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
KIAA1751	85452	broad.mit.edu	37	1	1896365	1896365	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:1896365G>A	uc001aim.1	-	12	1693	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	KIAA1751_uc009vkz.1_Missense_Mutation_p.R513C	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	513										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTGAAGGGGCGTCCTTGGAAC	0.662												
RBMXL1	494115	broad.mit.edu	37	1	89448410	89448410	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:89448410C>T	uc021opo.1	-	0	1100	c.1100G>A	c.(1099-1101)aGc>aAc	p.S367N	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.S367N|RBMXL1_uc001dms.3_Missense_Mutation_p.S367N	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	367	Ser-rich.						nucleotide binding|RNA binding										TGCTCCGCGGCTTGAACTGCT	0.517												
GFI1	2672	broad.mit.edu	37	1	92946526	92946526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:92946526G>A	uc001dou.4	-	3	582	c.418C>T	c.(418-420)Cga>Tga	p.R140*	GFI1_uc001dov.4_Nonsense_Mutation_p.R140*|GFI1_uc001dow.4_Nonsense_Mutation_p.R140*	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	140					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCACACGGTCGGTAGCTCTGC	0.716												
DENND2C	163259	broad.mit.edu	37	1	115165651	115165651	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:115165651G>T	uc001efd.1	-	5	1715	c.1013C>A	c.(1012-1014)gCa>gAa	p.A338E	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.A338E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	338										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCTTCCATGCTGAAGGGGA	0.343												
USH2A	7399	broad.mit.edu	37	1	216595737	216595737	+	Translation_Start_Site	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:216595737C>T	uc001hku.1	-	1					USH2A_uc001hkv.3_5'UTR	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.						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)		ATCAGGCCCACGCCACTTGCC	0.408										HNSCC(13;0.011)		
HHIPL2	79802	broad.mit.edu	37	1	222717477	222717477	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:222717477G>C	uc001hnh.1	-	1	434	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	126					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGATTCCGGAGAGGCGTCTGG	0.587												
SNAP47	116841	broad.mit.edu	37	1	227935725	227935725	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:227935725T>A	uc001hrf.2	+	1	837	c.423T>A	c.(421-423)caT>caA	p.H141Q	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.H141Q|SNAP47_uc001hre.3_Intron	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	141						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCATCGAGCATTTCTGGAGGG	0.597												
OR6F1	343169	broad.mit.edu	37	1	247875632	247875632	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:247875632C>T	uc001idj.1	-	0	426	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGGCCAGCTGCGCTGAGAGCA	0.597												
IL15RA	3601	broad.mit.edu	37	10	5995110	5995110	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:5995110C>A	uc021pmo.1	-	7	1024	c.1010G>T	c.(1009-1011)tGg>tTg	p.W337L	IL15RA_uc010qau.2_Missense_Mutation_p.W218L|IL15RA_uc021pmp.1_Missense_Mutation_p.W188L|IL15RA_uc001iiv.3_Missense_Mutation_p.W251L|IL15RA_uc001iiw.3_Missense_Mutation_p.W215L|IL15RA_uc001iiy.3_Missense_Mutation_p.W99L	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	251					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGGTCCCCCAAGTCACCGG	0.557												
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:51754173G>T	uc001jix.4	+	3	778	c.380G>T	c.(379-381)aGc>aTc	p.S127I		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(4)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269												
DUSP13	51207	broad.mit.edu	37	10	76867879	76867879	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:76867879C>T	uc001jws.3	-	1	293	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	DUSP13_uc001jwu.3_Intron|DUSP13_uc001jww.3_Intron|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_Intron	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 1, mRNA.	80	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AAGTCAGGGCCGCCCTGACAG	0.622												
