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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GRN	2896	broad.mit.edu	37	17	42427699	42427699	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:42427699C>T	ENST00000053867.3	+	5	515	c.453C>T	c.(451-453)ccC>ccT	p.P151P	GRN_ENST00000589265.1_Silent_p.P151P	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	151					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGTGCTGCCCCATGCCCCAGG	0.617000													23	90					0	0	0.00229938	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221567	140221567	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140221567G>A	ENST00000531613.1	+	1	661	c.661G>A	c.(661-663)Gag>Aag	p.E221K	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E221K|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAAACCTGAGCTCACAGG	0.468000													10	47					0	0	0.000673444	0	0
RBP3	5949	broad.mit.edu	37	10	48387899	48387899	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:48387899G>A	ENST00000224600.4	-	1	3092	c.2979C>T	c.(2977-2979)tcC>tcT	p.S993S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	993	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGGGTCTCCGGAGAGCATCT	0.602000													12	80					0	0	0.000978159	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217790	44217790	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:44217790C>A	ENST00000371554.1	+	5	761	c.547C>A	c.(547-549)Ctc>Atc	p.L183I	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.L183I|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.L183I			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	183					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAAAGTGATCCTCCATCTTAA	0.433000													12	81					2.31682e-05	9.07205e-05	0.000308642	1	0
ERBB4	2066	broad.mit.edu	37	2	212576792	212576792	+	Silent	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:212576792T>G	ENST00000342788.4	-	9	1417	c.1107A>C	c.(1105-1107)ctA>ctC	p.L369L	ERBB4_ENST00000402597.1_Silent_p.L369L|ERBB4_ENST00000436443.1_Silent_p.L369L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	369					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TACCAGTGACTAGAAAGATCA	0.343000										TSP Lung(8;0.080)			10	26					0	0	0.00136819	0	0
EYA2	2139	broad.mit.edu	37	20	45702824	45702824	+	Nonsense_Mutation	SNP	C	C	T	rs149474635		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:45702824C>T	ENST00000327619.5	+	7	885	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	EYA2_ENST00000317304.6_Nonsense_Mutation_p.Q171*|EYA2_ENST00000357410.3_Nonsense_Mutation_p.Q171*	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	171					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CGGCTTCCCCCAGAGCCAGTA	0.597000													8	76					0	0	0.000673444	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585315	70585315	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:70585315G>A	ENST00000260126.3	-	10	3042	c.2336C>T	c.(2335-2337)aCc>aTc	p.T779I	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.T724I|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	779						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTCACTCACGGTGCTCAGGGG	0.502000													11	87					0	0	0.00136819	0	0
GLT1D1	144423	broad.mit.edu	37	12	129383812	129383812	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:129383812G>A	ENST00000442111.2	+	4	443	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	GLT1D1_ENST00000281703.6_Missense_Mutation_p.E119K|GLT1D1_ENST00000542193.1_Missense_Mutation_p.E20K|GLT1D1_ENST00000537468.1_Missense_Mutation_p.E108K			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	119					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GTCAATGAAGGAAATGGCACA	0.378000													15	87					0	0	0.000958276	0	0
PREX2	80243	broad.mit.edu	37	8	69021761	69021761	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:69021761G>A	ENST00000288368.4	+	25	3326	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1017					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTGCTAAAAGAAGAAGACTT	0.478000													9	51					0	0	0.000442599	0	0
RYR2	6262	broad.mit.edu	37	1	237580356	237580356	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:237580356C>T	ENST00000366574.2	+	11	1098	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	RYR2_ENST00000360064.6_Missense_Mutation_p.H259Y|RYR2_ENST00000542537.1_Missense_Mutation_p.H245Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	261	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAACTGTTCATTATGAAGG	0.393000													7	39					0	0	0.000157383	0	0
BIRC6	57448	broad.mit.edu	37	2	32832604	32832604	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:32832604C>T	ENST00000421745.2	+	72	14287	c.14153C>T	c.(14152-14154)cCc>cTc	p.P4718L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4718					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAGGCACTCCCAGTGGCACA	0.418000													15	120					0	0	0.00244969	0	0
CNR1	1268	broad.mit.edu	37	6	88854232	88854232	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:88854232G>A	ENST00000537554.1	-	2	4324	c.762C>T	c.(760-762)ggC>ggT	p.G254G	CNR1_ENST00000549890.1_Silent_p.G254G|CNR1_ENST00000468898.1_Silent_p.G221G|CNR1_ENST00000369501.2_Silent_p.G254G|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Silent_p.G193G|CNR1_ENST00000369499.2_Silent_p.G254G|CNR1_ENST00000535130.1_Silent_p.G254G|CNR1_ENST00000428600.2_Silent_p.G254G	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	254					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGCAGTTCCAGCCCAGGAGAG	0.542000													8	69					0	0	0.000442599	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22196440	22196440	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:22196440C>T	ENST00000344041.6	-	16	1477	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.E239K	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	239	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCCTCCGTTTCAGTCACAGTT	0.453000													7	61					0	0	0.000274275	0	0
SRRM4	84530	broad.mit.edu	37	12	119554778	119554778	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:119554778G>A	ENST00000267260.4	+	4	790	c.402G>A	c.(400-402)aaG>aaA	p.K134K		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	134	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCAAGAAAAAGAAGAAGAAAA	0.488000													6	40					0	0	0.00198382	0	0
OR5M1	390168	broad.mit.edu	37	11	56380268	56380268	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:56380268G>A	ENST00000526538.1	-	1	710	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ACGTAGAAAAGGCTTTGTGCC	0.448000													6	48					0	0	0.00198382	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211822	3211822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:3211822G>A	ENST00000380059.3	-	9	1245	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	SLC4A11_ENST00000380056.3_Missense_Mutation_p.P355S|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.P339S	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	355	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGGTACAAGGGGAACCTGCGT	0.602000													27	91					0	0	0.00178596	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457514	110457514	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:110457514C>T	ENST00000378402.5	+	38	5520	c.5416C>T	c.(5416-5418)Cca>Tca	p.P1806S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1806	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1808S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACTCCTCTCCCAGTTGGACA	0.468000										HNSCC(38;0.096)			5	98					0	0	0.00198382	0	0
KRT3	3850	broad.mit.edu	37	12	53189324	53189324	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:53189324C>T	ENST00000417996.2	-	1	577	c.503G>A	c.(502-504)gGg>gAg	p.G168E	KRT3_ENST00000309505.3_Missense_Mutation_p.G168E	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	168	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGAATTCCCCCAGGAAAGCC	0.607000													6	12					0	0	0.00116845	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661352	176661352	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176661352G>A	ENST00000367662.3	+	6	3686	c.2522G>A	c.(2521-2523)aGa>aAa	p.R841K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	841					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGAAAGCAGAAAGCCCACC	0.498000													31	135					0	0	0.000692331	0	0
OR8B8	26493	broad.mit.edu	37	11	124310895	124310895	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:124310895G>A	ENST00000328064.2	-	1	159	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTAGAAACAGGAAGAAGAGGG	0.507000													7	63					0	0	0.000157383	0	0
PRKCB	5579	broad.mit.edu	37	16	24166021	24166021	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:24166021G>A	ENST00000303531.7	+	10	1234	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	PRKCB_ENST00000321728.7_Missense_Mutation_p.R361Q	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	361	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTTTCAGAACGAAAAGGCACA	0.507000													5	54					0	0	0.000157383	0	0
SYT11	23208	broad.mit.edu	37	1	155837946	155837946	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:155837946C>T	ENST00000368324.4	+	2	478	c.225C>T	c.(223-225)atC>atT	p.I75I	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	75						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGAAGAAAATCATCAAAGTGC	0.507000													26	97					0	0	0.00047179	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560333	44560333	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:44560333C>T	ENST00000332567.4	-	1	1655	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	435					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GACTGGCTTTCCTGGACAGGA	0.577000													22	108					0	0	0.00229938	0	0
LCE1C	353133	broad.mit.edu	37	1	152777644	152777644	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:152777644C>T	ENST00000368768.1	-	2	361	c.311G>A	c.(310-312)aGc>aAc	p.S104N	LCE1C_ENST00000607093.1_Missense_Mutation_p.S104N	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	104	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACAGCAGCTGGAGCCCCC	0.672000													8	55					0	0	0.000308642	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751676	19751676	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:19751676G>A	ENST00000400113.3	-	4	551	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	149					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			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)		GCAGAGATGCGAACCCAGAGC	0.567000													11	71					0	0	0.000673444	0	0
FAM134A	79137	broad.mit.edu	37	2	220047132	220047132	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:220047132C>T	ENST00000430297.2	+	9	1549	c.1413C>T	c.(1411-1413)ccC>ccT	p.P471P		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	471						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTGTTCCCCAGGACTCAC	0.617000													13	63					0	0	0.000308642	0	0
COLEC12	81035	broad.mit.edu	37	18	334970	334970	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:334970C>T	ENST00000400256.3	-	6	1795	c.1588G>A	c.(1588-1590)Ggc>Agc	p.G530S		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	530	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTGGTGGGCCCGGGGGGCCT	0.716000													3	14					0	0	6.4e-05	0	0
SLC13A4	26266	broad.mit.edu	37	7	135375956	135375956	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:135375956C>T	ENST00000354042.4	-	13	2125	c.1436G>A	c.(1435-1437)gGt>gAt	p.G479D	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	479						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TACCTTGCTACCAGAAGCCAG	0.502000													5	61					0	0	0.00116845	0	0
ANAPC1	64682	broad.mit.edu	37	2	112541923	112541923	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:112541923G>A	ENST00000341068.3	-	41	5744	c.4972C>T	c.(4972-4974)Cca>Tca	p.P1658S		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1658					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGGAGTTCTGGAAGAAGGGTA	0.438000													13	97					0	0	0.000308642	0	0
RTEL1	51750	broad.mit.edu	37	20	62316917	62316917	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:62316917C>T	ENST00000318100.4	+	15	2060	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	RTEL1_ENST00000508582.2_Silent_p.S435S|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.S411S|RTEL1_ENST00000370018.3_Silent_p.S411S|RTEL1_ENST00000360203.5_Silent_p.S411S			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	411					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCCTGGTTCCCCAGCAGGGC	0.652000													9	36					0	0	0.00185496	0	0
DZIP3	9666	broad.mit.edu	37	3	108406916	108406916	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:108406916C>T	ENST00000361582.3	+	29	3473	c.3243C>T	c.(3241-3243)tcC>tcT	p.S1081S	DZIP3_ENST00000463306.1_Silent_p.S1081S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1081					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCAAGATTTCCCAGTTTATTG	0.348000													5	48					0	0	0.000602214	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165620	134165620	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:134165620G>A	ENST00000372264.3	+	1	540	c.236G>A	c.(235-237)gGc>gAc	p.G79D	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.G79D	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	79	interaction with MTOR (By similarity).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCCTTCAAGGGCATCGCCTTC	0.662000													18	58					0	0	0.00121646	0	0
JAK2	3717	broad.mit.edu	37	9	5044450	5044450	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:5044450G>A	ENST00000381652.3	+	5	892	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.R133Q	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	133	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AGAGCCTATCGGCATGGAATA	0.383000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				6	41					0	0	0.00116845	0	0
LIPI	149998	broad.mit.edu	37	21	15561360	15561360	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:15561360G>A	ENST00000344577.2	-	2	515	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	LIPI_ENST00000536861.1_Missense_Mutation_p.L143F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	143					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.L164V(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTTACCAAAAGATTTTTAATG	0.333000													4	41					0	0	0.000602214	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248762	140248762	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140248762A>T	ENST00000398640.2	+	1	74	c.74A>T	c.(73-75)gAg>gTg	p.E25V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATTCTGGGAGGTGGGGAGC	0.597000													19	112					0	0	0.00188189	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33637760	33637760	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:33637760G>A	ENST00000504830.1	-	12	2145	c.1810C>T	c.(1810-1812)Cgg>Tgg	p.R604W	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R604W|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	604	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCATCTGCCGAAATGTTGGT	0.468000										HNSCC(64;0.19)			6	52					0	0	0.00116845	0	0
LONRF2	164832	broad.mit.edu	37	2	100903447	100903447	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:100903447G>A	ENST00000393437.3	-	11	2638	c.1999C>T	c.(1999-2001)Ctc>Ttc	p.L667F	LONRF2_ENST00000409647.1_Missense_Mutation_p.L424F	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	667	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CGATCCTGGAGAGACGCGAAC	0.478000													9	37					0	0	0.000274275	0	0
C1QB	713	broad.mit.edu	37	1	22987377	22987377	+	Missense_Mutation	SNP	G	G	A	rs3211003		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:22987377G>A	ENST00000509305.1	+	3	600	c.254G>A	c.(253-255)gGa>gAa	p.G85E	C1QB_ENST00000314933.6_Missense_Mutation_p.G87E			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	87	Collagen-like 1.|Collagen-like 2.			N -> D (in Ref. 4; AA sequence).	complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGAATCCAGGAAAAGTCGGC	0.622000													5	48					0	0	0.00116845	0	0
DACH1	1602	broad.mit.edu	37	13	72131213	72131213	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:72131213C>T	ENST00000305425.4	-	6	1941	c.1519G>A	c.(1519-1521)Gga>Aga	p.G507R	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.G559R|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCCAAATCTCCCTCTTTGGGC	0.418000													6	40					0	0	0.00116845	0	0
ACKR3	57007	broad.mit.edu	37	2	237489144	237489144	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:237489144G>A	ENST00000272928.3	+	2	346	c.36G>A	c.(34-36)ggG>ggA	p.G12G		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CAGAGCCAGGGAACTTCTCGG	0.507000													5	65					0	0	0.000602214	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766297	171766297	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:171766297G>A	ENST00000311601.5	-	13	1982	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	604					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACTTCCTTGGCCAAGACCT	0.557000													14	83					0	0	0.00185496	0	0
