCA10	10349	broad.mit.edu	37	17	67211983	67211983	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:67211983A>G	uc010dfa.1	-	8	1710	c.831T>C	c.(829-831)ccT>ccC	p.P277P	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Silent_p.P169P	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	277					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGAAGGCAAAAGGGCTAAGAA	0.353												
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:14513675T>C	uc010dln.3	-	9	1973	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	507								p.K507E(4)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284												
CTAGE1	64693	broad.mit.edu	37	18	19996611	19996611	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:19996611G>A	uc002ktv.1	-	0	1268	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	388						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGATCATTTCGTCTACTTTAG	0.343												
DSC2	1824	broad.mit.edu	37	18	28662997	28662997	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:28662997T>A	uc002kwl.4	-	7	1426	c.972A>T	c.(970-972)aaA>aaT	p.K324N	DSC2_uc002kwk.4_Missense_Mutation_p.K324N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	324	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)			TGTCTTGTACTTTTATTTTCA	0.308												
CELF4	56853	broad.mit.edu	37	18	34854357	34854357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:34854357G>A	uc002lae.2	-	5	1114	c.718C>T	c.(718-720)Cga>Tga	p.R240*	CELF4_uc021uix.1_Nonsense_Mutation_p.R239*|CELF4_uc021uiy.1_Nonsense_Mutation_p.R240*|CELF4_uc002lag.2_Nonsense_Mutation_p.R230*|CELF4_uc002laf.2_Nonsense_Mutation_p.R235*|CELF4_uc002lai.2_Nonsense_Mutation_p.R225*|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.A75V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	240	Necessary for TNNT2 exon 5 inclusion.|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	p.R239L(1)|p.R239W(1)		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						TGCTGCATTCGCCGCATCGTG	0.667												
PPAP2C	8612	broad.mit.edu	37	19	288137	288137	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:288137G>A	uc002loh.3	-	1	253	c.150C>T	c.(148-150)aaC>aaT	p.N50N	PPAP2C_uc002loi.3_Silent_p.N29N|PPAP2C_uc002loj.3_5'UTR	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	29					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTACGGGGCGTTCACCAGCG	0.617												
SLC39A3	29985	broad.mit.edu	37	19	2733313	2733313	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:2733313C>T	uc010xgy.1	-	2	635	c.381G>A	c.(379-381)gtG>gtA	p.V127V	SLC39A3_uc002lwg.3_Silent_p.V127V	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	127						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		AGTCGCTGCCCACGTCCGATC	0.662												
VAV1	7409	broad.mit.edu	37	19	6854017	6854017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:6854017C>T	uc002mfu.1	+	25	2489	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	VAV1_uc010xjh.1_Nonsense_Mutation_p.R766*|VAV1_uc010dva.1_Nonsense_Mutation_p.R776*|VAV1_uc002mfv.1_Nonsense_Mutation_p.R743*	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	798	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R798Q(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGCCCGAGACCGATCAGAGCT	0.552												
AKAP8L	26993	broad.mit.edu	37	19	15510183	15510183	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:15510183G>A	uc002naw.1	-	8	1186	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.R302C	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	363						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCAACTTGCGCTTGGTCTGG	0.602												
CPAMD8	27151	broad.mit.edu	37	19	17014389	17014389	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:17014389G>A	uc002nfb.3	-	33	4625	c.4593C>T	c.(4591-4593)gaC>gaT	p.D1531D	CPAMD8_uc002nfd.1_5'UTR	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1484						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCAGCAGCCGTCCCCCTTGG	0.617												
SLC25A42	284439	broad.mit.edu	37	19	19206999	19206999	+	Silent	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:19206999G>T	uc002nlf.2	+	1	222	c.66G>T	c.(64-66)tcG>tcT	p.S22S	SLC25A42_uc010xqn.1_Silent_p.S74S	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	22					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TCCTGTCCTCGTCCGTCTCAT	0.647												
MEGF8	1954	broad.mit.edu	37	19	42841352	42841352	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:42841352C>T	uc002otl.4	+	7	2142	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	MEGF8_uc002otm.4_Missense_Mutation_p.P44S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	503						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCAGGAACCCCTGAGGGTGA	0.572												