MUC2	4583	broad.mit.edu	37	11	1078153	1078153	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:1078153G>T	uc001lsx.1	+	3	547	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	174	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACTACAACGGCCTGCAGAG	0.667												
UBQLN3	50613	broad.mit.edu	37	11	5529867	5529867	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:5529867A>T	uc021qcw.1	-	0	922	c.922T>A	c.(922-924)Tcc>Acc	p.S308T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.S308T	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	308										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTGTGGAAGTCCAGGGG	0.517												
GYLTL1B	120071	broad.mit.edu	37	11	45946107	45946107	+	Silent	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:45946107A>C	uc001nbv.1	+	4	654	c.543A>C	c.(541-543)ctA>ctC	p.L181L	GYLTL1B_uc001nbw.1_Silent_p.L150L|GYLTL1B_uc001nbx.1_Silent_p.L181L	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	181					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TCTATGGGCTAATGAAGCTGG	0.612												
OR4S2	219431	broad.mit.edu	37	11	55419288	55419288	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:55419288T>A	uc001nhs.1	+	0	909	c.909T>A	c.(907-909)aaT>aaA	p.N303K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGGGCAGAAATGTTTTCTTGG	0.358												
MRE11A	4361	broad.mit.edu	37	11	94192689	94192689	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94192689A>T	uc009ywj.2	-	12	1714	c.1394T>A	c.(1393-1395)gTg>gAg	p.V465E	MRE11A_uc001peu.2_Missense_Mutation_p.V462E|MRE11A_uc001pev.2_Missense_Mutation_p.V462E			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	462					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTCCTTGTCCACAAATTCTTG	0.398								Homologous recombination	Ataxia-Telangiectasia-Like Disorder			
PIWIL4	143689	broad.mit.edu	37	11	94328516	94328516	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94328516G>A	uc001pfa.3	+	9	1403	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	398					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTGATGAAGGCTGTGGCTGA	0.502												
INHBE	83729	broad.mit.edu	37	12	57849443	57849443	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr12:57849443C>G	uc001snw.3	+	0	348	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	42					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						AGAACGAGCTCTGGTGCTGGA	0.622												
EP400NL	347918	broad.mit.edu	37	12	132589038	132589038	+	Missense_Mutation	SNP	A	A	G	rs144575305	by1000genomes	TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr12:132589038A>G	uc001ujv.3	+	0	497	c.473A>G	c.(472-474)gAc>gGc	p.D158G	EP400NL_uc001ujr.2_Intron|EP400NL_uc001ujs.4_Missense_Mutation_p.D89G|EP400NL_uc009zyq.3_Intron|EP400NL_uc001ujt.3_Intron|EP400NL_uc001ujw.1_5'Flank					Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CCTACAGGGGACTTCGTGGAT	0.667												
KCNRG	283518	broad.mit.edu	37	13	50589662	50589662	+	Silent	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:50589662G>C	uc001vdu.3	+	0	273	c.33G>C	c.(31-33)gtG>gtC	p.V11V	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Silent_p.V11V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	11	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	p.V11M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CTTTGAATGTGGGAGGGAAGA	0.433												
NEK3	4752	broad.mit.edu	37	13	52715184	52715184	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:52715184A>G	uc001vgh.3	-						NEK3_uc001vgi.3_Missense_Mutation_p.I299T|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Intron	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.						cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCCCAAAGCTATCCTGATTCT	0.428												
CTSG	1511	broad.mit.edu	37	14	25043567	25043567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:25043567G>A	uc001wpq.3	-	3	515	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	160	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.R160*(2)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGCACCTCTCGGAGTGTATCT	0.642												