MBD5	55777	broad.mit.edu	37	2	149227488	149227488	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:149227488G>A	ENST00000407073.1	+	9	2973	c.1976G>A	c.(1975-1977)aGa>aAa	p.R659K	MBD5_ENST00000404807.1_Missense_Mutation_p.R659K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	659						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGCGGAAAAGAAAACAACCA	0.478000													5	27					0	0	0.00198382	0	0
JPH2	57158	broad.mit.edu	37	20	42788512	42788512	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:42788512C>T	ENST00000372980.3	-	2	1787	c.915G>A	c.(913-915)gtG>gtA	p.V305V		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	305					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCGTTCGCTCACGCCGAAGC	0.687000													4	27					0	0	0.00024832	0	0
ALOX15B	247	broad.mit.edu	37	17	7950312	7950312	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:7950312G>A	ENST00000380183.4	+	10	1514	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	ALOX15B_ENST00000572022.1_Missense_Mutation_p.D459N|ALOX15B_ENST00000380173.2_Missense_Mutation_p.D430N|ALOX15B_ENST00000573359.1_Missense_Mutation_p.D430N	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	459	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCTGCCTGAGGATATCCGGAC	0.547000													10	63					0	0	0.000673444	0	0
CHRM3	1131	broad.mit.edu	37	1	240071876	240071876	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:240071876C>A	ENST00000255380.4	+	5	1904	c.1125C>A	c.(1123-1125)agC>agA	p.S375R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	375					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CGGGTCACAGCACCATCCTCA	0.602000													5	19					0.000602214	0.00234494	0.000602214	1	0
TNFRSF25	8718	broad.mit.edu	37	1	6522219	6522219	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:6522219G>A	ENST00000377782.3	-	9	854	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	TNFRSF25_ENST00000356876.3_Missense_Mutation_p.P254S|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.P71S|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.P217S|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.P209S	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	254					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTCCAAGGGTGACAGATGG	0.632000													9	79					0	0	0.000442599	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101773424	101773424	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:101773424G>A	ENST00000334289.3	-	6	1063	c.468C>T	c.(466-468)acC>acT	p.T156T		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	156	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CAGAGCCAATGGTATCCTTAA	0.343000													17	96					0	0	0.000958276	0	0
MXRA5	25878	broad.mit.edu	37	X	3238787	3238787	+	Missense_Mutation	SNP	C	C	T	rs150094241	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:3238787C>T	ENST00000217939.6	-	5	5093	c.4939G>A	c.(4939-4941)Gaa>Aaa	p.E1647K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1647						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTAGTTATTTCCGGTTTGTTG	0.453000													32	94					0	0	0.0024448	0	0
PABPC1L	80336	broad.mit.edu	37	20	43561048	43561048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:43561048G>A	ENST00000255136.3	+	9	1387	c.1305G>A	c.(1303-1305)tgG>tgA	p.W435*	PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000217073.2_Nonsense_Mutation_p.W435*|PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000372824.1_5'UTR	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	435	Pro-rich.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCCCAGGTGGACATCCCAGC	0.612000													21	67					0	0	0.00188189	0	0
MPP7	143098	broad.mit.edu	37	10	28378716	28378716	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:28378716G>A	ENST00000337532.5	-	13	1283	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	MPP7_ENST00000445954.2_Missense_Mutation_p.S211F|MPP7_ENST00000375732.1_Missense_Mutation_p.S336F|MPP7_ENST00000540098.1_Missense_Mutation_p.S336F|MPP7_ENST00000375719.3_Missense_Mutation_p.S336F	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	336					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTCATACATGGATTTATTTGT	0.323000													17	56					0	0	0.000566183	0	0
PSD3	23362	broad.mit.edu	37	8	18729272	18729272	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:18729272G>A	ENST00000440756.2	-	3	1204	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	PSD3_ENST00000327040.8_Missense_Mutation_p.P368S|PSD3_ENST00000523619.1_Missense_Mutation_p.P303S			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	368					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTCTCTGAAGGAGCTTTCCAG	0.468000													5	69					0	0	0.000602214	0	0
STAB2	55576	broad.mit.edu	37	12	104069737	104069737	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:104069737G>A	ENST00000388887.2	+	24	2788	c.2584G>A	c.(2584-2586)Gga>Aga	p.G862R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	862	EGF-like 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGAAGGAGATGGAACTCTGTG	0.502000													5	47					0	0	0.000602214	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891769	5891769	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:5891769G>A	ENST00000581347.1	-	3	939	c.294C>T	c.(292-294)gtC>gtT	p.V98V	TMEM200C_ENST00000383490.2_Silent_p.V98V|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	98						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CCGTGGTTGGGACCCGGTGGC	0.687000													12	60					0	0	0.00244969	0	0
ATP10D	57205	broad.mit.edu	37	4	47574913	47574913	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:47574913G>A	ENST00000273859.3	+	18	3534	c.3265G>A	c.(3265-3267)Gtt>Att	p.V1089I		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1089					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGACTTTGCCGTTTCTCAGTT	0.438000													47	242					0	0	0.000781405	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661369	176661369	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176661369C>A	ENST00000367662.3	+	6	3703	c.2539C>A	c.(2539-2541)Ccc>Acc	p.P847T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	847					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCATCCCCATTCCACC	0.512000													35	156					1.57019e-19	6.23249e-19	0.00170553	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255315	25255315	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:25255315G>A	ENST00000328086.7	-	6	2575	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	591					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGTGCTGGGGGAAGGAGCAGA	0.547000													7	65					0	0	0.00198382	0	0
IRGC	56269	broad.mit.edu	37	19	44223413	44223413	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:44223413G>A	ENST00000244314.5	+	2	902	c.703G>A	c.(703-705)Gac>Aac	p.D235N		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	235						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTGGGAGCACGACCTGCCCTC	0.667000													6	16					0	0	0.00116845	0	0
ZNF667	63934	broad.mit.edu	37	19	56952796	56952796	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:56952796C>T	ENST00000504904.3	-	7	2287	c.1568G>A	c.(1567-1569)gGa>gAa	p.G523E	ZNF667_ENST00000292069.6_Missense_Mutation_p.G523E|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.G651E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGGCTTCTCTCCAGTGTGAAT	0.433000													9	37					0	0	0.000274275	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298302	4298302	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:4298302G>A	ENST00000301272.2	-	2	132	c.87C>T	c.(85-87)ccC>ccT	p.P29P	TMIGD2_ENST00000595645.1_Silent_p.P29P|TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	29	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAAGTTGGGCCCCTGCT	0.617000													6	25					0	0	0.00116845	0	0
DRD3	1814	broad.mit.edu	37	3	113890585	113890585	+	Missense_Mutation	SNP	C	C	G	rs76256558		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:113890585C>G	ENST00000383673.2	-	2	685	c.255G>C	c.(253-255)tgG>tgC	p.W85C	DRD3_ENST00000467632.1_Missense_Mutation_p.W85C|DRD3_ENST00000295881.7_Missense_Mutation_p.W85C|DRD3_ENST00000460779.1_Missense_Mutation_p.W85C	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	85					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGTATACCACCCAGGGCATCA	0.547000													13	96					0	0	0.000308642	0	0
FNDC9	408263	broad.mit.edu	37	5	156770028	156770028	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:156770028C>T	ENST00000312349.4	-	2	704	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	173						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TGCAGGTCTTCCTCCCTCTGA	0.617000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	114					0	0	0.00185496	0	0
ABHD5	51099	broad.mit.edu	37	3	43753262	43753262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:43753262C>T	ENST00000458276.2	+	4	691	c.568C>T	c.(568-570)Caa>Taa	p.Q190*		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	190					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		CCTTGCTGATCAAGACAGACC	0.458000													17	79					0	0	0.00074312	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912570	29912570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:29912570G>A	ENST00000308748.5	+	1	530	c.278G>A	c.(277-279)tGg>tAg	p.W93*	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	93					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTGTTCCTCTGGTACTGCTAC	0.682000													14	72					0	0	0.00244969	0	0
COL5A1	1289	broad.mit.edu	37	9	137620555	137620555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:137620555G>A	ENST00000371817.3	+	6	1240	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	276	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E276K(1)		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)		CTATTACTACGAATACCCCTA	0.607000													25	130					0	0	0.00047179	0	0
CRIM1	51232	broad.mit.edu	37	2	36737131	36737131	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:36737131G>A	ENST00000280527.2	+	9	1874	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	503					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CACAGCCGAGGAACTATGTTC	0.498000													17	56					0	0	0.000958276	0	0
MAP3K15	389840	broad.mit.edu	37	X	19378894	19378894	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:19378894C>A	ENST00000338883.4	-	29	3914	c.3915G>T	c.(3913-3915)gaG>gaT	p.E1305D	MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E740D|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E1137D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1305							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTTCTGAGGCCTCCTGAGCCC	0.507000													6	22					8.12818e-05	0.000316854	0.00198382	1	0
TLN2	83660	broad.mit.edu	37	15	63089460	63089460	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:63089460G>A	ENST00000561311.1	+	47	6323	c.6093G>A	c.(6091-6093)acG>acA	p.T2031T	TLN2_ENST00000306829.6_Silent_p.T2031T			Q9Y4G6	TLN2_HUMAN	talin 2	2031					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TAGAAGACACGAAACTACTTG	0.592000													7	78					0	0	0.000157383	0	0
USP1	7398	broad.mit.edu	37	1	62914219	62914219	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:62914219G>A	ENST00000339950.4	+	8	2319	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	USP1_ENST00000371146.1_Missense_Mutation_p.D502N	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	502					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGTAGGAGAAGATAAATATTT	0.348000													10	72					0	0	0.000673444	0	0
STAG2	10735	broad.mit.edu	37	X	123190022	123190022	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:123190022A>T	ENST00000371160.1	+	14	1531	c.1241A>T	c.(1240-1242)tAt>tTt	p.Y414F	STAG2_ENST00000371157.3_Missense_Mutation_p.Y414F|STAG2_ENST00000218089.9_Missense_Mutation_p.Y414F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.Y345F|STAG2_ENST00000371145.3_Missense_Mutation_p.Y414F|STAG2_ENST00000371144.3_Missense_Mutation_p.Y414F			Q8N3U4	STAG2_HUMAN	stromal antigen 2	414					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAAAATGTCTATCATCTGGTT	0.363000													19	51					0	0	0.000958276	0	0
ACTL9	284382	broad.mit.edu	37	19	8808355	8808355	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:8808355C>T	ENST00000324436.3	-	1	817	c.697G>A	c.(697-699)Gcg>Acg	p.A233T		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	233						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGCATCTCCGCCAGGAAGGCG	0.637000													6	52					0	0	0.00198382	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269672	150269672	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:150269672C>T	ENST00000255945.2	+	3	689	c.514C>T	c.(514-516)Cca>Tca	p.P172S	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.P186S	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	172							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGGAAGCTCCAGAAGACAT	0.468000													10	79					0	0	0.000442599	0	0
NBPF18P	441908	broad.mit.edu	37	1	151991192	151991192	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:151991192G>A	ENST00000432386.1	+	0	2256					NR_103561.1																						ATGAACACTGGAGAAATCAAC	0.493000													7	71					0	0	0.000274275	0	0
HELZ2	85441	broad.mit.edu	37	20	62194861	62194861	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:62194861G>A	ENST00000467148.1	-	8	5383	c.5314C>T	c.(5314-5316)Ccc>Tcc	p.P1772S	HELZ2_ENST00000427522.2_Missense_Mutation_p.P1203S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GAGCCGTAGGGGACGGGGCAG	0.736000													5	7					0	0	0.000602214	0	0
DNAH17	8632	broad.mit.edu	37	17	76457746	76457746	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:76457746G>A	ENST00000389840.5	-	58	9301	c.9177C>T	c.(9175-9177)ctC>ctT	p.L3059L	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.L3068L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTCTGCTTGAGCTCAGCCT	0.562000													4	27					0	0	0.00116845	0	0
STC1	6781	broad.mit.edu	37	8	23711947	23711947	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:23711947C>T	ENST00000290271.2	-	1	373	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	30					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTCGGGATTTCCTGGGGCTCA	0.532000													13	75					0	0	0.00136819	0	0
FGF12	2257	broad.mit.edu	37	3	191888273	191888273	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:191888273G>A	ENST00000454309.2	-	4	1412	c.587C>T	c.(586-588)tCa>tTa	p.S196L	FGF12_ENST00000430714.1_Missense_Mutation_p.S97L|FGF12_ENST00000264730.3_Missense_Mutation_p.S134L|FGF12_ENST00000445105.1_Missense_Mutation_p.S134L|FGF12_ENST00000450716.1_Missense_Mutation_p.S134L	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	196					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TACAAAATGTGATGAGGGCTT	0.438000													12	107					0	0	0.000978159	0	0
DZIP1	22873	broad.mit.edu	37	13	96237103	96237103	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:96237103C>T	ENST00000347108.3	-	20	2843	c.2411G>A	c.(2410-2412)gGa>gAa	p.G804E	DZIP1_ENST00000361156.3_Missense_Mutation_p.G785E|DZIP1_ENST00000361396.2_Missense_Mutation_p.G785E|DZIP1_ENST00000376829.2_Missense_Mutation_p.G804E			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	804					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGATTTTTTTCCCAAAGATAT	0.428000													16	66					0	0	0.000422831	0	0
ATP9B	374868	broad.mit.edu	37	18	77067158	77067158	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:77067158A>G	ENST00000426216.2	+	15	1714	c.1697A>G	c.(1696-1698)gAg>gGg	p.E566G	ATP9B_ENST00000307671.7_Missense_Mutation_p.E566G	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	566					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCGTTACTGAGGAGACTGAG	0.542000													13	88					0	0	0.00244969	0	0
HMP19	51617	broad.mit.edu	37	5	173491276	173491276	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:173491276G>C	ENST00000303177.3	+	3	433	c.171G>C	c.(169-171)aaG>aaC	p.K57N	NSG2_ENST00000521585.1_Missense_Mutation_p.K57N|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1																					CGGAACAGAAGAACAAAGGGA	0.448000													8	64					0	0	0.000157383	0	0
ZNF536	9745	broad.mit.edu	37	19	30935657	30935657	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:30935657C>T	ENST00000355537.3	+	2	1335	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGTCCACCTCAACAAGCTGT	0.607000													16	50					0	0	0.000422831	0	0
PURG	29942	broad.mit.edu	37	8	30889612	30889612	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:30889612C>T	ENST00000475541.1	-	1	1619	c.687G>A	c.(685-687)atG>atA	p.M229I	PURG_ENST00000339382.2_Missense_Mutation_p.M229I	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	229						nucleus	DNA binding	p.M229I(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GAAACTCAATCATTCCTTGTG	0.488000													13	103					0	0	0.000308642	0	0