ETHE1	23474	broad.mit.edu	37	19	44015698	44015698	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:44015698G>A	uc010eiu.1	-	3	463	c.396C>T	c.(394-396)agC>agT	p.S132S	ETHE1_uc002owp.3_Silent_p.S132S	NM_014297	NP_055112	O95571	ETHE1_HUMAN	Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.	132						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGTGGCCAGGGCTGGCCCTGG	0.602												
GPR32	2854	broad.mit.edu	37	19	51274617	51274617	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51274617C>T	uc010ycf.2	+	0	760	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	254						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCCAACCGGCCCAAGAGGCT	0.612												
KLK8	11202	broad.mit.edu	37	19	51503469	51503469	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51503469A>G	uc002puq.1	-	3	597	c.411T>C	c.(409-411)gaT>gaC	p.D137D	KLK8_uc002pur.1_Silent_p.D92D|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.D92D|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	92	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GCTCTGGGCCATCTTTATTCT	0.537												
LILRB3	79168	broad.mit.edu	37	19	54744862	54744862	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:54744862C>T	uc010erh.1	-						LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.R267H|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.R267H|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.R267H|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.R267H|LILRB3_uc010yep.1_Missense_Mutation_p.R267H|LILRB3_uc010yeq.1_Missense_Mutation_p.R267H|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.R267H|LILRB3_uc002qev.1_Missense_Mutation_p.R128H	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.R267L(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGCCAGGGCGCTGGAGGAA	0.647												
KIR3DL2	3811	broad.mit.edu	37	19	55377847	55377847	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:55377847G>A	uc002qhl.4	+	7	1191	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	KIR3DL2_uc002qho.4_Silent_p.E376E|KIR3DL2_uc010esh.3_Silent_p.E359E			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	376					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGGACCAAGAGCCTGCGGGGG	0.542												
NLRP11	204801	broad.mit.edu	37	19	56313012	56313012	+	Silent	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56313012C>G	uc010ygf.2	-	6	2808	c.2097G>C	c.(2095-2097)acG>acC	p.T699T	NLRP11_uc002qlz.3_Silent_p.T546T|NLRP11_uc002qmb.3_Silent_p.T600T|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.	699							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)		GGGAAATGGACGTACAGTTGA	0.468												
NLRP13	126204	broad.mit.edu	37	19	56407321	56407321	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56407321T>A	uc010ygg.2	-	10	3147	c.3122A>T	c.(3121-3123)aAa>aTa	p.K1041I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	1041				KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241).			ATP binding	p.K1041R(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTACCCGAGTTTCTGCAGCCT	0.458												
ZSCAN22	342945	broad.mit.edu	37	19	58850663	58850663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:58850663delT	uc002qsc.2	+	2	1594	c.1447delT	c.(1447-1449)ttgfs	p.L483fs	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	483					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GATGGTTCACTTGCGGATCCA	0.577												
SOS1	6654	broad.mit.edu	37	2	39250170	39250170	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:39250170A>C	uc002rrk.4	-	9	1440	c.1399T>G	c.(1399-1401)Tta>Gta	p.L467V	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.L81V|SOS1_uc002rrl.3_Missense_Mutation_p.L199V	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	467	PH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CAAATCATTAAGCCATCAAAG	0.378									Noonan syndrome			
TGFA	7039	broad.mit.edu	37	2	70742023	70742023	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:70742023T>C	uc002sgs.4	-	1	310	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	TGFA_uc010fdq.3_Missense_Mutation_p.Q27R|TGFA_uc010fdr.3_Missense_Mutation_p.Q27R|TGFA_uc002sgt.4_Missense_Mutation_p.Q21R|TGFA_uc002sgu.3_Missense_Mutation_p.Q21R|TGFA_uc002sgv.3_Missense_Mutation_p.Q21R|TGFA_uc002sgw.3_Missense_Mutation_p.Q21R	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	21					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTCCAAGGCCTGGCACGCAGC	0.607												
ZNF638	27332	broad.mit.edu	37	2	71576267	71576267	+	Silent	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:71576267T>C	uc002shx.3	+	1	506	c.183T>C	c.(181-183)taT>taC	p.Y61Y	ZNF638_uc010fec.2_Silent_p.Y167Y|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Silent_p.Y61Y|ZNF638_uc002shz.3_Silent_p.Y61Y|ZNF638_uc002shy.3_Silent_p.Y61Y|ZNF638_uc002sia.3_Silent_p.Y61Y|ZNF638_uc002sib.1_Silent_p.Y61Y	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	61					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATGAATCTTATCAGAACATGG	0.448												