CLMN	79789	broad.mit.edu	37	14	95669370	95669370	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:95669370C>G	uc001yef.2	-	8	2432	c.2316G>C	c.(2314-2316)gaG>gaC	p.E772D		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	772						integral to membrane	actin binding	p.E771K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CATCGGCCTCCTCCTCCCTGG	0.567												
HHIPL1	84439	broad.mit.edu	37	14	100118755	100118755	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:100118755C>T	uc010avs.3	+	1	515	c.450C>T	c.(448-450)tcC>tcT	p.S150S	HHIPL1_uc001ygl.1_Silent_p.S150S	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	150					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCTACCTGTCCCTGGATGACA	0.602												
ZNF609	23060	broad.mit.edu	37	15	64966530	64966530	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:64966530G>A	uc002ann.3	+	3	1477	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	493						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCTCCCCCGTCCTAATTGA	0.522												
ISLR	3671	broad.mit.edu	37	15	74468444	74468444	+	Silent	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:74468444G>C	uc002axg.1	+	1	1527	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	ISLR_uc002axh.1_Silent_p.L415L|ISLR_uc021sqf.1_Silent_p.L415L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	415					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGCTCCTGCTGGGCCAAAGCC	0.617												
ARNT2	9915	broad.mit.edu	37	15	80845010	80845010	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:80845010G>T	uc002bfr.3	+	9	1150	c.984G>T	c.(982-984)atG>atT	p.M328I	ARNT2_uc010unm.2_Missense_Mutation_p.M317I|ARNT2_uc002bfs.3_Missense_Mutation_p.M317I	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	328	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.M328I(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCATGGACATGAATGGGATGT	0.493												
C15orf26	161502	broad.mit.edu	37	15	81428924	81428924	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:81428924A>G	uc002bgb.3	+	2	254	c.227A>G	c.(226-228)gAt>gGt	p.D76G	C15orf26_uc010blp.1_Missense_Mutation_p.D51G	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	76										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAATCCTGATGATCCTGAC	0.408												
PAQR4	124222	broad.mit.edu	37	16	3021597	3021597	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:3021597C>T	uc002csj.4	+	2	804	c.470C>T	c.(469-471)tCg>tTg	p.S157L	PAQR4_uc002csk.4_Missense_Mutation_p.S118L|PAQR4_uc002csl.4_Missense_Mutation_p.S83L|PAQR4_uc010uwm.2_Missense_Mutation_p.S88L	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	157						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTGTGTTGTCGGGTGTGGCC	0.687												
MYH11	4629	broad.mit.edu	37	16	15841499	15841499	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:15841499T>C	uc002ddx.3	-	19	2467	c.2360A>G	c.(2359-2361)gAg>gGg	p.E787G	MYH11_uc002ddv.3_Missense_Mutation_p.E787G|MYH11_uc002ddw.3_Missense_Mutation_p.E780G|MYH11_uc002ddy.3_Missense_Mutation_p.E780G|MYH11_uc010bvg.3_Missense_Mutation_p.E612G	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	780	IQ.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.I786T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCTCGCTCCTCCTCTAGGTG	0.498			T	CBFB	AML							
RBBP6	5930	broad.mit.edu	37	16	24582927	24582927	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:24582927A>C	uc002dmh.3	+	17	5580	c.4540A>C	c.(4540-4542)Aaa>Caa	p.K1514Q	RBBP6_uc002dmi.3_Missense_Mutation_p.K1480Q|RBBP6_uc010bxr.3_Missense_Mutation_p.K674Q|RBBP6_uc002dmk.3_Missense_Mutation_p.K1347Q	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1514	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACAGAAAAATAAACCAAGGGA	0.368												
RNF40	9810	broad.mit.edu	37	16	30774800	30774800	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:30774800C>A	uc002dzq.3	+	3	1182	c.362C>A	c.(361-363)gCg>gAg	p.A121E	C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Missense_Mutation_p.A121E|RNF40_uc010cab.3_Missense_Mutation_p.A121E|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.A121E	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	121					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGTCTTCAGCGCCTGAGGCA	0.562												