MTA2	9219	broad.mit.edu	37	11	62365529	62365529	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:62365529A>G	ENST00000278823.2	-	6	846	c.457T>C	c.(457-459)Tac>Cac	p.Y153H	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	153	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCAGCTTGGTATTTGCAACCA	0.478000													30	150					0	0	0.00178596	0	0
FGF23	8074	broad.mit.edu	37	12	4479895	4479895	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:4479895A>G	ENST00000237837.1	-	3	515	c.370T>C	c.(370-372)Tac>Cac	p.Y124H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	124					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGACGTCGTACCCGTTTTCC	0.597000													11	107					0	0	0.00185496	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313585	233313585	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:233313585G>A	ENST00000258229.8	-	17	3470	c.3236C>T	c.(3235-3237)gCt>gTt	p.A1079V	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A212V	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1079						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTCAGCAGCTGACTCTGC	0.433000													11	45					0	0	0.000978159	0	0
SECISBP2	79048	broad.mit.edu	37	9	91954794	91954794	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:91954794C>T	ENST00000375807.3	+	9	1299	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	SECISBP2_ENST00000534113.2_Missense_Mutation_p.P342S|SECISBP2_ENST00000339901.4_Missense_Mutation_p.P337S	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	410					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CGAGGAATTTCCCAACCTGGC	0.393000													10	58					0	0	0.00244969	0	0
CRYGN	155051	broad.mit.edu	37	7	151135252	151135252	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:151135252C>T	ENST00000337323.2	-	2	226	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	34	Beta/gamma crystallin 'Greek key' 1.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCATAAAGCCCCGGTCCTGG	0.567000													14	44					0	0	0.00185496	0	0
OR51B4	79339	broad.mit.edu	37	11	5322336	5322336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:5322336G>A	ENST00000380224.1	-	1	890	c.841C>T	c.(841-843)Cct>Tct	p.P281S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGAATGGAGGAAAGAGAAAA	0.428000													5	48					0	0	0.00116845	0	0
ZNF423	23090	broad.mit.edu	37	16	49671261	49671261	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:49671261G>A	ENST00000561648.1	-	4	1855	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V	ZNF423_ENST00000563137.2_Missense_Mutation_p.A541V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A484V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A601V|ZNF423_ENST00000562520.1_Missense_Mutation_p.A541V|ZNF423_ENST00000535559.1_Missense_Mutation_p.A484V|ZNF423_ENST00000562871.1_Missense_Mutation_p.A541V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	601					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTCTGCTCGGCCTTGGACTT	0.572000													7	57					0	0	0.000157383	0	0
CACNA1E	777	broad.mit.edu	37	1	181754883	181754883	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:181754883C>T	ENST00000526775.1	+	42	5822	c.5657C>T	c.(5656-5658)tCa>tTa	p.S1886L	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S1886L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1905L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1512L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S1905L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1856L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1837L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1905					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGGAGCCTTCATCTCTGCCT	0.502000													43	207					0	0	0.000781405	0	0
CER1	9350	broad.mit.edu	37	9	14722166	14722166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:14722166G>A	ENST00000380911.3	-	1	549	c.505C>T	c.(505-507)Cag>Tag	p.Q169*		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	169	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		ACACATACCTGGCTGAAGGGC	0.537000													11	68					0	0	0.00136819	0	0
TENM3	55714	broad.mit.edu	37	4	183600827	183600827	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:183600827C>T	ENST00000511685.1	+	8	1458	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	TENM3_ENST00000406950.2_Silent_p.F445F					teneurin transmembrane protein 3																		AGTATGACTTCGTGGAGCTCC	0.532000													11	74					0	0	0.000978159	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528319	65528319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:65528319C>T	ENST00000310193.3	-	3	952	c.779G>A	c.(778-780)tGg>tAg	p.W260*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	260					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AACTTCTGACCATCCTTGCAT	0.388000													12	82					0	0	0.00185496	0	0
ANPEP	290	broad.mit.edu	37	15	90344822	90344822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:90344822G>A	ENST00000300060.6	-	11	1899	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	529	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GAGTTGGATGGACCGGTTGTT	0.637000													6	38					0	0	0.00198382	0	0
TET2	54790	broad.mit.edu	37	4	106156493	106156493	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:106156493C>T	ENST00000513237.1	+	3	2254	c.1457C>T	c.(1456-1458)cCa>cTa	p.P486L	TET2_ENST00000394764.1_Missense_Mutation_p.P465L|TET2_ENST00000413648.2_Missense_Mutation_p.P465L|TET2_ENST00000380013.4_Missense_Mutation_p.P465L|TET2_ENST00000545826.1_Missense_Mutation_p.P465L|TET2_ENST00000305737.2_Missense_Mutation_p.P465L|TET2_ENST00000540549.1_Missense_Mutation_p.P465L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	465					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTCCTAATCCATCTACACAT	0.453000			"""Mis N, F"""		MDS								10	53					0	0	0.000673444	0	0
MEP1B	4225	broad.mit.edu	37	18	29795045	29795045	+	Splice_Site	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:29795045A>G	ENST00000269202.6	+	12	1627	c.1579_splice	c.e12-1	p.D527_splice	MEP1B_ENST00000581447.1_Splice_Site_p.D527_splice	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	527	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCTTTTTCAGATAATGGAAAC	0.408000													13	110					0	0	0.000308642	0	0
SETD1A	9739	broad.mit.edu	37	16	30976345	30976345	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:30976345C>T	ENST00000262519.8	+	7	1968	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	428	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTACCGGCCTCCTGCCTCAGA	0.662000													7	48					0	0	0.000274275	0	0
OR4S2	219431	broad.mit.edu	37	11	55419207	55419207	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:55419207C>T	ENST00000312422.2	+	1	828	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	276					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)				ACACCATTATCACTCCCATGT	0.408000													7	56					0	0	0.000157383	0	0
CACNG3	10368	broad.mit.edu	37	16	24373082	24373082	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:24373082C>T	ENST00000005284.3	+	4	2048	c.846C>T	c.(844-846)tcC>tcT	p.S282S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	282					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S282S(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCCTCAACTCCGACCGGGACC	0.552000													17	83					0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179536776	179536776	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:179536776C>T	ENST00000589042.1	-	155	35373	c.35149G>A	c.(35149-35151)Gaa>Aaa	p.E11717K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10416K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11343K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11584	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)			TGAACTTTTTCAACTCTGTGT	0.338000													6	63					0	0	0.00198382	0	0
HERC2P3	283755	broad.mit.edu	37	15	20658892	20658892	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:20658892G>A	ENST00000428453.1	-	0	1974																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATTCCCTCAGGAATAAGTCTT	0.363000													17	51					0	0	0.00229938	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612200	16612200	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:16612200G>A	ENST00000443444.2	+	5	969	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E276K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E277K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E277K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E277K			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	277																	AAAATCTGAGGAAATGTGGAT	0.358000													7	67					0	0	0.00136819	0	0
NACA	4666	broad.mit.edu	37	12	57111344	57111344	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:57111344G>A	ENST00000454682.1	-	3	4251	c.3970C>T	c.(3970-3972)Cca>Tca	p.P1324S	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTACCTGGGCTTCCTTTT	0.622000			T	BCL6	NHL								15	61					0	0	0.000566183	0	0
CTSW	1521	broad.mit.edu	37	11	65649961	65649961	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:65649961A>G	ENST00000528419.1	+	5	506	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	CTSW_ENST00000307886.3_Missense_Mutation_p.I168V			P56202	CATW_HUMAN	cathepsin W	168					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCTGTGGCGCATCAGTTTCTG	0.637000													9	60					0	0	0.000274275	0	0
DVL1	1855	broad.mit.edu	37	1	1275673	1275673	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:1275673G>A	ENST00000378888.5	-	7	1007	c.723C>T	c.(721-723)acC>acT	p.T241T	DVL1_ENST00000378891.5_Silent_p.T241T			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	241					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGTGGAGTCGGTTATGCTGC	0.662000													10	61					0	0	0.000673444	0	0
SIRPB1	10326	broad.mit.edu	37	20	1546882	1546882	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:1546882G>A	ENST00000381605.4	-	5	1180	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	SIRPB1_ENST00000381603.3_Silent_p.L155L|SIRPB1_ENST00000262929.5_Silent_p.L154L|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	372					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGAGAGCTACGAGGAGTGGAG	0.587000													10	20					0	0	0.000978159	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880737	105880737	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:105880737G>A	ENST00000301919.4	-	3	1978	c.563C>T	c.(562-564)aCc>aTc	p.T188I		NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	188						nucleus											TGAGTTAAGGGTAAAAAACTC	0.398000													14	84					0	0	0.000308642	0	0
DDB1	1642	broad.mit.edu	37	11	61079489	61079489	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:61079489G>A	ENST00000301764.7	-	17	2534	c.2137C>T	c.(2137-2139)Cgc>Tgc	p.R713C	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	713	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGAACTGTGCGAATGTGCAGC	0.552000								Nucleotide excision repair (NER)					27	149					0	0	0.000878237	0	0
ABCA12	26154	broad.mit.edu	37	2	215831615	215831615	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:215831615G>A	ENST00000272895.7	-	39	6060	c.5841C>T	c.(5839-5841)ttC>ttT	p.F1947F	ABCA12_ENST00000389661.4_Silent_p.F1629F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1947					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCGCAGAAGGAAATTATTCA	0.383000													5	41					0	0	0.00116845	0	0
CCDC146	57639	broad.mit.edu	37	7	76922443	76922443	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:76922443G>A	ENST00000285871.4	+	18	2717	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E578K	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	864										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACTCAATAAGGAAATTGAGAA	0.433000													13	98					0	0	0.00136819	0	0
MBTPS1	8720	broad.mit.edu	37	16	84129350	84129350	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:84129350G>A	ENST00000343411.3	-	4	977	c.482C>T	c.(481-483)cCc>cTc	p.P161L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	161					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTTCGCAGGGGACGTGATGA	0.592000													8	110					0	0	0.000673444	0	0
ZNF208	7757	broad.mit.edu	37	19	22155111	22155111	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:22155111C>T	ENST00000397126.4	-	4	2873	c.2725G>A	c.(2725-2727)Gta>Ata	p.V909I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTATGAATTACCTCATGTTTA	0.373000													4	14					0	0	0.00116845	0	0
LRP1B	53353	broad.mit.edu	37	2	141533714	141533714	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:141533714G>A	ENST00000389484.3	-	33	6424	c.5453C>T	c.(5452-5454)aCt>aTt	p.T1818I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1818					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCCCAGAAGTCTTATTCCG	0.423000										TSP Lung(27;0.18)			15	61					0	0	0.000422831	0	0
PSG8	440533	broad.mit.edu	37	19	43259363	43259363	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:43259363C>T	ENST00000404209.4	-	4	861	c.765G>A	c.(763-765)aaG>aaA	p.K255K	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Silent_p.K133K|PSG8_ENST00000401467.2_Silent_p.K162K|PSG8_ENST00000306511.4_Silent_p.K255K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	255	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTAAGACATCCTTATTCTCCC	0.483000													27	224					0	0	0.00209593	0	0
RXFP1	59350	broad.mit.edu	37	4	159526268	159526268	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:159526268G>A	ENST00000307765.5	+	5	692	c.441G>A	c.(439-441)aaG>aaA	p.K147K	RXFP1_ENST00000448688.2_Silent_p.K66K|RXFP1_ENST00000470033.1_Silent_p.K114K|RXFP1_ENST00000423548.1_Silent_p.K147K|RXFP1_ENST00000343542.5_Silent_p.K147K|RXFP1_ENST00000460056.2_Silent_p.K66K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	147						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTGCTTCAAGAATTATCATG	0.303000													8	31					0	0	0.000274275	0	0
GRAP2	9402	broad.mit.edu	37	22	40356158	40356158	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:40356158G>A	ENST00000399090.2	+	2	317	c.100G>A	c.(100-102)Gga>Aga	p.G34R	GRAP2_ENST00000344138.4_Silent_p.G90G|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000544756.1_Silent_p.G18G|GRAP2_ENST00000407075.3_Silent_p.G90G|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000543252.1_Intron			O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	235	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCTCCCCAGGGGACTTCTCCA	0.557000													27	160					0	0	0.00127121	0	0
STIL	6491	broad.mit.edu	37	1	47746080	47746080	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:47746080G>A	ENST00000360380.3	-	13	2413	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S	STIL_ENST00000371877.3_Missense_Mutation_p.P684S|STIL_ENST00000396221.2_Missense_Mutation_p.P684S|STIL_ENST00000337817.5_Missense_Mutation_p.P684S|STIL_ENST00000243182.6_Missense_Mutation_p.P684S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	684	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTTGCCACAGGCGATGGTTCA	0.483000													22	125					0	0	0.00278032	0	0
PSG2	5670	broad.mit.edu	37	19	43585170	43585170	+	Missense_Mutation	SNP	C	C	T	rs150218743		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:43585170C>T	ENST00000406487.1	-	2	391	c.293G>A	c.(292-294)cGa>cAa	p.R98Q		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	98	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGCTGTTTCTCGTCCACTATA	0.448000													46	275					0	0	0.000781405	0	0
PAGE2B	389860	broad.mit.edu	37	X	55102477	55102477	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:55102477G>A	ENST00000374971.1	+	2	55	c.3G>A	c.(1-3)atG>atA	p.M1I	PAGE2B_ENST00000374974.3_Start_Codon_SNP_p.M1I	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	1										lung(3)	3						TGGGAAATATGAGTGAGCATG	0.358000													9	17					0	0	0.000442599	0	0
MPP6	51678	broad.mit.edu	37	7	24708173	24708173	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:24708173C>G	ENST00000396475.2	+	10	1307	c.1008C>G	c.(1006-1008)ttC>ttG	p.F336L	MPP6_ENST00000409761.1_Missense_Mutation_p.F224L|MPP6_ENST00000222644.4_Missense_Mutation_p.F336L	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	336					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGCCTCCCTTCCAGAGAAAAA	0.373000													7	30					0	0	0.000157383	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885087	88885087	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:88885087G>A	ENST00000319675.3	-	1	1209	c.1113C>T	c.(1111-1113)cgC>cgT	p.R371R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	371										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGCCCCCGAGGCGAGAAGAGA	0.592000													4	52					0	0	0.000602214	0	0