TTC30A	92104	broad.mit.edu	37	2	178481798	178481798	+	Silent	SNP	G	G	A	rs150534803		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:178481798G>A	uc002ulo.3	-	0	1897	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	544					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AATTCACAATGCAGAGATGGT	0.383												
TTN	7273	broad.mit.edu	37	2	179417389	179417389	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179417389C>T	uc021vsy.1	-	283	82759	c.82534G>A	c.(82534-82536)Gct>Act	p.A27512T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A21207T|TTN_uc021vta.1_Missense_Mutation_p.A21140T|TTN_uc021vtb.1_Missense_Mutation_p.A21015T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28439	Fibronectin type-III 100.						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)			CTTATGCCAGCGTGGGACCAC	0.453												
TTN	7273	broad.mit.edu	37	2	179448529	179448529	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179448529C>T	uc021vsy.1	-	260	57901	c.57676G>A	c.(57676-57678)Gta>Ata	p.V19226I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V12921I|TTN_uc021vta.1_Missense_Mutation_p.V12854I|TTN_uc021vtb.1_Missense_Mutation_p.V12729I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20153	Fibronectin type-III 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R19226C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGCTTCTACGAAATAGCCA	0.463												
TTN	7273	broad.mit.edu	37	2	179515501	179515501	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179515501C>G	uc021vsy.1	-	162	32609	c.32384G>C	c.(32383-32385)aGa>aCa	p.R10795T	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11722	Glu-rich.|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)			AGACTCCGCTCTTTCTGGAAC	0.423												
NYAP2	57624	broad.mit.edu	37	2	226446762	226446762	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:226446762C>T	uc002voe.2	+	3	804	c.629C>T	c.(628-630)aCg>aTg	p.T210M	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	210																	TTCGATGAAACGTACATCAAA	0.577												
UGT1A1	54657	broad.mit.edu	37	2	234628246	234628246	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:234628246C>T	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Silent_p.D260D|UGT1A1_uc002vux.3_Silent_p.D260D	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCCGAGGGGACTTTGTGATGG	0.527												
TATDN2	9797	broad.mit.edu	37	3	10302000	10302000	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:10302000G>A	uc011atr.2	+	2	1175	c.594G>A	c.(592-594)tcG>tcA	p.S198S	TATDN2_uc003bvg.2_Silent_p.S198S|TATDN2_uc003bvf.3_Silent_p.S198S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	198						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGGGGAAATCGATGCCAAAAA	0.557												
BSN	8927	broad.mit.edu	37	3	49694511	49694511	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:49694511G>A	uc003cxe.4	+	4	7636	c.7522G>A	c.(7522-7524)Gca>Aca	p.A2508T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTACACATGCAGCCTTCAT	0.642												
RBM6	10180	broad.mit.edu	37	3	50099537	50099537	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:50099537C>T	uc003cyc.3	+	14	2830	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	RBM6_uc010hlc.2_Missense_Mutation_p.T380M|RBM6_uc003cyd.3_Missense_Mutation_p.T339M|RBM6_uc011bdi.2_Missense_Mutation_p.T203M|RBM6_uc003cye.3_Missense_Mutation_p.T339M|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	861					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGGAGTGACGAGGGTAAGA	0.378												
RBM15B	29890	broad.mit.edu	37	3	51429849	51429850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:51429849_51429850insA	uc003dbd.3	+	0	1151_1152	c.1019_1020insA	c.(1018-1020)ttcfs	p.F340fs		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	340	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA 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)		CGCAACCTCTTCATTGGTAACC	0.609												
CADPS	8618	broad.mit.edu	37	3	62467450	62467450	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:62467450G>T	uc003dll.2	-	21	3481	c.3121C>A	c.(3121-3123)Caa>Aaa	p.Q1041K	CADPS_uc003dlj.1_5'UTR|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron|CADPS_uc021wzv.1_Intron	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1041	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTAGGCATTTGTGGGATGCCT	0.423												
ROBO2	6092	broad.mit.edu	37	3	77671470	77671470	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:77671470T>C	uc011bgk.2	+	23	4302	c.3659T>C	c.(3658-3660)gTt>gCt	p.V1220A	ROBO2_uc021xat.1_Missense_Mutation_p.V1232A|ROBO2_uc003dpy.4_Missense_Mutation_p.V1216A|ROBO2_uc003dpz.3_Missense_Mutation_p.V1220A|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1216					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)		GAAACGGATGTTGCAGATGAT	0.488												