ZNF23	7571	broad.mit.edu	37	16	71483233	71483233	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:71483233C>A	uc002faf.3	-	5	1509	c.695G>T	c.(694-696)aGc>aTc	p.S232I	ZNF23_uc002fah.3_Missense_Mutation_p.S232I|ZNF23_uc002fad.3_Missense_Mutation_p.S174I|ZNF23_uc010vmf.2_Missense_Mutation_p.S174I|ZNF23_uc002fag.3_Missense_Mutation_p.S174I|ZNF23_uc002fai.3_Missense_Mutation_p.S271I	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GTAGCTGAAGCTTTTCCCACA	0.448												
SMARCD2	6603	broad.mit.edu	37	17	61912798	61912798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:61912798G>A	uc010deb.1	-	4	1014	c.697C>T	c.(697-699)Cga>Tga	p.R233*	SMARCD2_uc010wpt.1_Nonsense_Mutation_p.R185*|SMARCD2_uc010dea.1_Nonsense_Mutation_p.R158*	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	233					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CCTTCCACTCGGAGTTCCCAG	0.572												
ABCA8	10351	broad.mit.edu	37	17	66928560	66928560	+	Silent	SNP	A	A	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:66928560A>T	uc002jhq.3	-	6	1006	c.666T>A	c.(664-666)acT>acA	p.T222T	ABCA8_uc002jhp.3_Silent_p.T222T|ABCA8_uc010wqq.2_Silent_p.T222T|ABCA8_uc010wqr.2_Silent_p.T161T|ABCA8_uc002jhr.3_Silent_p.T222T|ABCA8_uc002jhs.3_Silent_p.T222T|ABCA8_uc002jht.3_Silent_p.T222T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	222						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTACAAATCAGTTATAACTC	0.363												
CD7	924	broad.mit.edu	37	17	80274786	80274786	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:80274786C>A	uc002kel.1	-	1	263	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W	CD7_uc010din.3_Missense_Mutation_p.G52W|CD7_uc010wvk.1_Missense_Mutation_p.G52W	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	52	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	p.S51S(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CGCAGGCCCCCGCTGGTGGAG	0.647												
MUC16	94025	broad.mit.edu	37	19	9015333	9015333	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:9015333C>T	uc002mkp.3	-	29	38459	c.38255G>A	c.(38254-38256)aGa>aAa	p.R12752K	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12754	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGTCAGTCTGCAGCCAGA	0.517												
CYP4F3	4051	broad.mit.edu	37	19	15758065	15758065	+	Silent	SNP	G	G	A	rs138865516		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:15758065G>A	uc010xok.2	+	4	506	c.456G>A	c.(454-456)acG>acA	p.T152T	CYP4F3_uc010xol.2_Silent_p.T152T|CYP4F3_uc002nbj.3_Silent_p.T152T|CYP4F3_uc010xom.2_Silent_p.T3T|CYP4F3_uc002nbk.3_Silent_p.T152T|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	152					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGATGCTGACGCCTGCCTTCC	0.552												
ZNF493	284443	broad.mit.edu	37	19	21606980	21606980	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:21606980C>T	uc002npw.3	+	3	1638	c.1519C>T	c.(1519-1521)Cat>Tat	p.H507Y	ZNF493_uc002npx.3_Missense_Mutation_p.H379Y|ZNF493_uc002npy.3_Missense_Mutation_p.H379Y|ZNF493_uc021urq.1_Missense_Mutation_p.H379Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCTTAGTATACATAAAATAAT	0.328												
ZSCAN5A	79149	broad.mit.edu	37	19	56733609	56733609	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:56733609C>T	uc002qmq.3	-	4	992	c.826G>A	c.(826-828)Gtt>Att	p.V276I	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.V159I|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.V276I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.V275I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	276					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCTCCACAACGCAGGCAGAA	0.527												
ALLC	55821	broad.mit.edu	37	2	3727521	3727521	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:3727521G>A	uc010ewt.3	+	4	396	c.235G>A	c.(235-237)Gtt>Att	p.V79I		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	98							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGACGTGGACGTTTCTTACTT	0.532										HNSCC(21;0.051)		