SPATC1	375686	broad.mit.edu	37	8	145096226	145096226	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:145096226G>A	ENST00000377470.3	+	4	1502	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	467										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGCGCGTACGGCTCTACGGC	0.637000													4	42					0	0	0.00024832	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029697	13029697	+	Silent	SNP	C	C	T	rs151327623		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:13029697C>T	ENST00000399002.2	+	2	496	c.222C>T	c.(220-222)acC>acT	p.T74T	SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Silent_p.T74T	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	74					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GAATTGGAACCCTGTTTGGCT	0.408000													33	79					0	0	0.0024448	0	0
VPS41	27072	broad.mit.edu	37	7	38783015	38783015	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:38783015G>A	ENST00000310301.4	-	24	2163	c.2109C>T	c.(2107-2109)tcC>tcT	p.S703S	VPS41_ENST00000395969.2_Silent_p.S678S	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	703					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTTTGTCAATGGAATATAAAA	0.338000													6	15					0	0	0.00198382	0	0
MTOR	2475	broad.mit.edu	37	1	11307752	11307752	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:11307752G>A	ENST00000361445.4	-	8	1231	c.1155C>T	c.(1153-1155)aaC>aaT	p.N385N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	385					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGATCAGCGAGTTCTTGCTAT	0.498000													13	69					0	0	0.000308642	0	0
SLC4A4	8671	broad.mit.edu	37	4	72412140	72412140	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:72412140C>T	ENST00000340595.3	+	16	2580	c.2384C>T	c.(2383-2385)cCg>cTg	p.P795L	SLC4A4_ENST00000264485.5_Missense_Mutation_p.P839L|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P839L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	839						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATGGCTCTTCCGTGGTATGTA	0.463000													3	9					0	0	0.00024832	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197966	142197966	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142197966C>T	ENST00000471935.1	-	0	103																											TCACCTGCTCCCAGGAGACAG	0.502000													9	85					0	0	0.000442599	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226002	79226002	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:79226002G>A	ENST00000374759.3	-	13	2321	c.1938C>T	c.(1936-1938)agC>agT	p.S646S	SLC38A10_ENST00000288439.5_Silent_p.S646S	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	646					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCGTGGTCGCTGTCCTCTG	0.697000													28	109					0	0	0.00106085	0	0
PIM1	5292	broad.mit.edu	37	6	37140845	37140845	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:37140845C>T	ENST00000373509.5	+	5	1054	c.681C>T	c.(679-681)tcC>tcT	p.S227S	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	318	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGTCTGGTCCCTGGGGATCC	0.542000			T	BCL6	NHL								19	55					0	0	0.00121646	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19216516	19216516	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:19216516G>A	ENST00000375341.3	-	2	403	c.146C>T	c.(145-147)gCc>gTc	p.A49V	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_5'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.A49V|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.A49V	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	49					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CTTTTGCAGGGCATCTCGCTC	0.652000													4	18					0	0	0.000602214	0	0
CRB1	23418	broad.mit.edu	37	1	197396679	197396679	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:197396679T>C	ENST00000367397.1	+	3	1225	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	CRB1_ENST00000367400.3_Missense_Mutation_p.F742L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L|CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000367399.2_Missense_Mutation_p.F630L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	742	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTCTCCATGTTTGTCCGAAC	0.473000													4	32					0	0	0.00024832	0	0
FCRLA	84824	broad.mit.edu	37	1	161681929	161681929	+	Silent	SNP	C	C	T	rs147507735		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:161681929C>T	ENST00000540926.1	+	5	1016	c.723C>T	c.(721-723)tcC>tcT	p.S241S	FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Silent_p.S146S|FCRLA_ENST00000294796.4_Silent_p.S101S|FCRLA_ENST00000236938.6_Silent_p.S252S|FCRLA_ENST00000546024.1_Silent_p.S163S|FCRLA_ENST00000540521.1_Silent_p.S118S|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Silent_p.S241S|FCRLA_ENST00000367957.2_Silent_p.S112S|FCRLA_ENST00000367959.2_Silent_p.S258S|FCRLA_ENST00000349527.4_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	235	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region		p.S235S(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AAGATCACTCCGGGTCATACT	0.547000													12	67					0	0	0.00185496	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529203	24529203	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:24529203C>T	ENST00000342740.5	+	23	2047	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	631										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCTTCATGTCCTTCCCCGTGA	0.647000													14	96					0	0	0.000308642	0	0
PTGER3	5733	broad.mit.edu	37	1	71418638	71418638	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:71418638C>T	ENST00000356595.4	-	4	1419	c.1209G>A	c.(1207-1209)gtG>gtA	p.V403V	PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TAATGCTGCTCACGAGTACCT	0.423000													7	68					0	0	0.000157383	0	0
ALMS1	7840	broad.mit.edu	37	2	73717795	73717795	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:73717795C>T	ENST00000264448.6	+	10	8817	c.8706C>T	c.(8704-8706)caC>caT	p.H2902H	ALMS1_ENST00000409009.1_Silent_p.H2860H	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2902					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGAGGAAACACCATTCTCCCT	0.433000													30	105					0	0	0.00178596	0	0
GEMIN4	50628	broad.mit.edu	37	17	648241	648241	+	Silent	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:648241A>G	ENST00000576778.1	-	1	4350	c.3009T>C	c.(3007-3009)acT>acC	p.T1003T	GEMIN4_ENST00000319004.5_Silent_p.T1014T			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	1014					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCTTGCTCAAAGTCTCATAGC	0.557000													3	38					0	0	6.4e-05	0	0
KLF6	1316	broad.mit.edu	37	10	3821774	3821774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:3821774G>A	ENST00000497571.1	-	4	1069	c.809C>T	c.(808-810)tCc>tTc	p.S270F	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Missense_Mutation_p.P229S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	270					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GTCAGACCTGGAAAAACACCT	0.587000													6	35					0	0	0.000157383	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703213	156703213	+	Silent	SNP	G	G	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:156703213G>T	ENST00000368216.4	+	5	1167	c.537G>T	c.(535-537)gtG>gtT	p.V179V	RRNAD1_ENST00000476229.1_Silent_p.V56V|RRNAD1_ENST00000368218.4_Silent_p.V179V	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	179						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGTTGATGGTGAAGAGCATCG	0.592000													20	128					1.10513e-12	4.36665e-12	0.00229938	1	0
ZNF318	24149	broad.mit.edu	37	6	43323410	43323410	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:43323410G>A	ENST00000361428.2	-	4	1739	c.1662C>T	c.(1660-1662)ccC>ccT	p.P554P	ZNF318_ENST00000318149.3_Silent_p.P554P	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	554					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGCTCCCAAGGGGCTTTGGTA	0.478000													33	179					0	0	0.0024448	0	0
NPAP1	23742	broad.mit.edu	37	15	24922217	24922217	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:24922217C>T	ENST00000329468.2	+	1	1677	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCCCTTCTTTCTCCCAACCTG	0.532000													14	38					0	0	0.000308642	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232629380	232629380	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:232629380C>T	ENST00000366630.1	-	3	1868	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E504K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	504					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCAAGGTTTTCATCTATTCCA	0.448000													52	228					0	0	0.000781405	0	0
GJD2	57369	broad.mit.edu	37	15	35045113	35045113	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:35045113G>A	ENST00000290374.4	-	2	1008	c.532C>T	c.(532-534)Cca>Tca	p.P178S		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	178					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGACCTGATGGGTGTGGAGTC	0.483000													27	130					0	0	0.000878237	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431762	26431762	+	RNA	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:26431762T>C	ENST00000466808.2	+	0	1710																											GCTTTAGTAGTTCCTTTGGTT	0.502000													16	133					0	0	0.00074312	0	0
FUT11	170384	broad.mit.edu	37	10	75535399	75535399	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:75535399T>C	ENST00000372841.3	+	3	1478	c.1435T>C	c.(1435-1437)Tgg>Cgg	p.W479R		NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	479					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GACGAAATTTTGGGATTACCT	0.453000													9	71					0	0	0.000673444	0	0
CROCC	9696	broad.mit.edu	37	1	17263330	17263330	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:17263330G>A	ENST00000375541.5	+	9	1224	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	385					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCAGCAGCAGATGCAAAGCG	0.647000													6	68					0	0	0.00198382	0	0
DPP6	1804	broad.mit.edu	37	7	154379743	154379743	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:154379743G>A	ENST00000406326.1	+	6	1414	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCACCCCGGGGATAATGCACA	0.597000													14	105					0	0	0.00244969	0	0
TC2N	123036	broad.mit.edu	37	14	92249508	92249508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:92249508C>T	ENST00000435962.2	-	12	1732	c.1409G>A	c.(1408-1410)tGg>tAg	p.W470*	TC2N_ENST00000556018.1_Nonsense_Mutation_p.W406*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.W470*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.W470*	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	470						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TGTCTCTTTCCACTGGTTCAC	0.323000													7	78					0	0	0.000274275	0	0
COL14A1	7373	broad.mit.edu	37	8	121238994	121238994	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:121238994A>G	ENST00000297848.3	+	16	2263	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E	COL14A1_ENST00000309791.4_Missense_Mutation_p.K665E|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.K570E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	665	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTATGGGGGGAAGACTGAGGA	0.433000													5	46					0	0	0.00116845	0	0
MRPL14	64928	broad.mit.edu	37	6	44081941	44081941	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:44081941G>A	ENST00000372014.3	-	3	208	c.77C>T	c.(76-78)aCt>aTt	p.T26I		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	26					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CAGACTCCCAGTGGTGCTGGT	0.542000													15	161					0	0	0.000422831	0	0
NRXN3	9369	broad.mit.edu	37	14	79175877	79175877	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:79175877C>T	ENST00000554719.1	+	4	911	c.420C>T	c.(418-420)ctC>ctT	p.L140L	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.L140L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	144	Laminin G-like.				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)		TGGAACTCCTCGATGGCAACC	0.502000													12	91					0	0	0.00136819	0	0
SEC31B	25956	broad.mit.edu	37	10	102249894	102249894	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:102249894C>T	ENST00000370345.3	-	21	2933	c.2836G>A	c.(2836-2838)Ggt>Agt	p.G946S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	946	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CGGCCGGGACCTAGTGGTCTC	0.627000													18	62					0	0	0.00229938	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077190	57077190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:57077190C>A	ENST00000532437.1	-	5	3306	c.2995G>T	c.(2995-2997)Gag>Tag	p.E999*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E999*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	999	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCTTCTTCTCAAATTCCTCA	0.592000													10	44					7.48243e-07	2.94314e-06	0.000442599	1	0
ZC3H13	23091	broad.mit.edu	37	13	46559573	46559573	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:46559573G>A	ENST00000242848.4	-	10	1927	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R527W			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	527	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCATAACTCCGGGATTCTTCT	0.453000													10	66					0	0	0.000673444	0	0
TLL1	7092	broad.mit.edu	37	4	166929121	166929121	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:166929121G>A	ENST00000061240.2	+	7	1485	c.838G>A	c.(838-840)Gag>Aag	p.E280K	TLL1_ENST00000507499.1_Missense_Mutation_p.E280K|TLL1_ENST00000513213.1_Missense_Mutation_p.E280K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	280	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGAAGATGGAGCCTGGAGA	0.413000													3	13					0	0	6.4e-05	0	0
KMO	8564	broad.mit.edu	37	1	241753362	241753362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:241753362G>A	ENST00000366559.4	+	13	1458	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	KMO_ENST00000366557.4_Intron|KMO_ENST00000366558.3_Missense_Mutation_p.E370K	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	383					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GAAGAACATGGAGAGATTTCT	0.378000													8	76					0	0	0.000442599	0	0
ROR2	4920	broad.mit.edu	37	9	94486934	94486934	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:94486934C>T	ENST00000375708.3	-	9	2040	c.1842G>A	c.(1840-1842)aaG>aaA	p.K614K	ROR2_ENST00000375715.1_Silent_p.K474K|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	614	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGCCAGGTCCTTGTGAACCA	0.597000													21	88					0	0	0.00229938	0	0
GAREM	64762	broad.mit.edu	37	18	29867077	29867077	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:29867077G>A	ENST00000399218.4	-	4	1538	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	GAREM_ENST00000269209.6_Missense_Mutation_p.P495S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CCAGGGATGGGAAGAGGAGAA	0.522000													23	109					0	0	0.00229938	0	0
OR13D1	286365	broad.mit.edu	37	9	107457503	107457503	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:107457503G>A	ENST00000318763.5	+	1	844	c.801G>A	c.(799-801)aaG>aaA	p.K267K		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						AGGGAAGAAAGAAAGCCTTCT	0.378000													15	81					0	0	0.00244969	0	0
SORL1	6653	broad.mit.edu	37	11	121491883	121491883	+	Silent	SNP	G	G	A	rs3134566		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:121491883G>A	ENST00000260197.7	+	44	6129	c.6000G>A	c.(5998-6000)ggG>ggA	p.G2000G	SORL1_ENST00000532694.1_Silent_p.G846G|SORL1_ENST00000534286.1_Silent_p.G910G|SORL1_ENST00000525532.1_Silent_p.G944G|SORL1_ENST00000527934.1_Silent_p.G615G	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2000	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGCCTGGCGGGAAATACCACA	0.443000													11	75					0	0	0.000673444	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299167	125299167	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:125299167C>T	ENST00000538699.1	-	2	821	c.741G>A	c.(739-741)ccG>ccA	p.P247P	DCAF12L2_ENST00000360028.2_Silent_p.P247P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	247										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCACATCCCTCGGACGGATGT	0.637000													11	20					0	0	0.000673444	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800850	185800850	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:185800850G>A	ENST00000302277.6	+	4	1321	c.727G>A	c.(727-729)Gga>Aga	p.G243R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	243						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCCTCAGTGGGAAAAGGATT	0.423000													10	52					0	0	0.000673444	0	0
STPG2	285555	broad.mit.edu	37	4	98633937	98633937	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:98633937C>T	ENST00000295268.3	-	10	1322	c.1233G>A	c.(1231-1233)agG>agA	p.R411R	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		GGCAAGATTTCCTTAAAACAG	0.338000													6	41					0	0	0.00198382	0	0