MORC1	27136	broad.mit.edu	37	3	108724078	108724078	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:108724078G>A	uc003dxl.3	-	18	1939	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	MORC1_uc011bhn.2_Missense_Mutation_p.R597C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	618					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			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						TGTCCTCTACGGCTCGCTGAA	0.363												
ECT2	1894	broad.mit.edu	37	3	172501613	172501613	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:172501613C>G	uc003fii.2	+	14	1687	c.1549C>G	c.(1549-1551)Cct>Gct	p.P517A	ECT2_uc010hwv.1_Missense_Mutation_p.P548A|ECT2_uc003fih.2_Missense_Mutation_p.P516A|ECT2_uc003fij.1_Missense_Mutation_p.P517A|ECT2_uc003fik.1_Missense_Mutation_p.P517A|ECT2_uc003fil.1_Missense_Mutation_p.P548A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	517	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	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAACCTACCCTCCCTTTGT	0.308												
TP63	8626	broad.mit.edu	37	3	189582022	189582022	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:189582022A>C	uc003fry.2	+	5	669	c.580_splice	c.e5-1	p.Y194_splice	TP63_uc003frx.2_Splice_Site_p.Y194_splice|TP63_uc003frz.2_Splice_Site_p.Y194_splice|TP63_uc010hzc.1_Splice_Site_p.Y194_splice|TP63_uc003fsa.2_Splice_Site_p.Y100_splice|TP63_uc003fsb.2_Splice_Site_p.Y100_splice|TP63_uc003fsc.2_Splice_Site_p.Y100_splice|TP63_uc003fsd.2_Splice_Site_p.Y100_splice|TP63_uc021xir.1_Splice_Site_p.Y100_splice|TP63_uc010hzd.1_Splice_Site_p.Y15_splice|TP63_uc003fse.1_Splice_Site_p.Y75_splice	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	194					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTAAGCAGTATTCCACTGAA	0.463										HNSCC(45;0.13)		
CPN2	1370	broad.mit.edu	37	3	194062052	194062052	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194062052G>A	uc003fts.3	-	1	1470	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	CPN2_uc021xix.1_Silent_p.D460D	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	460					protein stabilization	extracellular region	enzyme regulator activity	p.P459P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCTTGCTTTCGTCCGGCCACG	0.657												
ATP13A3	79572	broad.mit.edu	37	3	194165469	194165469	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194165469C>T	uc003fty.4	-	13	1946	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	ATP13A3_uc003ftz.1_Missense_Mutation_p.R221Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	515					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATTTTCCACTCGTTGAATCCC	0.308												
FRAS1	80144	broad.mit.edu	37	4	79236806	79236806	+	Silent	SNP	T	T	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79236806T>G	uc003hlb.2	+	15	2177	c.1737T>G	c.(1735-1737)acT>acG	p.T579T	FRAS1_uc003hkw.3_Silent_p.T579T|FRAS1_uc003hky.1_Silent_p.T283T|FRAS1_uc003hkz.3_Silent_p.T283T|FRAS1_uc003hla.1_Silent_p.T90T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	579					cell communication	integral to membrane|plasma membrane	metal ion binding			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						TTACCTGTACTGAGAAGACAG	0.517												
FRAS1	80144	broad.mit.edu	37	4	79400786	79400786	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79400786C>T	uc003hlb.2	+	55	8797	c.8357C>T	c.(8356-8358)gCg>gTg	p.A2786V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2781	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			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						GGAAGGGTGGCGACAGCCAAG	0.522												
FHDC1	85462	broad.mit.edu	37	4	153881743	153881743	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:153881743C>T	uc003inf.2	+	3	765	c.690C>T	c.(688-690)ggC>ggT	p.G230G		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	230	FH2.				actin cytoskeleton organization		actin binding	p.G230G(2)	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)					CGTTTAGTGGCGACGTGTCGA	0.373												
TLR3	7098	broad.mit.edu	37	4	187003807	187003807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:187003807delA	uc003iyq.3	+	3	1068	c.967delA	c.(967-969)aatfs	p.N323fs	TLR3_uc011ckz.2_Frame_Shift_Del_p.N46fs|TLR3_uc003iyr.3_Frame_Shift_Del_p.N46fs	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	323					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|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-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CGGGCTTTTCAATGTGAGGTA	0.368												