TGFA	7039	broad.mit.edu	37	2	70680446	70680446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:70680446G>A	uc002sgs.4	-	4	627	c.379C>T	c.(379-381)Cga>Tga	p.R127*	TGFA_uc010fdq.3_Nonsense_Mutation_p.R133*|TGFA_uc010fdr.3_Nonsense_Mutation_p.R132*|TGFA_uc002sgt.4_Nonsense_Mutation_p.R126*|TGFA_uc002sgu.3_Nonsense_Mutation_p.R126*|TGFA_uc002sgv.3_Nonsense_Mutation_p.R127*|TGFA_uc002sgw.3_Nonsense_Mutation_p.R126*|Mir_548_uc021vjb.1_5'Flank	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	127					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						CAGTGTTTTCGGACCTGGCAG	0.632												
CNTNAP5	129684	broad.mit.edu	37	2	125660583	125660583	+	Silent	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:125660583G>A	uc010flu.3	+	21	3925	c.3561G>A	c.(3559-3561)gcG>gcA	p.A1187A	CNTNAP5_uc002tno.3_Silent_p.A1186A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1186	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCACTGTCGCGCCTGTGACTG	0.537												
TTN	7273	broad.mit.edu	37	2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179438951G>A	uc021vsy.1	-	274	64429	c.64204C>T	c.(64204-64206)Cgg>Tgg	p.R21402W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22329	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R21402C(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)			TTCAGCCACCGTCCATTAGGA	0.413												
TTN	7273	broad.mit.edu	37	2	179569359	179569359	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179569359A>C	uc021vsy.1	-	101	26333	c.26108T>G	c.(26107-26109)tTt>tGt	p.F8703C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F5364C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9630	Ig-like 70.						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)			GCTTATTTCAAATTTATCACT	0.368												
ALPPL2	251	broad.mit.edu	37	2	233272379	233272379	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:233272379T>C	uc002vss.4	+	3	429	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	126					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CAAGGGCAACTTCCAGACCAT	0.582												
GRIK1	2897	broad.mit.edu	37	21	31023612	31023612	+	Splice_Site	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:31023612C>T	uc002yno.1	-	6	1245	c.781_splice	c.e6-1	p.D261_splice	GRIK1_uc002ynn.3_Splice_Site_p.D261_splice|GRIK1_uc011acs.2_Splice_Site_p.D261_splice|GRIK1_uc011act.2_Splice_Site_p.D205_splice|GRIK1_uc010glq.1_Splice_Site_p.D119_splice|GRIK1_uc002ynr.3_Splice_Site_p.D261_splice	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	261					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAAATAAGTCCTGCATAGTAT	0.353												
CBS	875	broad.mit.edu	37	21	44478273	44478273	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:44478273G>C	uc002zcu.2	-	14	1694	c.1449C>G	c.(1447-1449)atC>atG	p.I483M	CBS_uc002zcs.1_Missense_Mutation_p.I378M|CBS_uc002zct.2_Missense_Mutation_p.I483M|CBS_uc002zcw.3_Missense_Mutation_p.I483M|CBS_uc002zcv.2_Missense_Mutation_p.I483M	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	483					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTGCTTGTAGATGACTTTGC	0.567												
CRELD1	78987	broad.mit.edu	37	3	9982660	9982660	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:9982660G>A	uc003buf.3	+	5	686	c.587G>A	c.(586-588)gGc>gAc	p.G196D	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.G196D|CRELD1_uc003bug.3_Missense_Mutation_p.G196D	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	196					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GGCCAGTGTGGCCTTGGCTAC	0.642												
PLS1	5357	broad.mit.edu	37	3	142383125	142383125	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:142383125C>G	uc010huv.3	+	1	205	c.46C>G	c.(46-48)Cta>Gta	p.L16V	PLS1_uc003euz.3_Missense_Mutation_p.L16V|PLS1_uc003eva.3_Missense_Mutation_p.L16V	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	16	EF-hand 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GCTTGAAGAACTACAAGAGGC	0.333												
GHSR	2693	broad.mit.edu	37	3	172165997	172165997	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:172165997C>T	uc003fib.2	-	0	250	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_uc011bpv.2_Silent_p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	69					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.S69S(3)|p.S69T(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657												