SNAPC5	10302	broad.mit.edu	37	15	66786865	66786865	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:66786865G>A	ENST00000316634.5	-	3	287	c.206C>T	c.(205-207)gCa>gTa	p.A69V	SNAPC5_ENST00000395589.2_Missense_Mutation_p.A69V|SNAPC5_ENST00000563480.2_Missense_Mutation_p.A69V|SNAPC5_ENST00000307979.7_Missense_Mutation_p.A39V|SNAPC5_ENST00000566658.1_3'UTR			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	69					transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)	2						GTTGATTGATGCTTCATTGTC	0.453000													17	111					0	0	0.00152264	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297436	28297436	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:28297436C>T	ENST00000414429.1	-	6	928	c.25G>A	c.(25-27)Gat>Aat	p.D9N	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.D9N|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.D9N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.D9N					zinc finger and SCAN domain containing 31									p.D9N(1)									ATCTTAAGATCGTACTGTTCC	0.418000													12	83					0	0	0.000978159	0	0
C2orf71	388939	broad.mit.edu	37	2	29296579	29296579	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:29296579G>A	ENST00000331664.5	-	1	548	c.549C>T	c.(547-549)gcC>gcT	p.A183A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	183					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTGCTGGTGGGCCTTTACCA	0.552000													16	82					0	0	0.000308642	0	0
OR6V1	346517	broad.mit.edu	37	7	142749462	142749462	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142749462G>A	ENST00000418316.1	+	1	46	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCAGCCCTCCGAATTTGTCCT	0.517000													57	140					0	0	0.000781405	0	0
PSG9	5678	broad.mit.edu	37	19	43762547	43762547	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:43762547G>A	ENST00000244293.7	-	4	837	c.771C>T	c.(769-771)ctC>ctT	p.L257L	PSG9_ENST00000270077.3_Silent_p.L350L|PSG9_ENST00000291752.5_Silent_p.L164L|PSG9_ENST00000418820.2_Silent_p.L257L|PSG9_ENST00000443718.3_Silent_p.L257L|PSG9_ENST00000596730.1_Silent_p.L164L|PSG9_ENST00000593948.1_Silent_p.L257L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	255	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGACAAGTCGAGGTTTTCTC	0.453000													31	216					0	0	0.00178596	0	0
OR6K2	81448	broad.mit.edu	37	1	158670427	158670427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158670427G>A	ENST00000359610.2	-	1	59	c.16C>T	c.(16-18)Cga>Tga	p.R6*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	6			R -> Q (in dbSNP:rs413029).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGGTGGTTCGATTGGGGCTC	0.428000													6	63					0	0	0.00198382	0	0
DENND5A	23258	broad.mit.edu	37	11	9225822	9225822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:9225822G>A	ENST00000328194.3	-	4	654	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	DENND5A_ENST00000530044.1_Missense_Mutation_p.P112S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	112	UDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTCCCTGGGATCAGCCTGG	0.498000													10	61					0	0	0.000673444	0	0
SUPT16H	11198	broad.mit.edu	37	14	21836516	21836516	+	Silent	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:21836516A>T	ENST00000216297.2	-	7	1205	c.867T>A	c.(865-867)acT>acA	p.T289T		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	289					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAACCATCAAAGTGCGAACAA	0.428000													7	51					0	0	0.00198382	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393608	145393608	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:145393608C>T	ENST00000511217.1	+	4	1095	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	SH3RF2_ENST00000359120.4_Missense_Mutation_p.S348F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	348							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGTTCCTTCCAGCTGTGTG	0.527000													7	61					0	0	0.000157383	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188403	70188403	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:70188403C>T	ENST00000320256.4	-	1	994	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	140					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CTGAGGGACTCTTTCAGGAAC	0.542000													8	33					0	0	0.000274275	0	0
NLRC4	58484	broad.mit.edu	37	2	32476427	32476427	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:32476427C>T	ENST00000404025.2	-	5	994	c.506G>A	c.(505-507)gGg>gAg	p.G169E	NLRC4_ENST00000402280.1_Missense_Mutation_p.G169E|NLRC4_ENST00000360906.5_Missense_Mutation_p.G169E|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	169	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCCAGATTCCCCTTCAATGAT	0.562000													6	60					0	0	0.00116845	0	0
TRAV27	28655	broad.mit.edu	37	14	22616402	22616402	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:22616402C>T	ENST00000390457.2	+	0	240																											AGTGTTTTTTCCAGCTTACAA	0.507000													12	15					0	0	0.00185496	0	0
ST18	9705	broad.mit.edu	37	8	53049985	53049985	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:53049985G>A	ENST00000276480.7	-	18	2910	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	743						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGTACCTGCGATGAGATGCA	0.413000													6	34					0	0	0.00116845	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214953	140214953	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140214953C>T	ENST00000525929.1	+	1	985	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P329S	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTTCCCACCCCTGGCTGG	0.483000													11	90					0	0	0.00136819	0	0
OVCH1	341350	broad.mit.edu	37	12	29630484	29630484	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:29630484C>T	ENST00000318184.5	-	10	1096	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	366	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTTTTGTTTTCCATCGTCTTC	0.358000													4	28					0	0	0.00024832	0	0
ESPNL	339768	broad.mit.edu	37	2	239009110	239009110	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:239009110C>T	ENST00000343063.3	+	1	313	c.50C>T	c.(49-51)aCg>aTg	p.T17M	ESPNL_ENST00000409169.1_Missense_Mutation_p.T17M	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	17										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GATGTGGCGACGTTGGAGCGG	0.711000													6	22					0	0	0.00198382	0	0
DCLK1	9201	broad.mit.edu	37	13	36401880	36401880	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:36401880G>A	ENST00000255448.4	-	10	1510	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	DCLK1_ENST00000360631.3_Silent_p.I433I|DCLK1_ENST00000379893.1_Silent_p.I126I	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	433	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTCATTCTGGATCATGTGCT	0.393000													12	65					0	0	0.000422831	0	0
RGPD3	653489	broad.mit.edu	37	2	107040937	107040937	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:107040937C>T	ENST00000409886.3	-	20	3573	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q	RGPD3_ENST00000304514.7_Silent_p.Q1162Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1162	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTCAAATTTCTGCTTGAATT	0.448000													18	94					0	0	0.00074312	0	0
GPR98	84059	broad.mit.edu	37	5	89925145	89925145	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:89925145G>A	ENST00000405460.2	+	9	1724	c.1628G>A	c.(1627-1629)aGa>aAa	p.R543K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	543					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTTTTACAAGACTAGGAGGG	0.408000													5	22					0	0	0.000602214	0	0
PSG3	5671	broad.mit.edu	37	19	43233329	43233329	+	Missense_Mutation	SNP	G	G	A	rs149820484	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:43233329G>A	ENST00000327495.5	-	5	1373	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG3_ENST00000595140.1_Missense_Mutation_p.R397C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	397	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.R397C(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.448000													25	228					0	0	0.000586117	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718278	103718278	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:103718278C>T	ENST00000245312.3	-	1	918	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	108					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCAGTTCCTCCAGGGCAGCAT	0.507000													11	67					0	0	0.000978159	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73148985	73148985	+	Silent	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:73148985T>G	ENST00000286657.4	-	22	3522	c.3486A>C	c.(3484-3486)tcA>tcC	p.S1162S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1162					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGCCATTTGTGAAGCTGAAC	0.502000													21	118					0	0	0.00229938	0	0
APOB	338	broad.mit.edu	37	2	21231540	21231540	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:21231540G>A	ENST00000233242.1	-	26	8327	c.8200C>T	c.(8200-8202)Cct>Tct	p.P2734S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2734				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.P2734S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAAGGTCAGGAACTTGAAAA	0.418000													45	319					0	0	0.00222228	0	0
UTP20	27340	broad.mit.edu	37	12	101755810	101755810	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:101755810T>C	ENST00000261637.4	+	44	5936	c.5762T>C	c.(5761-5763)tTg>tCg	p.L1921S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1921					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTCGGAGATTTGGACTCTTGT	0.398000													24	148					0	0	0.00047179	0	0
USH2A	7399	broad.mit.edu	37	1	215963483	215963483	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:215963483C>T	ENST00000366943.2	-	51	10486	c.10100G>A	c.(10099-10101)aGc>aAc	p.S3367N	USH2A_ENST00000307340.3_Missense_Mutation_p.S3367N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3367					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)		GCATTTCTGGCTCTTTGGAAT	0.383000										HNSCC(13;0.011)			7	32					0	0	0.000157383	0	0
KCNH5	27133	broad.mit.edu	37	14	63175027	63175027	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:63175027C>T	ENST00000322893.7	-	11	2434	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	722					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTGTTGAGCCCTGATTCCGCA	0.572000													14	110					0	0	0.00185496	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180721	19180721	+	Missense_Mutation	SNP	C	C	T	rs35605435		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:19180721C>T	ENST00000375371.3	-	3	1264	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	415					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGGGGTAGACCACCCTCTTG	0.617000													8	27					0	0	0.000274275	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107210	120107210	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:120107210C>T	ENST00000307128.5	+	6	863	c.650C>T	c.(649-651)cCc>cTc	p.P217L		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	217							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTAACAGATCCCAGGTTTATG	0.398000													11	62					0	0	0.000673444	0	0
TBR1	10716	broad.mit.edu	37	2	162273044	162273044	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:162273044G>A	ENST00000389554.3	+	1	440	c.123G>A	c.(121-123)tcG>tcA	p.S41S		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	41						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCATTATCTCGACCACTGACA	0.463000													8	46					0	0	0.000274275	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	rs121913377		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	40					0	0	0.0024448	0	0
UGGT1	56886	broad.mit.edu	37	2	128931494	128931494	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:128931494C>T	ENST00000375990.3	+	30	3765	c.3362C>T	c.(3361-3363)aCc>aTc	p.T1121I	UGGT1_ENST00000259253.6_Missense_Mutation_p.T1145I			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1145					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTGTGGACACCATTGTTATG	0.428000													14	56					0	0	0.000566183	0	0
ZNF451	26036	broad.mit.edu	37	6	57015571	57015571	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:57015571T>C	ENST00000370706.4	+	11	2907	c.2663T>C	c.(2662-2664)aTa>aCa	p.I888T	RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Intron|ZNF451_ENST00000491832.2_Missense_Mutation_p.I888T|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGACTCATATAGTCTTTGTA	0.368000													7	122					0	0	0.000157383	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925412	114925412	+	Missense_Mutation	SNP	C	C	T	rs61724286		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:114925412C>T	ENST00000545257.1	+	15	2048	c.1541C>T	c.(1540-1542)cCg>cTg	p.P514L	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P491L|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.P230L|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P497L|TCF7L2_ENST00000369389.1_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P514L|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P497L|TCF7L2_ENST00000369386.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	514					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCCCCCTCCCCGAACCTGCTA	0.602000			T	VTI1A	colorectal								25	168					0	0	0.000878237	0	0
COL4A4	1286	broad.mit.edu	37	2	227945167	227945167	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:227945167C>T	ENST00000396625.3	-	24	2002	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G599R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	599	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACTGGAGGTCCTGGATCCCCT	0.463000													24	111					0	0	0.000586117	0	0
OR51A2	401667	broad.mit.edu	37	11	4976683	4976683	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:4976683G>A	ENST00000380371.1	-	1	260	c.261C>T	c.(259-261)ttC>ttT	p.F87F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGAACAGGAAGATGCTTA	0.463000													8	33					0	0	0.000673444	0	0
MPP7	143098	broad.mit.edu	37	10	28420551	28420551	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:28420551C>T	ENST00000337532.5	-	7	661	c.385G>A	c.(385-387)Gat>Aat	p.D129N	MPP7_ENST00000445954.2_Missense_Mutation_p.D4N|MPP7_ENST00000375732.1_Missense_Mutation_p.D129N|MPP7_ENST00000540098.1_Missense_Mutation_p.D129N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.D129N	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	129					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCGTCAATATCTTCAGGCATA	0.393000													12	72					0	0	0.00136819	0	0
SPOCK3	50859	broad.mit.edu	37	4	167663152	167663152	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:167663152G>A	ENST00000357154.3	-	10	1136	c.999C>T	c.(997-999)ctC>ctT	p.L333L	SPOCK3_ENST00000504953.1_Silent_p.L330L|SPOCK3_ENST00000541637.1_Silent_p.L235L|SPOCK3_ENST00000541354.1_Silent_p.L213L|SPOCK3_ENST00000535728.1_Silent_p.L201L|SPOCK3_ENST00000502330.1_Silent_p.L333L|SPOCK3_ENST00000534949.1_Silent_p.L237L|SPOCK3_ENST00000510741.1_Silent_p.L290L|SPOCK3_ENST00000357545.4_Silent_p.L330L|SPOCK3_ENST00000511269.1_Silent_p.L330L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.L235L|SPOCK3_ENST00000506886.1_Silent_p.L333L|SPOCK3_ENST00000421836.2_Silent_p.L282L|SPOCK3_ENST00000511531.1_Silent_p.L333L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	333	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ACTCACCTAGGAGCTTCTTTA	0.378000													7	79					0	0	0.000442599	0	0
FMN2	56776	broad.mit.edu	37	1	240370979	240370979	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:240370979C>T	ENST00000319653.9	+	5	3097	c.2867C>T	c.(2866-2868)cCg>cTg	p.P956L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1099L(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCTCTT	0.697000													4	21					0	0	0.000602214	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427485	27427485	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:27427485G>A	ENST00000295736.5	-	23	3433	c.3363C>T	c.(3361-3363)ctC>ctT	p.L1121L	SLC4A7_ENST00000445684.1_Silent_p.L1117L|SLC4A7_ENST00000435667.2_Silent_p.L1006L|SLC4A7_ENST00000440156.1_Silent_p.L1117L|SLC4A7_ENST00000388777.4_Silent_p.L671L|SLC4A7_ENST00000455077.1_Silent_p.L1002L|SLC4A7_ENST00000437179.1_Silent_p.L1002L|SLC4A7_ENST00000428386.1_Silent_p.L997L|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Silent_p.L1130L|SLC4A7_ENST00000446700.1_Silent_p.L1113L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1121						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ACAGGTCCATGAGTTTGCGCA	0.343000													28	173					0	0	0.00178596	0	0
SLC35F5	80255	broad.mit.edu	37	2	114501363	114501363	+	Silent	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:114501363A>G	ENST00000245680.2	-	6	902	c.489T>C	c.(487-489)ccT>ccC	p.P163P	SLC35F5_ENST00000409342.1_Silent_p.P157P	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	163					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GCACATACAGAGGTTCACTCT	0.323000													21	119					0	0	0.00278032	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2570400	2570400	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:2570400G>C	ENST00000397195.5	+	5	758	c.307G>C	c.(307-309)Gca>Cca	p.A103P		NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	103	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGAAAAATATGCATTGAGTGG	0.428000													7	47					0	0	0.00198382	0	0