PRDM9	56979	broad.mit.edu	37	5	23526688	23526688	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526688G>C	uc003jgo.3	+	10	1673	c.1491G>C	c.(1489-1491)gaG>gaC	p.E497D		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	497					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						TGGAAGAAGAGTCCAGAACAG	0.453										HNSCC(3;0.000094)		
PRDM9	56979	broad.mit.edu	37	5	23526750	23526750	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526750T>A	uc003jgo.3	+	10	1735	c.1553T>A	c.(1552-1554)aTc>aAc	p.I518N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	518					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						GGGGTAGGAATCTCAAGAATT	0.433										HNSCC(3;0.000094)		
SPEF2	79925	broad.mit.edu	37	5	35740247	35740247	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35740247T>A	uc003jjo.3	+	22	3319	c.3208T>A	c.(3208-3210)Ttt>Att	p.F1070I	SPEF2_uc003jjp.1_Missense_Mutation_p.F556I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1070					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCCAGGAGTTTCTAAAGCG	0.388												
UGT3A1	133688	broad.mit.edu	37	5	35988627	35988627	+	Missense_Mutation	SNP	G	G	A	rs150814543	by1000genomes	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35988627G>A	uc003jjv.2	-	1	314	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R41W|UGT3A1_uc011cor.2_Intron|UGT3A1_uc003jjy.2_5'UTR	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	41						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGACACCCGGTCCAACAGT	0.378												
SLC1A3	6507	broad.mit.edu	37	5	36677194	36677194	+	Silent	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:36677194G>C	uc003jkj.4	+	5	1244	c.768G>C	c.(766-768)gtG>gtC	p.V256V	SLC1A3_uc011cox.2_Silent_p.V149V|SLC1A3_uc010iuy.3_Silent_p.V256V	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	256					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TCGGTTTTGTGATTGGAAACA	0.473												
PIK3R1	5295	broad.mit.edu	37	5	67591259	67591261	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67591259_67591261delAAA	uc003jva.3	+	13	2337_2339	c.1757_1759delAAA	c.(1756-1761)caaaaa>caa	p.K587del	PIK3R1_uc003jvc.3_In_Frame_Del_p.K287del|PIK3R1_uc003jvd.3_In_Frame_Del_p.K317del|PIK3R1_uc003jve.3_In_Frame_Del_p.K266del|PIK3R1_uc021xzn.1_In_Frame_Del_p.K224del|PIK3R1_uc011crb.2_In_Frame_Del_p.K257del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	587					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(8)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TGGTTGACTCAAAAAGGTGTTCG	0.355			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
PIK3R1	5295	broad.mit.edu	37	5	67593227	67593245	+	Splice_Site	DEL	CTCTCCTCTCTAGGGTGGA	CTCTCCTCTCTAGGGTGGA	-	rs143771559	by1000genomes	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67593227_67593245delCTCTCCTCTCTAGGGTGGA	uc003jva.3	+	16	2566	c.1986_splice	c.e16-1	p.V662_splice	PIK3R1_uc003jvc.3_Splice_Site_p.V362_splice|PIK3R1_uc003jvd.3_Splice_Site_p.V392_splice|PIK3R1_uc003jve.3_Splice_Site_p.V341_splice|PIK3R1_uc021xzn.1_Splice_Site_p.V299_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	662	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGTTTTTCTTCTCTCCTCTCTAGGGTGGACGGCGAAGTA	0.429			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
MCTP1	79772	broad.mit.edu	37	5	94044306	94044306	+	Nonsense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:94044306T>A	uc003kkx.2	-	21	2839	c.2839A>T	c.(2839-2841)Aaa>Taa	p.K947*	MCTP1_uc003kkv.2_Nonsense_Mutation_p.K726*|MCTP1_uc003kkw.2_Nonsense_Mutation_p.K640*|MCTP1_uc003kku.2_Nonsense_Mutation_p.K463*	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	947					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTTGTAAATTTATTGATGCCT	0.353												
CHD1	1105	broad.mit.edu	37	5	98192335	98192335	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:98192335G>A	uc003knf.3	-	34	5030	c.4882C>T	c.(4882-4884)Cat>Tat	p.H1628Y	CHD1_uc010jbn.3_Missense_Mutation_p.H354Y	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1628	3 X 5 AA repeats of H-S-D-H-R.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGATCAGAATGAGATCTATCT	0.383												
PCDHAC2	56139	broad.mit.edu	37	5	140235776	140235776	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140235776C>T	uc003lhx.2	+	0	143	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A48V|PCDHAC2_uc011dad.2_Missense_Mutation_p.A48V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGCATCGCGCAGGACCTG	0.652												
PCDHAC2	56135	broad.mit.edu	37	5	140307515	140307515	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140307515G>A	uc003lih.2	+	0	1214	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.S346S	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	371	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S346S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCTTTCGAACCCAGTAC	0.517												
PCDHGC5	56101	broad.mit.edu	37	5	140778096	140778096	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140778096G>A	uc003lkf.2	+	0	402	c.402G>A	c.(400-402)acG>acA	p.T134T	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_uc011daw.2_Silent_p.T134T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	134	Cadherin 2.				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)			CAAAATTCACGCAAAATTCCT	0.423												
GABRA6	2559	broad.mit.edu	37	5	161128666	161128666	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:161128666A>G	uc003lyu.2	+	8	1587	c.1249A>G	c.(1249-1251)Ata>Gta	p.I417V	GABRA6_uc003lyv.2_Missense_Mutation_p.I188V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACCAGTAAAATAGACCAGTA	0.468										TCGA Ovarian(5;0.080)		
DSP	1832	broad.mit.edu	37	6	7584328	7584328	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr6:7584328T>C	uc003mxp.1	+	23	7112	c.6833T>C	c.(6832-6834)aTg>aCg	p.M2278T	DSP_uc003mxq.1_Missense_Mutation_p.M1679T|DSP_uc021yle.1_Missense_Mutation_p.M1835T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2278	Globular 2.				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)		TATGAGGCCATGAAAATTGGC	0.473												
DNAH11	8701	broad.mit.edu	37	7	21609750	21609750	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:21609750G>T	uc003svc.3	+	6	1289	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	420	Stem (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						ACTGGAAAAGGTGCAGGTGGC	0.383									Kartagener syndrome			
NPC1L1	29881	broad.mit.edu	37	7	44578753	44578753	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:44578753G>T	uc003tlb.3	-	1	1299	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	NPC1L1_uc011kbw.2_Missense_Mutation_p.P415T|NPC1L1_uc003tlc.3_Missense_Mutation_p.P415T|NPC1L1_uc003tld.3_Missense_Mutation_p.P415T	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	415					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACCGGTTAGGAGCCGTCAGG	0.592												
LANCL2	55915	broad.mit.edu	37	7	55467774	55467774	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:55467774G>A	uc003tqp.3	+	3	1233	c.655G>A	c.(655-657)Gtg>Atg	p.V219M		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	219					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	p.V219M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCCAGGCACCGTGTGTGAGTC	0.458												
SEMA3C	10512	broad.mit.edu	37	7	80374224	80374224	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:80374224A>G	uc011kgw.2	-	17	2375	c.2296T>C	c.(2296-2298)Ttg>Ctg	p.L766L	SEMA3C_uc003uhj.3_Silent_p.L748L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	748					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						GACTCTGGCAACTGATTCCTC	0.393												
KIAA1324L	222223	broad.mit.edu	37	7	86521207	86521207	+	Splice_Site	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:86521207T>A	uc011kha.2	-	21	3050	c.2865_splice	c.e21-1	p.K955_splice	KIAA1324L_uc003uie.3_Splice_Site_p.K788_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.K841_splice|KIAA1324L_uc003uif.2_Splice_Site_p.K707_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	955						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATTCCAGTCTAAATAGTGAT	0.303												
COL1A2	1278	broad.mit.edu	37	7	94042435	94042435	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:94042435T>A	uc003ung.1	+	25	2015	c.1544T>A	c.(1543-1545)cTt>cAt	p.L515H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	515					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		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)	CATGCTGGTCTTGCTGGTGCT	0.368										HNSCC(75;0.22)		
WNT2	7472	broad.mit.edu	37	7	116955387	116955387	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:116955387G>T	uc003viz.3	-	2	626	c.326C>A	c.(325-327)gCc>gAc	p.A109D	WNT2_uc003vja.3_Intron	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	109					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATAAACAAAGGCAGATTCCCG	0.403												
HYAL4	23553	broad.mit.edu	37	7	123508674	123508674	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:123508674T>C	uc003vlc.3	+	2	985	c.347T>C	c.(346-348)aTa>aCa	p.I116T	HYAL4_uc011knz.2_Missense_Mutation_p.I116T	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	116					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCACAGAACATAAGTTTACAA	0.393												
PLXNA4	91584	broad.mit.edu	37	7	131865369	131865369	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:131865369G>A	uc003vra.4	-	18	3844	c.3615C>T	c.(3613-3615)aaC>aaT	p.N1205N		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1205	IPT/TIG 4.					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						TGCCGATGAGGTTGGGGGACT	0.602												