FRYL	285527	broad.mit.edu	37	4	48503638	48503638	+	Splice_Site	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48503638A>C	uc003gyh.1	-	62	9197	c.8592_splice	c.e62+1	p.E2864_splice	FRYL_uc003gye.1_Splice_Site_p.E46_splice|FRYL_uc003gyf.1_Splice_Site_p.E254_splice|FRYL_uc003gyg.1_Splice_Site_p.E1554_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2864					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGAATATTTACCTCTGCTTC	0.294												
FRYL	285527	broad.mit.edu	37	4	48537846	48537846	+	Splice_Site	SNP	T	T	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48537846T>C	uc003gyh.1	-	48	6999	c.6394_splice	c.e48-1	p.V2132_splice	FRYL_uc003gyg.1_Splice_Site_p.V828_splice|FRYL_uc003gyi.1_Splice_Site_p.V1020_splice|FRYL_uc003gyj.1_Splice_Site_p.V427_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2132					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGCACAAACCTAGAAAACAAA	0.318												
NPY5R	4889	broad.mit.edu	37	4	164272650	164272650	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:164272650A>G	uc003iqn.3	+	3	1407	c.1225A>G	c.(1225-1227)Att>Gtt	p.I409V	NPY5R_uc021xtw.1_Missense_Mutation_p.I409V	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	409					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTGTATTGCATTTGTCATTT	0.348												
TRIML1	339976	broad.mit.edu	37	4	189065255	189065255	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:189065255C>T	uc003izm.1	+	4	939	c.824C>T	c.(823-825)aCg>aTg	p.T275M	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	275	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.T275T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGCCGCATCACGGGAATGAAG	0.527												
CTNND2	1501	broad.mit.edu	37	5	11082954	11082954	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:11082954G>A	uc003jfa.1	-	15	2787	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	CTNND2_uc010itt.2_Missense_Mutation_p.S790L|CTNND2_uc011cmy.1_Missense_Mutation_p.S544L|CTNND2_uc011cmz.1_Missense_Mutation_p.S448L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S473L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	881					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATATATACTGACCACTGCAA	0.537												
AP3B1	8546	broad.mit.edu	37	5	77311333	77311333	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:77311333A>G	uc003kfj.3	-	25	3157	c.3032T>C	c.(3031-3033)aTt>aCt	p.I1011T		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	1011					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGGTGCAGCAATGATTACAGC	0.383									Hermansky-Pudlak syndrome			
GPR150	285601	broad.mit.edu	37	5	94956705	94956705	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:94956705C>T	uc003kle.1	+	0	726	c.726C>T	c.(724-726)gtC>gtT	p.V242V		NM_199243	NP_954713	Q8NGU9	GP150_HUMAN	Homo sapiens G protein-coupled receptor 150 (GPR150), mRNA.	242						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CGGGCTTCGTCGCGCCTGTTA	0.751												
PPIC	5480	broad.mit.edu	37	5	122359634	122359634	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:122359634G>A	uc003kth.3	-	4	680	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	192	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	p.S192S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	GTTGATGATCGAGCAGTTGGT	0.478												
SLC12A2	6558	broad.mit.edu	37	5	127520072	127520072	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:127520072A>G	uc003kus.3	+	24	3478	c.3314A>G	c.(3313-3315)gAg>gGg	p.E1105G	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.E1089G	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	1105					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATAGCTTTTGAGGAAATCATT	0.289												
PCDHAC2	56136	broad.mit.edu	37	5	140263877	140263877	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:140263877C>T	uc003lif.2	+	0	2024	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	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_uc003lie.1_Missense_Mutation_p.A675V|PCDHAC2_uc003lid.3_Missense_Mutation_p.A675V	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	688	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A675V(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)			AGCGGCCAAGCGCCACAGGCT	0.662												