ASTN2	23245	broad.mit.edu	37	9	119249696	119249696	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:119249696G>A	ENST00000313400.4	-	20	3539	c.3439C>T	c.(3439-3441)Cct>Tct	p.P1147S	ASTN2_ENST00000373996.3_Missense_Mutation_p.P1143S|ASTN2_ENST00000288520.5_Missense_Mutation_p.P248S|ASTN2_ENST00000361477.3_Missense_Mutation_p.P199S|ASTN2_ENST00000361209.2_Missense_Mutation_p.P1096S|ASTN2_ENST00000341734.4_Missense_Mutation_p.P199S			O75129	ASTN2_HUMAN	astrotactin 2	1147	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGACTTCAGGGACCTCTCCA	0.507000													7	72					0	0	0.000157383	0	0
PRKAA2	5563	broad.mit.edu	37	1	57159464	57159464	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:57159464G>A	ENST00000371244.4	+	5	568	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	168	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTCAGATGGTGAATTTCTGAG	0.318000													14	115					0	0	0.00244969	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516369	140516369	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140516369C>T	ENST00000231134.5	+	1	1570	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		451					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCCTTCACCCAAACCTCCT	0.602000													20	120					0	0	0.00188189	0	0
ODF4	146852	broad.mit.edu	37	17	8243413	8243413	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:8243413G>A	ENST00000328248.2	+	1	232	c.44G>A	c.(43-45)gGa>gAa	p.G15E	ODF4_ENST00000584943.1_Missense_Mutation_p.G15E	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	15					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						AGGTCAGAAGGAGAAAGAGAC	0.542000													6	57					0	0	0.000274275	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149113	142149113	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142149113C>T	ENST00000390372.3	-	0	164																											CTGTTGGTACCAGGACACACT	0.512000													10	112					0	0	0.00136819	0	0
KCND3	3752	broad.mit.edu	37	1	112524544	112524544	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:112524544G>A	ENST00000369697.1	-	1	874	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	KCND3_ENST00000315987.2_Missense_Mutation_p.P269S|KCND3_ENST00000302127.4_Missense_Mutation_p.P269S			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	269						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGTAGTAGGGCATGATGGCC	0.602000													16	81					0	0	0.000422831	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054066	67054066	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:67054066G>A	ENST00000295568.4	+	3	728	c.597G>A	c.(595-597)caG>caA	p.Q199Q	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.Q225Q|KBTBD8_ENST00000469661.1_3'UTR	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	225	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGCATGAACAGAATGAAAGAG	0.368000													7	43					0	0	0.000157383	0	0
OR4A15	81328	broad.mit.edu	37	11	55135906	55135906	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:55135906C>T	ENST00000314706.3	+	1	547	c.547C>T	c.(547-549)Cac>Tac	p.H183Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGGCTTTCTTCACTCATTGGT	0.428000													9	41					0	0	0.000442599	0	0
LAMA3	3909	broad.mit.edu	37	18	21533014	21533014	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:21533014G>A	ENST00000313654.9	+	74	10038	c.9797G>A	c.(9796-9798)gGa>gAa	p.G3266E	LAMA3_ENST00000269217.6_Missense_Mutation_p.G1657E|LAMA3_ENST00000399516.3_Missense_Mutation_p.G3210E|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1601E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3266	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACACAGCTGGACAGATCCCC	0.522000													15	73					0	0	0.000422831	0	0
PDE6C	5146	broad.mit.edu	37	10	95399917	95399917	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:95399917G>A	ENST00000371447.3	+	12	1711	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	525					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GATTAAATGTGGAATACGACT	0.413000													6	44					0	0	0.00116845	0	0
ZNF536	9745	broad.mit.edu	37	19	30935759	30935759	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:30935759C>T	ENST00000355537.3	+	2	1437	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCCAGGTACCTCTCCTGCC	0.642000													8	39					0	0	0.000274275	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754309	140754309	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140754309C>T	ENST00000517434.1	+	1	659	c.659C>T	c.(658-660)cCt>cTt	p.P220L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGACCCTGTCCGCTCA	0.557000													3	13					0	0	6.4e-05	0	0
OR5B12	390191	broad.mit.edu	37	11	58207275	58207275	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:58207275G>A	ENST00000302572.2	-	1	371	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCGGTCATAGGCCATTGATGC	0.443000													19	66					0	0	0.000958276	0	0
OR10H1	26539	broad.mit.edu	37	19	15918098	15918098	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:15918098G>A	ENST00000334920.2	-	1	838	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CATAGTGCACGACCACCACAG	0.552000													5	37					0	0	0.000442599	0	0
C17orf74	201243	broad.mit.edu	37	17	7330090	7330090	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:7330090C>T	ENST00000333870.3	+	3	854	c.780C>T	c.(778-780)cgC>cgT	p.R260R	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	260						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCTATGGGCGCCACGGTTCCC	0.652000													7	31					0	0	0.000157383	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653538	46653538	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:46653538G>A	ENST00000253255.5	-	1	5681	c.5682C>T	c.(5680-5682)tcC>tcT	p.S1894S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1894					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCTCAGTGTGGAATTAAACC	0.393000													18	141					0	0	0.00074312	0	0
KRT85	3891	broad.mit.edu	37	12	52760942	52760942	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:52760942C>T	ENST00000257901.3	-	1	323	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	83	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCGGAGCGGTAGCCGAA	0.692000													13	70					0	0	0.00185496	0	0
FLNC	2318	broad.mit.edu	37	7	128493032	128493032	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:128493032C>T	ENST00000325888.8	+	37	6416	c.6155C>T	c.(6154-6156)tCc>tTc	p.S2052F	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S2019F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2052					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AAGGGGCTTTCCGAGGGACAC	0.617000													43	93					0	0	0.000781405	0	0
OR6F1	343169	broad.mit.edu	37	1	247876018	247876018	+	Silent	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:247876018A>G	ENST00000302084.2	-	1	87	c.40T>C	c.(40-42)Tta>Cta	p.L14L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	14					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)			AAGCCCAGTAAGAGAAAGTCC	0.458000													12	82					0	0	0.00136819	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213745	42213745	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:42213745G>A	ENST00000221992.6	+	2	325	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	CEA_ENST00000598976.1_Missense_Mutation_p.E71K|CEACAM5_ENST00000405816.1_Missense_Mutation_p.E71K|CEACAM5_ENST00000398599.4_Missense_Mutation_p.E71K	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	71	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GTACAAAGGTGAAAGAGTGGA	0.478000													8	69					0	0	0.000958276	0	0
ZNF521	25925	broad.mit.edu	37	18	22804972	22804972	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:22804972G>A	ENST00000361524.3	-	4	3058	c.2910C>T	c.(2908-2910)tcC>tcT	p.S970S	ZNF521_ENST00000538137.2_Silent_p.S970S|ZNF521_ENST00000584787.1_Silent_p.S750S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	970					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTTAAAAGGGAGGGAAACC	0.483000			T	PAX5	ALL								16	61					0	0	0.000422831	0	0
MDH1B	130752	broad.mit.edu	37	2	207620056	207620056	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:207620056G>A	ENST00000374412.3	-	5	862	c.587C>T	c.(586-588)tCc>tTc	p.S196F	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.S98F|MDH1B_ENST00000454776.2_Missense_Mutation_p.S196F	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	196					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CGTGCAGATGGAGACACTGCG	0.552000													8	48					0	0	0.000442599	0	0
MUC17	140453	broad.mit.edu	37	7	100685591	100685591	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:100685591G>A	ENST00000306151.4	+	3	10958	c.10894G>A	c.(10894-10896)Gaa>Aaa	p.E3632K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3632	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGTAAGCAC	0.488000													12	99					0	0	0.00136819	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95614188	95614188	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:95614188C>T	ENST00000324972.6	+	8	886	c.693C>T	c.(691-693)ctC>ctT	p.L231L	DYNC1I1_ENST00000457059.1_Silent_p.L214L|DYNC1I1_ENST00000537881.1_Silent_p.L194L|DYNC1I1_ENST00000447467.2_Silent_p.L214L|DYNC1I1_ENST00000359388.4_Silent_p.L194L|DYNC1I1_ENST00000437599.1_Silent_p.L211L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	231					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGGAATTTCTCATCTTTTTTG	0.398000													6	61					0	0	0.00116845	0	0
FAM173B	134145	broad.mit.edu	37	5	10239295	10239295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:10239295G>A	ENST00000511437.1	-	2	202	c.190C>T	c.(190-192)Cga>Tga	p.R64*	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.R64*|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	64						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAGACTTTTCGAAGGGCTGGC	0.507000													18	93					0	0	0.00278032	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248760	140248760	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140248760G>T	ENST00000398640.2	+	1	72	c.72G>T	c.(70-72)tgG>tgT	p.W24C	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAATTCTGGGAGGTGGGGA	0.602000													20	108					2.39556e-15	9.48698e-15	0.00278032	1	0
KAT6A	7994	broad.mit.edu	37	8	41812837	41812837	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:41812837G>A	ENST00000396930.3	-	10	2118	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	KAT6A_ENST00000406337.1_Silent_p.S525S|KAT6A_ENST00000485568.1_Silent_p.S525S|KAT6A_ENST00000265713.2_Silent_p.S525S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	525	Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S525S(1)									GAGGATATGGGGAGGAGTACC	0.463000													7	52					0	0	0.000274275	0	0
PLCH1	23007	broad.mit.edu	37	3	155311961	155311961	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:155311961G>A	ENST00000460012.1	-	4	506	c.149C>T	c.(148-150)tCc>tTc	p.S50F	PLCH1_ENST00000494598.1_Missense_Mutation_p.S68F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S68F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S50F|PLCH1_ENST00000447496.2_Missense_Mutation_p.S68F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S50F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	68	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGTAAATGGAATCAATAAG	0.423000													8	56					0	0	0.000442599	0	0
C20orf112	140688	broad.mit.edu	37	20	31044018	31044018	+	Missense_Mutation	SNP	G	G	A	rs146253793	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:31044018G>A	ENST00000359676.5	-	3	432	c.290C>T	c.(289-291)cCg>cTg	p.P97L	C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	97										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TGCCGTGGCCGGCGGGAGCTT	0.682000													10	66					0	0	0.000673444	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981702	61981702	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:61981702C>T	ENST00000370263.4	-	5	1282	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	354					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GAGGAGCAGGCGTGGCACGAT	0.637000													7	50					0	0	0.000274275	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363464	42363464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:42363464C>T	ENST00000290472.3	-	17	1827	c.1733G>A	c.(1732-1734)tGg>tAg	p.W578*		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	578	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TGGCTGCAGCCACGAGGCCTC	0.637000													8	34					0	0	0.000442599	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391717	22391717	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:22391717G>A	ENST00000263160.3	+	8	1461	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	342					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAAGTCTTTGGATTTGAAAT	0.299000													7	61					0	0	0.000157383	0	0
OR5M10	390167	broad.mit.edu	37	11	56344634	56344634	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:56344634G>A	ENST00000526812.2	-	1	629	c.564C>T	c.(562-564)gcC>gcT	p.A188A		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGTCAGAGCAGGCCAGCATGA	0.448000													17	56					0	0	0.000422831	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762578	81762578	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:81762578C>T	ENST00000550584.2	-	12	1703	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	PPFIA2_ENST00000550359.2_Missense_Mutation_p.D317N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D470N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D470N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D396N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D452N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D37N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D371N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D470N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D452N|PPFIA2_ENST00000541017.1_5'UTR	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	396										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGAAGTCTATCAACCGTATCC	0.353000													4	20					0	0	0.00024832	0	0
DNAH5	1767	broad.mit.edu	37	5	13830199	13830199	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:13830199G>A	ENST00000265104.4	-	37	6289	c.6185C>T	c.(6184-6186)tCt>tTt	p.S2062F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2062	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGATAAAAGACTTTTTGTG	0.383000									Kartagener syndrome				6	38					0	0	0.000157383	0	0
GPR133	283383	broad.mit.edu	37	12	131616322	131616322	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:131616322C>T	ENST00000261654.5	+	21	2787	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Missense_Mutation_p.A262V|GPR133_ENST00000535015.1_Missense_Mutation_p.A775V|GPR133_ENST00000376682.4_Missense_Mutation_p.A429V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	743					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGATCAGCGCCGACAACTAC	0.572000													5	51					0	0	0.000157383	0	0
ERF	2077	broad.mit.edu	37	19	42752971	42752971	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:42752971C>T	ENST00000222329.4	-	4	1450	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	ERF_ENST00000440177.2_Silent_p.S356S|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	431					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				ACTCGCCTTCCGAGATGGGCT	0.662000													22	148					0	0	0.00278032	0	0
PRSS54	221191	broad.mit.edu	37	16	58320099	58320099	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:58320099C>T	ENST00000219301.4	-	5	658	c.263_splice	c.e5-1	p.R88_splice	PRSS54_ENST00000543437.1_5'UTR|PRSS54_ENST00000567164.1_Splice_Site_p.R88_splice	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	88	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAATGTCCTTCCTGGAGAGAG	0.443000													8	69					0	0	0.000442599	0	0
DNAH7	56171	broad.mit.edu	37	2	196825163	196825163	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:196825163C>T	ENST00000312428.6	-	18	2812	c.2712G>A	c.(2710-2712)gcG>gcA	p.A904A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	904	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTCTCCATCGCCTTTTCAA	0.378000													18	85					0	0	0.000958276	0	0
ASAP1	50807	broad.mit.edu	37	8	131138245	131138245	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:131138245A>T	ENST00000357668.1	-	16	1499	c.1472T>A	c.(1471-1473)aTt>aAt	p.I491N	ASAP1_ENST00000518721.1_Missense_Mutation_p.I491N			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	491	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAAAGACTGAATGCGAGAAAT	0.388000													18	48					0	0	0.00121646	0	0