PLAT	5327	broad.mit.edu	37	8	42036566	42036566	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:42036566G>A	uc003xos.2	-	12	1588	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	PLAT_uc010lxf.1_Missense_Mutation_p.S377L|PLAT_uc010lxg.1_Missense_Mutation_p.S285L|PLAT_uc003xot.2_Missense_Mutation_p.S414L|PLAT_uc011lcm.1_Missense_Mutation_p.S371L|PLAT_uc011lcn.1_Missense_Mutation_p.S334L	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	460	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)	CAGCCGCTCCGAATAGAAAGG	0.423												
RP1	6101	broad.mit.edu	37	8	55533600	55533600	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:55533600G>A	uc003xsd.1	+	1	222	c.74G>A	c.(73-75)cGc>cAc	p.R25H	RP1_uc011ldy.1_Missense_Mutation_p.R25H	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	25					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			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)			CCACCCCCTCGCCATTTGAGC	0.517												
NCOA2	10499	broad.mit.edu	37	8	71057034	71057034	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:71057034C>G	uc003xyn.1	-	12	2817	c.2655G>C	c.(2653-2655)caG>caC	p.Q885H	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	885					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGGTAAATTCTGGTTTGGCA	0.423			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""							
TTC39B	158219	broad.mit.edu	37	9	15214139	15214139	+	Silent	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:15214139G>C	uc003zlr.2	-	3	517	c.480C>G	c.(478-480)ccC>ccG	p.P160P	TTC39B_uc003zlq.2_Silent_p.P63P|TTC39B_uc011lmp.2_5'UTR|TTC39B_uc010mie.2_Silent_p.P160P|TTC39B_uc011lmr.2_Intron|TTC39B_uc011lmq.2_Silent_p.P160P|TTC39B_uc010mif.2_Silent_p.P160P|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Silent_p.P63P|TTC39B_uc011lms.2_Non-coding_Transcript	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	94							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TAAATTACCAGGGGCGAAGCA	0.373												
PTPN3	5774	broad.mit.edu	37	9	112200417	112200417	+	Silent	SNP	G	G	A	rs148263399		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:112200417G>A	uc004bed.2	-	7	676	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PTPN3_uc004beb.2_Silent_p.V57V|PTPN3_uc004bec.2_Silent_p.V57V|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.V188V|PTPN3_uc011lwh.1_Silent_p.V79V	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	188	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGAGATTCGACTTTTGTTA	0.438												
CRAT	1384	broad.mit.edu	37	9	131864744	131864744	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:131864744T>C	uc004bxh.3	-	4	847	c.565A>G	c.(565-567)Aca>Gca	p.T189A	CRAT_uc004bxk.4_Missense_Mutation_p.T168A	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTGCTGACTGTGTCCTGCTTG	0.617												
POMT1	10585	broad.mit.edu	37	9	134394274	134394274	+	Silent	SNP	C	C	T	rs139687326	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:134394274C>T	uc004cav.3	+	14	1684	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	POMT1_uc004cax.3_Silent_p.V472V|POMT1_uc011mcj.2_Silent_p.V250V|POMT1_uc004cau.3_Silent_p.V472V|POMT1_uc004caw.3_Silent_p.V418V|POMT1_uc011mck.2_Silent_p.V355V|POMT1_uc011mcl.2_Silent_p.V320V|POMT1_uc011mcm.2_Silent_p.V442V	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	494	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGGAGATCGTCGGGGAGAAGC	0.677												
COL5A1	1289	broad.mit.edu	37	9	137704532	137704532	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:137704532G>A	uc004cfe.3	+	47	4208	c.3826G>A	c.(3826-3828)Gga>Aga	p.G1276R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1276	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGGAATAGGAAACCCTGG	0.627												
LCN6	158062	broad.mit.edu	37	9	139639655	139639655	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:139639655C>T	uc004ciy.2	-	3	424	c.379G>A	c.(379-381)Ggg>Agg	p.G127R	LCN10_uc004civ.3_5'Flank|LCN10_uc010nbq.3_5'Flank|LCN10_uc011mee.2_5'Flank|LCN10_uc011mef.2_5'Flank|LCN10_uc011med.2_5'Flank|LCN10_uc004ciw.3_Non-coding_Transcript|LOC100128593_uc004ciz.1_5'Flank	NM_198946	NP_945184	P62502	LCN6_HUMAN	Homo sapiens lipocalin 6 (LCN6), mRNA.	127					single fertilization	extracellular region	binding			lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGCTCGTCCCCGAACTCCAGC	0.607												
CSF2RA	1438	broad.mit.edu	37	X	1407534	1407534	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:1407534A>G	uc010nct.2	+	6	665	c.343_splice	c.e6+1	p.G115_splice	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Splice_Site_p.G115_splice|CSF2RA_uc004cpq.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpn.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpo.2_Splice_Site_p.G115_splice|CSF2RA_uc010ncu.2_Splice_Site|CSF2RA_uc011mhc.1_Splice_Site|CSF2RA_uc004cpp.2_Splice_Site_p.G115_splice|CSF2RA_uc010ncv.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpr.2_Splice_Site_p.G115_splice	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	115						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATCCAAATTCAGGTAAGCAAG	0.443												