PDGFRB	5159	broad.mit.edu	37	5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:149503887G>A	uc003lro.3	-	13	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	650	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""							
GABRG2	2566	broad.mit.edu	37	5	161520964	161520964	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:161520964A>G	uc010jjc.3	+	1	596	c.238A>G	c.(238-240)Aaa>Gaa	p.K80E	GABRG2_uc003lyy.4_Missense_Mutation_p.K80E|GABRG2_uc003lyz.4_Missense_Mutation_p.K80E|GABRG2_uc011dej.2_5'UTR	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	80					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATATGACAATAAACTTCGGCC	0.373												
GRM6	2916	broad.mit.edu	37	5	178415969	178415969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:178415969G>A	uc003mjr.3	-	5	1500	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	GRM6_uc010jla.1_Missense_Mutation_p.L24F|GRM6_uc003mjs.1_Missense_Mutation_p.L61F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	441					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TACTGCAGAAGCATCCGCCCA	0.642												
ZNF184	7738	broad.mit.edu	37	6	27420960	27420960	+	Silent	SNP	T	T	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:27420960T>G	uc003njj.3	-	4	1189	c.378A>C	c.(376-378)atA>atC	p.I126I	ZNF184_uc010jqv.3_Silent_p.I126I|ZNF184_uc003nji.3_Silent_p.I126I	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTTTTCCACTATTACCTCTG	0.413												
OR2H1	26716	broad.mit.edu	37	6	29430405	29430405	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:29430405G>A	uc003nmi.3	+	2	1302	c.859G>A	c.(859-861)Gta>Ata	p.V287I	OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TAACCCTCTCGTATACACCCT	0.493												
SUN3	256979	broad.mit.edu	37	7	48035742	48035742	+	Silent	SNP	T	T	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:48035742T>A	uc003tof.3	-	8	675	c.578_splice	c.e8-1	p.G193_splice	SUN3_uc010kyq.3_Splice_Site_p.G93_splice|SUN3_uc003tog.3_Splice_Site_p.G193_splice|SUN3_uc011kcf.2_Splice_Site_p.G181_splice	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	193	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGATGGAGGCTCCTAAAATTA	0.313												
ADAM22	53616	broad.mit.edu	37	7	87704970	87704970	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:87704970G>A	uc003ujn.3	+	3	568	c.353G>A	c.(352-354)aGa>aAa	p.R118K	ADAM22_uc003uji.2_Missense_Mutation_p.R117K|ADAM22_uc003ujj.2_Missense_Mutation_p.R118K|ADAM22_uc003ujk.2_Missense_Mutation_p.R118K|ADAM22_uc003ujl.2_Missense_Mutation_p.R118K|ADAM22_uc003ujm.3_Missense_Mutation_p.R118K|ADAM22_uc003ujo.3_Missense_Mutation_p.R118K|ADAM22_uc003ujp.1_Missense_Mutation_p.R170K	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	118					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TACATAGAGAGACACATTGAA	0.338												
SAMD9L	219285	broad.mit.edu	37	7	92764397	92764397	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:92764397G>T	uc003umh.1	-	4	2104	c.888C>A	c.(886-888)aaC>aaA	p.N296K	SAMD9L_uc003umj.1_Missense_Mutation_p.N296K|SAMD9L_uc003umi.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfb.1_Missense_Mutation_p.N296K|SAMD9L_uc003umk.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfc.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfd.1_Missense_Mutation_p.N296K|SAMD9L_uc022ahh.1_Missense_Mutation_p.N296K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	296										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGGTGTATTGTTCTGCAGAA	0.338												
AZGP1	563	broad.mit.edu	37	7	99564649	99564649	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:99564649C>G	uc003ush.3	-	3	966	c.874G>C	c.(874-876)Gtg>Ctg	p.V292L		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	292	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGGGCACCACGAGGGGCTGG	0.637												
TRPV6	55503	broad.mit.edu	37	7	142572331	142572331	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:142572331delG	uc003wbx.2	-	10	1594	c.1365delC	c.(1363-1365)tccfs	p.S455fs	TRPV6_uc003wbw.1_Frame_Shift_Del_p.S241fs|TRPV6_uc010lou.1_Frame_Shift_Del_p.S326fs	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	455					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CGAGTGCAAAGGACATGGGTA	0.592												