GPR115	221393	broad.mit.edu	37	6	47675989	47675989	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:47675989G>A	ENST00000283303.2	+	3	381	c.123G>A	c.(121-123)ggG>ggA	p.G41G	GPR115_ENST00000371220.1_Silent_p.G98G|GPR115_ENST00000327753.3_Silent_p.G41G	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	41					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCCCTGAAGGGAAACCCAAGA	0.453000													4	19					0	0	0.000602214	0	0
ACSS1	84532	broad.mit.edu	37	20	24994654	24994654	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:24994654G>A	ENST00000537502.1	-	7	2677	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	ACSS1_ENST00000432802.2_Silent_p.L465L|ACSS1_ENST00000323482.4_Silent_p.L465L|ACSS1_ENST00000542618.1_Silent_p.L344L			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	465					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATGGCAGGGAGGATTTCCG	0.587000													4	17					0	0	0.000602214	0	0
BAG1	573	broad.mit.edu	37	9	33264545	33264545	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:33264545G>A	ENST00000472232.3	-	1	214	c.128C>T	c.(127-129)cCc>cTc	p.P43L	BAG1_ENST00000379704.2_5'UTR	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	BCL2-associated athanogene	43	Arg-rich.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			ACGCCCAGAGGGAGGCGGACC	0.771000													3	12					0	0	6.4e-05	0	0
GLG1	2734	broad.mit.edu	37	16	74505106	74505106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:74505106C>T	ENST00000422840.2	-	15	2193	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	GLG1_ENST00000205061.5_Missense_Mutation_p.E732K|GLG1_ENST00000447066.2_Missense_Mutation_p.E721K	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	732						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCACACTTCTCGTTCATGTCC	0.498000													25	229					0	0	0.00047179	0	0
MECOM	2122	broad.mit.edu	37	3	168845645	168845645	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:168845645G>A	ENST00000464456.1	-	4	1453	c.253C>T	c.(253-255)Cct>Tct	p.P85S	MECOM_ENST00000472280.1_Missense_Mutation_p.P85S|MECOM_ENST00000468789.1_Missense_Mutation_p.P85S|MECOM_ENST00000392736.3_Missense_Mutation_p.P85S|MECOM_ENST00000264674.3_Missense_Mutation_p.P149S|MECOM_ENST00000433243.2_Missense_Mutation_p.P85S|MECOM_ENST00000494292.1_Missense_Mutation_p.P273S|MECOM_ENST00000460814.1_Missense_Mutation_p.P85S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGCAAATCAGGAAAAACTTGG	0.383000													4	68					0	0	0.00024832	0	0
PILRB	29990	broad.mit.edu	37	7	99956576	99956576	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:99956576C>T	ENST00000310771.4	+	16	2824	c.328C>T	c.(328-330)Ctc>Ttc	p.L110F	PILRB_ENST00000444874.1_Missense_Mutation_p.P40L|PILRB_ENST00000444073.1_Missense_Mutation_p.L110F|PILRB_ENST00000452089.1_Missense_Mutation_p.L110F|PILRB_ENST00000448382.1_Missense_Mutation_p.P162L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	110	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCGGCTTCCTCAGGATCTC	0.562000													24	134					0	0	0.000720815	0	0
SALL1	6299	broad.mit.edu	37	16	51175391	51175391	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:51175391C>T	ENST00000440970.1	-	2	882	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E248K	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	248	Poly-Ser.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGAATCTGTTCGATCAATTGC	0.542000													20	125					0	0	0.00278032	0	0
SF3B4	10262	broad.mit.edu	37	1	149895472	149895472	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:149895472G>A	ENST00000271628.8	-	6	1821	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	413						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCGAGGGGGAACTGGTGGC	0.582000													11	32					0	0	0.000978159	0	0
PGBD4	161779	broad.mit.edu	37	15	34395929	34395929	+	Silent	SNP	C	C	T	rs150359363	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:34395929C>T	ENST00000397766.2	+	1	1656	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	399										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TGTCAACATTCCACAATGATA	0.413000													9	60					0	0	0.000274275	0	0
FYCO1	79443	broad.mit.edu	37	3	46009752	46009752	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:46009752C>T	ENST00000296137.2	-	8	1279	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	FYCO1_ENST00000535325.1_Silent_p.L358L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	358					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTTTCTTGTCCAGTGAGTCCC	0.592000													29	120					0	0	0.001512	0	0
GLUD1	2746	broad.mit.edu	37	10	88818905	88818905	+	Splice_Site	SNP	A	A	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:88818905A>C	ENST00000277865.4	-	10	1499		c.e10+1		GLUD1_ENST00000544149.1_Splice_Site|GLUD1_ENST00000537649.1_Splice_Site	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1						glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATCGATACTCACTGAGCAAGT	0.403000													25	128					0	0	0.000878237	0	0
LPHN1	22859	broad.mit.edu	37	19	14262155	14262155	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:14262155C>T	ENST00000340736.6	-	24	4252	c.3955G>A	c.(3955-3957)Gag>Aag	p.E1319K	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E1314K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1319					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCTCTTCCTCGCCCCCGCCC	0.716000													4	13					0	0	0.00024832	0	0
TRPM8	79054	broad.mit.edu	37	2	234894442	234894442	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:234894442C>T	ENST00000324695.4	+	21	2912	c.2872C>T	c.(2872-2874)Ccc>Tcc	p.P958S	TRPM8_ENST00000433712.2_Missense_Mutation_p.P536S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	958						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GATCACCATCCCCCTGGTGTG	0.542000													7	48					0	0	0.00198382	0	0
OGDH	4967	broad.mit.edu	37	7	44741166	44741166	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:44741166C>T	ENST00000222673.5	+	20	2626	c.2584C>T	c.(2584-2586)Ctg>Ttg	p.L862L	OGDH_ENST00000449767.1_Silent_p.L858L|OGDH_ENST00000447398.1_Silent_p.L873L|OGDH_ENST00000444676.1_Silent_p.L877L|OGDH_ENST00000439616.2_Silent_p.L712L|OGDH_ENST00000543843.1_Silent_p.L813L	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	862					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCCCAAATCCCTGTTGCGCCA	0.498000													10	53					0	0	0.000978159	0	0
TIE1	7075	broad.mit.edu	37	1	43778085	43778085	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:43778085C>T	ENST00000372476.3	+	12	1819	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	TIE1_ENST00000433781.2_Silent_p.F225F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	580	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGACGGTTTCCTGCTGCGCC	0.701000													11	62					0	0	0.000978159	0	0
PRTN3	5657	broad.mit.edu	37	19	843590	843590	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:843590G>A	ENST00000544537.2	+	1	250	c.68G>A	c.(67-69)aGc>aAc	p.S23N	PRTN3_ENST00000234347.5_Missense_Mutation_p.S64N			P24158	PRTN3_HUMAN	proteinase 3	64					collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		ATCCACCCCAGCTTCGTGCTG	0.731000													4	14					0	0	0.00024832	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203153	140203153	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140203153C>T	ENST00000529859.1	+	1	1793	c.1793C>T	c.(1792-1794)cCt>cTt	p.P598L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P598L|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P598L	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTGGACCCTGATTCGGGC	0.682000													8	67					0	0	0.000442599	0	0
DIS3L2	129563	broad.mit.edu	37	2	232952409	232952409	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:232952409C>T	ENST00000325385.7	+	6	855	c.579C>T	c.(577-579)ctC>ctT	p.L193L	DIS3L2_ENST00000409307.1_Silent_p.L193L|DIS3L2_ENST00000360410.4_Silent_p.L193L|DIS3L2_ENST00000273009.6_Silent_p.L193L|DIS3L2_ENST00000409401.3_Silent_p.L193L|DIS3L2_ENST00000470087.1_3'UTR	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	193							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTAAGAAACTCTCAGTTTGTG	0.403000													5	34					0	0	0.000602214	0	0
NLRP10	338322	broad.mit.edu	37	11	7981217	7981217	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:7981217C>T	ENST00000328600.2	-	2	2103	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	648							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTGGTGTTTCCTCTGTCCCT	0.378000													8	38					0	0	0.000274275	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356917	67356917	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:67356917C>T	ENST00000396623.3	+	5	318	c.287C>T	c.(286-288)tCc>tTc	p.S96F	ADHFE1_ENST00000379385.4_Missense_Mutation_p.S96F|ADHFE1_ENST00000415254.1_Missense_Mutation_p.S48F|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	96					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTATGGATTCCCTAGTGAAG	0.403000													24	175					0	0	0.00178596	0	0
USP7	7874	broad.mit.edu	37	16	9000299	9000299	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:9000299G>A	ENST00000344836.4	-	13	1610	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L	USP7_ENST00000535863.1_Missense_Mutation_p.P372L|USP7_ENST00000381886.4_Missense_Mutation_p.P455L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	471					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATCCCCTTTGGGGTTTAGATA	0.448000													20	88					0	0	0.00278032	0	0
C10orf120	399814	broad.mit.edu	37	10	124459184	124459184	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:124459184C>T	ENST00000329446.4	-	1	154	c.123G>A	c.(121-123)caG>caA	p.Q41Q		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	41										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGGCTTGATCCTGAAAGGAAG	0.448000													6	43					0	0	0.00116845	0	0
ZNF560	147741	broad.mit.edu	37	19	9577806	9577806	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:9577806C>T	ENST00000301480.4	-	10	2030	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GAAGGCTTTTCCACATTTCTT	0.408000													14	74					0	0	0.000308642	0	0
OR5D14	219436	broad.mit.edu	37	11	55563262	55563262	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:55563262C>T	ENST00000335605.1	+	1	231	c.231C>T	c.(229-231)tcC>tcT	p.S77S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTTACTCTTCCATTGTCACTC	0.403000													7	28					0	0	0.00198382	0	0
FCRLA	84824	broad.mit.edu	37	1	161681928	161681928	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:161681928C>A	ENST00000540926.1	+	5	1015	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.S146Y|FCRLA_ENST00000294796.4_Missense_Mutation_p.S101Y|FCRLA_ENST00000236938.6_Missense_Mutation_p.S252Y|FCRLA_ENST00000546024.1_Missense_Mutation_p.S163Y|FCRLA_ENST00000540521.1_Missense_Mutation_p.S118Y|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.S241Y|FCRLA_ENST00000367957.2_Missense_Mutation_p.S112Y|FCRLA_ENST00000367959.2_Missense_Mutation_p.S258Y|FCRLA_ENST00000349527.4_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	235	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GAAGATCACTCCGGGTCATAC	0.552000													12	65					9.31168e-06	3.65441e-05	0.00185496	1	0
PPFIA2	8499	broad.mit.edu	37	12	81741331	81741331	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:81741331C>T	ENST00000550584.2	-	17	2508	c.2213G>A	c.(2212-2214)cGg>cAg	p.R738Q	PPFIA2_ENST00000550359.2_Missense_Mutation_p.R585Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R738Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R738Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R664Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R720Q|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R305Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R639Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R738Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R720Q|PPFIA2_ENST00000541017.1_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	664										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GACTCCCATCCGATCCATTTC	0.498000													17	82					0	0	0.000566183	0	0
MGAM	8972	broad.mit.edu	37	7	141758086	141758086	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:141758086C>T	ENST00000475668.2	+	31	3831	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I	MGAM_ENST00000549489.2_Silent_p.I1259I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1259	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCTGAGATCGCCAGCTTGT	0.498000													148	312					0	0	0.000781405	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111795743	111795743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:111795743G>A	ENST00000452346.2	+	16	1979	c.1976G>A	c.(1975-1977)tGg>tAg	p.W659*	TMPRSS7_ENST00000419127.1_Nonsense_Mutation_p.W533*			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	659	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCCACACCATGGACTGCACAC	0.438000													27	140					0	0	0.000720815	0	0
DNAH11	8701	broad.mit.edu	37	7	21723549	21723549	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:21723549C>T	ENST00000328843.6	+	33	5660	c.5629C>T	c.(5629-5631)Cct>Tct	p.P1877S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P1870S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1877	AAA 1 (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						AGTGATCACTCCTCTAACTGA	0.413000									Kartagener syndrome				9	61					0	0	0.000442599	0	0
ACTR3B	57180	broad.mit.edu	37	7	152497740	152497740	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:152497740G>A	ENST00000256001.8	+	3	359	c.225_splice	c.e3+1	p.K75_splice	ACTR3B_ENST00000488782.1_3'UTR|ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000397282.2_5'UTR|ACTR3B_ENST00000377776.3_Splice_Site_p.K75_splice	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	75					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ATGCTACAAAGGTAAATTTCC	0.403000													11	79					0	0	0.000978159	0	0
ITGB4	3691	broad.mit.edu	37	17	73727378	73727378	+	Missense_Mutation	SNP	C	C	T	rs141337579	by1000genomes	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:73727378C>T	ENST00000200181.3	+	10	1331	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	ITGB4_ENST00000449880.2_Missense_Mutation_p.R382W|ITGB4_ENST00000339591.3_Missense_Mutation_p.R382W|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R382W|ITGB4_ENST00000579662.1_Missense_Mutation_p.R382W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	382					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGAGGCCTTCGGACAGAGGT	0.637000													9	73					0	0	0.000274275	0	0
CRB1	23418	broad.mit.edu	37	1	197396610	197396610	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:197396610G>A	ENST00000367397.1	+	3	1156	c.298G>A	c.(298-300)Gat>Aat	p.D100N	CRB1_ENST00000367400.3_Missense_Mutation_p.D719N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.D200N|CRB1_ENST00000535699.1_Missense_Mutation_p.D650N|CRB1_ENST00000367399.2_Missense_Mutation_p.D607N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	719	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTTGGCCAGGATGACTCCAC	0.438000													7	39					0	0	0.000157383	0	0
GPR98	84059	broad.mit.edu	37	5	89938477	89938477	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:89938477G>A	ENST00000405460.2	+	12	2361	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	755					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCAAGTGCTGAAATCTGGAT	0.413000													11	81					0	0	0.00185496	0	0
DMTN	2039	broad.mit.edu	37	8	21931340	21931340	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:21931340C>T	ENST00000358242.3	+	10	1322	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	DMTN_ENST00000519907.1_Missense_Mutation_p.H277Y|DMTN_ENST00000265800.5_Missense_Mutation_p.H277Y|DMTN_ENST00000517600.1_Missense_Mutation_p.H237Y|DMTN_ENST00000523782.2_Missense_Mutation_p.H252Y|DMTN_ENST00000523266.1_Missense_Mutation_p.H277Y|DMTN_ENST00000443491.2_Missense_Mutation_p.H252Y|DMTN_ENST00000381470.3_Missense_Mutation_p.H277Y|DMTN_ENST00000432128.1_Missense_Mutation_p.H277Y|DMTN_ENST00000415253.1_Missense_Mutation_p.H277Y					dematin actin binding protein																		GACACCCTTCCATACCTGTGA	0.517000													6	49					0	0	0.00116845	0	0
RANBP3	8498	broad.mit.edu	37	19	5931539	5931539	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:5931539G>A	ENST00000340578.6	-	8	626	c.569C>T	c.(568-570)cCc>cTc	p.P190L	RANBP3_ENST00000439268.2_Missense_Mutation_p.P190L|RANBP3_ENST00000034275.8_Missense_Mutation_p.P122L|RANBP3_ENST00000541471.1_Missense_Mutation_p.P62L|RANBP3_ENST00000591092.1_Missense_Mutation_p.P122L	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	190					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GCCACTGCTGGGGACTGTGGG	0.652000													12	60					0	0	0.00185496	0	0