TLR7	51284	broad.mit.edu	37	X	12906437	12906437	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:12906437A>T	uc004cvc.3	+	2	2949	c.2810A>T	c.(2809-2811)cAg>cTg	p.Q937L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	937	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTACCAGGGCAGCCAGTTCTG	0.443												
BMX	660	broad.mit.edu	37	X	15526512	15526512	+	Silent	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:15526512C>G	uc004cww.3	+	1	224	c.36C>G	c.(34-36)ctC>ctG	p.L12L	BMX_uc004cwx.4_Silent_p.L12L|BMX_uc004cwy.4_Silent_p.L12L	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	12	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AACTTCTTCTCAAAAGATCAC	0.284												
CDKL5	6792	broad.mit.edu	37	X	18664128	18664128	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:18664128C>T	uc004cym.3	+	19	2967	c.2714_splice	c.e19-1	p.D905_splice	CDKL5_uc004cyn.3_Splice_Site_p.D905_splice|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	905					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493												
UBQLN2	29978	broad.mit.edu	37	X	56590893	56590893	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:56590893C>T	uc004dus.3	+	0	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L	UBQLN2_uc011moq.1_Missense_Mutation_p.S196L	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	196						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473												
ATRX	546	broad.mit.edu	37	X	76918879	76918879	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:76918879C>G	uc004ecp.4	-	11	4344	c.4112G>C	c.(4111-4113)aGa>aCa	p.R1371T	ATRX_uc004ecq.4_Missense_Mutation_p.R1333T|ATRX_uc004eco.4_Missense_Mutation_p.R1156T|ATRX_uc004ecr.2_Missense_Mutation_p.R1303T	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1371					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACCCTTTCTTCTGTTTCTGCC	0.418			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
POU3F4	5456	broad.mit.edu	37	X	82763915	82763915	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:82763915G>C	uc004eeg.2	+	0	647	c.583G>C	c.(583-585)Gaa>Caa	p.E195Q		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	195	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGATGAGTTGGAACAGTTCGC	0.582												
TAF7L	54457	broad.mit.edu	37	X	100538449	100538449	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538449C>G	uc004ehb.3	-	3	552	c.526G>C	c.(526-528)Gac>Cac	p.D176H	TAF7L_uc004eha.3_Missense_Mutation_p.D90H|TAF7L_uc004ehc.2_Missense_Mutation_p.D90H	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	176					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGAGAAATGTCTGCTGTTTTA	0.378												
TAF7L	54457	broad.mit.edu	37	X	100538507	100538507	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538507C>G	uc004ehb.3	-	3	494	c.468G>C	c.(466-468)ttG>ttC	p.L156F	TAF7L_uc004eha.3_Missense_Mutation_p.L70F|TAF7L_uc004ehc.2_Missense_Mutation_p.L70F	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	156					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TAACACAAGGCAAGTCAACCA	0.403												
KCNE1L	23630	broad.mit.edu	37	X	108868079	108868079	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:108868079G>A	uc004eoh.3	-	0	315	c.171C>T	c.(169-171)gaC>gaT	p.D57D		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	Homo sapiens KCNE1-like (KCNE1L), mRNA.	57					regulation of heart contraction	voltage-gated potassium channel complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GATAGGCGTCGTCGCCCTTGG	0.652												
XPNPEP2	7512	broad.mit.edu	37	X	128890500	128890500	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:128890500A>C	uc004eut.1	+	13	1580	c.1336A>C	c.(1336-1338)Atg>Ctg	p.M446L		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	446					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTCAGATGAGATGTACCTGCT	0.592												
MAGEC1	9947	broad.mit.edu	37	X	140994261	140994261	+	Silent	SNP	T	T	C	rs58302943	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:140994261T>C	uc004fbt.3	+	3	1395	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S16S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	357							protein binding	p.S357Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTTCTCCTGAGAGTG	0.468										HNSCC(15;0.026)		
FLNA	2316	broad.mit.edu	37	X	153592699	153592699	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:153592699G>A	uc004fkk.2	-	13	2313	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	FLNA_uc010nuu.1_Silent_p.A688A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	688					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GCTTGTTGACGGCCACACCTG	0.637												