ARHGEF10	9639	broad.mit.edu	37	8	1808147	1808147	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:1808147C>T	uc003wpr.3	+	3	456	c.278C>T	c.(277-279)tCt>tTt	p.S93F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.S117F|ARHGEF10_uc003wps.3_Missense_Mutation_p.S93F|ARHGEF10_uc003wpt.3_Missense_Mutation_p.S7F|ARHGEF10_uc010lrd.2_Missense_Mutation_p.S7F|ARHGEF10_uc003wpu.3_Missense_Mutation_p.S7F	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	117					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AACCCATATTCTGTCATCGAC	0.597												
CHD7	55636	broad.mit.edu	37	8	61769309	61769309	+	Silent	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:61769309G>A	uc003xue.3	+	33	7962	c.7470G>A	c.(7468-7470)tcG>tcA	p.S2490S	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2490					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGCCTTTCGCGCACACCCA	0.483												
C8orf34	116328	broad.mit.edu	37	8	69621313	69621313	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:69621313C>T	uc010lyz.3	+	9	1618	c.1327_splice	c.e9+1	p.D443_splice	C8orf34_uc003xyb.3_Splice_Site_p.D332_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	357					signal transduction		cAMP-dependent protein kinase regulator activity	p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343												
KCNB2	9312	broad.mit.edu	37	8	73849588	73849588	+	Silent	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:73849588G>A	uc003xzb.3	+	2	2586	c.1998G>A	c.(1996-1998)acG>acA	p.T666T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	666					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGGATGGCACGCTGGAGTATG	0.567												
CCNE2	9134	broad.mit.edu	37	8	95900206	95900206	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:95900206A>C	uc003yhc.3	-	6	653	c.549T>G	c.(547-549)aaT>aaG	p.N183K	CCNE2_uc003yhd.2_Missense_Mutation_p.N183K	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	183					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GTTGAAGCATATTTTTATTTA	0.284												
ENPP2	5168	broad.mit.edu	37	8	120569830	120569830	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:120569830C>T	uc003yos.2	-	25	2765	c.2679G>A	c.(2677-2679)aaG>aaA	p.K893K	ENPP2_uc011lic.2_Silent_p.K379K|ENPP2_uc003yor.2_Silent_p.K476K|ENPP2_uc010mdd.2_Silent_p.K866K|ENPP2_uc003yot.2_Silent_p.K841K	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	841					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.R892Q(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCGGCTGGTCTTTCGGAAGA	0.468												
COL14A1	7373	broad.mit.edu	37	8	121326187	121326187	+	Missense_Mutation	SNP	G	G	A	rs142082215		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:121326187G>A	uc003yox.3	+	37	4737	c.4472G>A	c.(4471-4473)cGg>cAg	p.R1491Q	COL14A1_uc003yoz.3_Missense_Mutation_p.R456Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1491	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGGCCCTCGGGGTGAAATT	0.468												
COL22A1	169044	broad.mit.edu	37	8	139606377	139606377	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:139606377C>A	uc003yvd.3	-	62	4945	c.4498G>T	c.(4498-4500)Ggg>Tgg	p.G1500W	COL22A1_uc011ljo.2_Missense_Mutation_p.G780W	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1500	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGGGGGCCCAGGTCTGCCT	0.632										HNSCC(7;0.00092)		
BMP15	9210	broad.mit.edu	37	X	50659431	50659431	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:50659431C>A	uc011mnw.2	+	1	1052	c.1003C>A	c.(1003-1005)Ccc>Acc	p.P335T		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	335					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCTCAATTCCCCCAATCACGC	0.502												
BCORL1	63035	broad.mit.edu	37	X	129162640	129162640	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:129162640C>T	uc022cdu.1	+	6	4153	c.4109C>T	c.(4108-4110)tCc>tTc	p.S1370F	BCORL1_uc010nrd.1_Missense_Mutation_p.S1142F|BCORL1_uc004evc.2_Missense_Mutation_p.S132F	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1370					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAGACTTCCTCCTCCCAAAGT	0.483											OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