KCNU1	157855	broad.mit.edu	37	8	36793060	36793060	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:36793060G>A	ENST00000399881.3	+	27	3109	c.3072G>A	c.(3070-3072)gaG>gaA	p.E1024E		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1024						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAGCCAATGAGTTCAAGCTGC	0.448000													5	42					0	0	0.00116845	0	0
SUCO	51430	broad.mit.edu	37	1	172501635	172501635	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:172501635C>T	ENST00000367723.3	+	1	147	c.23C>T	c.(22-24)cCc>cTc	p.P8L		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TTGGCACGCCCCTTTCTATCT	0.502000													6	25					0	0	0.00198382	0	0
CYP2R1	120227	broad.mit.edu	37	11	14902178	14902178	+	Silent	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:14902178A>T	ENST00000334636.5	-	3	550	c.504T>A	c.(502-504)gcT>gcA	p.A168A	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	168					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ATGTTTCAATAGCATCATTGA	0.313000													3	10					0	0	6.4e-05	0	0
SH2B1	25970	broad.mit.edu	37	16	28883220	28883220	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:28883220C>T	ENST00000337120.5	+	5	4720	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	SH2B1_ENST00000395532.4_Missense_Mutation_p.P477S|SH2B1_ENST00000322610.8_Missense_Mutation_p.P477S|SH2B1_ENST00000545570.1_Missense_Mutation_p.P167S|SH2B1_ENST00000538342.1_Missense_Mutation_p.P141S|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.P477S	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	477	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCCGCATCCCCATTGAAGA	0.627000													10	44					0	0	0.000673444	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446055	29446055	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:29446055C>T	ENST00000544604.2	+	8	2061	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L	ZNRF3_ENST00000402174.1_Missense_Mutation_p.P529L|ZNRF3_ENST00000406323.3_Missense_Mutation_p.P529L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.P529L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	629						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGCTCCCCGCCTCCCGAGGAG	0.741000													7	56					0	0	0.000157383	0	0
UBR4	23352	broad.mit.edu	37	1	19465712	19465712	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:19465712G>A	ENST00000375267.2	-	59	8599	c.8596C>T	c.(8596-8598)Cca>Tca	p.P2866S	UBR4_ENST00000375217.2_Missense_Mutation_p.P2859S|UBR4_ENST00000375254.3_Missense_Mutation_p.P2866S|UBR4_ENST00000375226.2_Missense_Mutation_p.P2842S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2866					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTGAGGCTGGAGCTGAGAGA	0.498000													10	47					0	0	0.000673444	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58024844	58024844	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:58024844G>A	ENST00000341156.4	-	4	993	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.L137F|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.L137F|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.L82F|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.L137F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	137					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGGCTATGAGCAGCTGGTCA	0.642000													13	55					0	0	0.00136819	0	0
ITPR1	3708	broad.mit.edu	37	3	4808225	4808225	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:4808225C>T	ENST00000302640.8	+	44	5861	c.5511C>T	c.(5509-5511)ttC>ttT	p.F1837F	ITPR1_ENST00000423119.2_Silent_p.F1804F|ITPR1_ENST00000354582.6_Silent_p.F1837F|ITPR1_ENST00000357086.4_Silent_p.F1804F|ITPR1_ENST00000443694.2_Silent_p.F1837F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.F1789F	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1852					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACTCCTTTTTCTGTCGCTTGA	0.423000													14	58					0	0	0.000308642	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672273	44672273	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:44672273G>A	ENST00000454036.1	+	10	1384	c.1306_splice	c.e10-1	p.G436_splice	SLC12A5_ENST00000243964.3_Splice_Site_p.G413_splice|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	436					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTTTGCAGGGATCATGGCTG	0.572000													13	78					0	0	0.00185496	0	0
KRT84	3890	broad.mit.edu	37	12	52778976	52778976	+	Missense_Mutation	SNP	G	G	A	rs140458726		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:52778976G>A	ENST00000257951.3	-	1	460	c.394C>T	c.(394-396)Cca>Tca	p.P132S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	132	Head.					keratin filament	structural constituent of epidermis	p.P132S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGGCTGCTGGGACTCCAACC	0.567000													30	143					0	0	0.00178596	0	0
OR10T2	128360	broad.mit.edu	37	1	158369106	158369106	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158369106G>A	ENST00000334438.1	-	1	150	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAGCTGAAGCGAATAACGGCC	0.483000													6	30					0	0	0.00116845	0	0
EQTN	54586	broad.mit.edu	37	9	27291062	27291062	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:27291062C>T	ENST00000380032.3	-	5	460		c.e5-1		EQTN_ENST00000537675.1_Splice_Site	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		GGGGTTGATCCTGTTaaaaca	0.338000													6	21					0	0	0.00116845	0	0
NALCN	259232	broad.mit.edu	37	13	101763545	101763545	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:101763545G>A	ENST00000251127.6	-	19	2306	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	742						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCCTCAAATGATCCGCTCAG	0.493000													12	59					0	0	0.00136819	0	0
DNAH2	146754	broad.mit.edu	37	17	7696092	7696092	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:7696092G>A	ENST00000572933.1	+	47	8723	c.7263G>A	c.(7261-7263)ggG>ggA	p.G2421G	DNAH2_ENST00000389173.2_Silent_p.G2421G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2421	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGGGACTGGGAAGACCTCCA	0.617000													6	34					0	0	0.00198382	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451751	37451751	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:37451751G>A	ENST00000374660.1	+	17	1908	c.1809G>A	c.(1807-1809)ttG>ttA	p.L603L	ANKRD30A_ENST00000602533.1_Silent_p.L603L|ANKRD30A_ENST00000361713.1_Silent_p.L603L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	659						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTGGAATTGAAAAATGAAC	0.328000													16	99					0	0	0.00074312	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64593978	64593978	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:64593978G>A	ENST00000342711.5	-	36	4562	c.4563C>T	c.(4561-4563)ccC>ccT	p.P1521P		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1521					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCGATCCCTGGGGGCAGGACA	0.562000													3	12					0	0	6.4e-05	0	0
PBX1	5087	broad.mit.edu	37	1	164761910	164761910	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:164761910G>A	ENST00000420696.2	+	3	633	c.445G>A	c.(445-447)Gat>Aat	p.D149N	PBX1_ENST00000560641.1_Missense_Mutation_p.D44N|PBX1_ENST00000559240.1_Missense_Mutation_p.D149N|PBX1_ENST00000401534.1_Missense_Mutation_p.D149N|PBX1_ENST00000367897.1_Missense_Mutation_p.D149N|PBX1_ENST00000540246.1_Missense_Mutation_p.D44N|PBX1_ENST00000540236.1_Missense_Mutation_p.D149N	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	149					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGAGCATTCAGATTACAGAGC	0.622000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								19	84					0	0	0.00121646	0	0
GPR18	2841	broad.mit.edu	37	13	99907258	99907258	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:99907258G>A	ENST00000340807.3	-	3	1425	c.869C>T	c.(868-870)tCa>tTa	p.S290L	GPR18_ENST00000397473.2_Missense_Mutation_p.S290L|GPR18_ENST00000397470.2_Missense_Mutation_p.S290L|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	290						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	AAATTGTTTTGAAACGATGTA	0.468000													14	63					0	0	0.00244969	0	0
TRAK2	66008	broad.mit.edu	37	2	202248842	202248842	+	Silent	SNP	A	A	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:202248842A>C	ENST00000332624.3	-	15	2489	c.2061T>G	c.(2059-2061)gtT>gtG	p.V687V		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	687				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ACCTGGGGGTAACCTGAGTGA	0.428000													6	36					0	0	0.00116845	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566752	45566752	+	Missense_Mutation	SNP	C	C	T	rs141368497		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:45566752C>T	ENST00000588982.1	-	3	1228	c.727G>A	c.(727-729)Gac>Aac	p.D243N	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.D243N|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.D243N|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.D243N|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.D243N			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	243						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCTCCTGTCGGGGATGTTG	0.612000													9	26					0	0	0.000442599	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921158	12921158	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:12921158C>T	ENST00000240189.2	+	4	1036	c.949C>T	c.(949-951)Cca>Tca	p.P317S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	317										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCAGTTCCCAAGCCTCGG	0.493000													29	212					0	0	0.00106085	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360879	47360879	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:47360879T>G	ENST00000545968.1	-	22	2198	c.2144A>C	c.(2143-2145)aAg>aCg	p.K715T	MYBPC3_ENST00000399249.2_Missense_Mutation_p.K715T|MYBPC3_ENST00000256993.4_Missense_Mutation_p.K714T	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	714	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACTCACCTTCTTGTCAAACAC	0.592000													16	161					0	0	0.000958276	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049314	36049314	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:36049314C>T	ENST00000282507.3	-	4	621	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.E140K	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	174						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCCAAATTCCAAAGAGCCG	0.448000													4	37					0	0	0.00024832	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976026	120976026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:120976026C>T	ENST00000273666.6	+	17	1949	c.1678C>T	c.(1678-1680)Cag>Tag	p.Q560*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.Q560*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.Q560*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.Q560*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.Q560*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	560					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTACGACTTCAGTATGATGT	0.333000													6	63					0	0	0.00116845	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354696	45354696	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:45354696C>T	ENST00000359271.2	+	2	1271	c.1021C>T	c.(1021-1023)Ctc>Ttc	p.L341F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	341						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCAGACAGGCCTCCCTGGAGA	0.602000													10	63					0	0	0.000673444	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013051	247013051	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:247013051G>A	ENST00000366508.1	-	33	6498	c.6362C>T	c.(6361-6363)gCc>gTc	p.A2121V	AHCTF1_ENST00000326225.3_Missense_Mutation_p.A2095V|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.A2086V			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2086	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGAAGCTGTGGCGAGCAATCT	0.443000													10	63					0	0	0.000673444	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059752	79059752	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:79059752G>A	ENST00000388820.4	-	18	3038	c.2828C>T	c.(2827-2829)cCg>cTg	p.P943L	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	943	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCAGGTGGCCGGACAGGGTAC	0.657000													5	26					0	0	0.000602214	0	0
WNK3	65267	broad.mit.edu	37	X	54359611	54359611	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:54359611C>A	ENST00000354646.2	-	2	934	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	WNK3_ENST00000375159.2_Missense_Mutation_p.D166Y|WNK3_ENST00000375169.3_Missense_Mutation_p.D166Y	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	166	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTTTCAGTGTCCAGTCCTTTA	0.408000													16	35					2.94398e-08	1.16192e-07	0.000958276	1	0
OR1M1	125963	broad.mit.edu	37	19	9204418	9204418	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:9204418C>T	ENST00000429566.3	+	1	564	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGGCCCGTCTCGTTTTCTGCG	0.577000													23	115					0	0	0.000720815	0	0
ACACB	32	broad.mit.edu	37	12	109629452	109629452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:109629452C>T	ENST00000338432.7	+	14	2298	c.2179C>T	c.(2179-2181)Cga>Tga	p.R727*	ACACB_ENST00000377854.5_Nonsense_Mutation_p.R727*|ACACB_ENST00000377848.3_Nonsense_Mutation_p.R727*			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	727	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.R727R(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACTGTCCATCCGAGGCGACTT	0.488000													14	100					0	0	0.000422831	0	0
ANK2	287	broad.mit.edu	37	4	114117612	114117612	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:114117612C>T	ENST00000357077.4	+	3	328	c.275C>T	c.(274-276)tCt>tTt	p.S92F	ANK2_ENST00000394537.3_Missense_Mutation_p.S92F|ANK2_ENST00000264366.6_Missense_Mutation_p.S92F|ANK2_ENST00000506722.1_Missense_Mutation_p.S71F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	92					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGTGGATTCTGCCACTAAG	0.423000													9	32					0	0	0.000442599	0	0
PRDM9	56979	broad.mit.edu	37	5	23527651	23527651	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:23527651C>T	ENST00000296682.3	+	11	2636	c.2454C>T	c.(2452-2454)caC>caT	p.H818H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	818					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						ATAAGTCACACCTCCTCAGAC	0.552000										HNSCC(3;0.000094)			8	91					0	0	0.00185496	0	0
MIR1275	100302123	broad.mit.edu	37	6	33967763	33967763	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:33967763G>A	ENST00000408770.1	-	0	65					NR_031681.1																						TCTGCCTTGGGGAAAATAAGT	0.512000													8	59					0	0	0.000274275	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032901	82032901	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:82032901C>T	ENST00000328945.5	-	3	1124	c.997G>A	c.(997-999)Gag>Aag	p.E333K		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	333					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TAACCTAGCTCTTTCTTGGCT	0.463000													12	110					0	0	0.00136819	0	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:20249284C>T	ENST00000315957.4	+	1	884	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		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)		GACTCATTTTCCCTAGATAAA	0.418000													7	53					0	0	0.000274275	0	0
TACC2	10579	broad.mit.edu	37	10	123847380	123847380	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:123847380G>A	ENST00000369005.1	+	4	5705	c.5365G>A	c.(5365-5367)Gat>Aat	p.D1789N	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1789N|TACC2_ENST00000334433.3_Missense_Mutation_p.D1789N|TACC2_ENST00000453444.2_Missense_Mutation_p.D1789N|TACC2_ENST00000515273.1_Missense_Mutation_p.D1789N|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1789						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCAGCTGGGGATGGGAAGGT	0.622000													10	28					0	0	0.00185496	0	0
ZNF613	79898	broad.mit.edu	37	19	52447895	52447895	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:52447895C>T	ENST00000293471.6	+	6	1438	c.759C>T	c.(757-759)aaC>aaT	p.N253N	ZNF613_ENST00000391794.4_Silent_p.N217N	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACCAGAGAAACCACACAGGAG	0.463000													11	86					0	0	0.000978159	0	0
TTC3	7267	broad.mit.edu	37	21	38524315	38524315	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:38524315A>T	ENST00000399017.2	+	26	5146	c.2399A>T	c.(2398-2400)aAt>aTt	p.N800I	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.N800I|TTC3_ENST00000355666.1_Missense_Mutation_p.N800I|TTC3_ENST00000540756.1_Missense_Mutation_p.N490I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	800					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCACCCAAAAATGAAGAGCAG	0.328000													23	95					0	0	0.00278032	0	0
AKAP6	9472	broad.mit.edu	37	14	33015010	33015010	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:33015010C>T	ENST00000280979.4	+	4	1321	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	AKAP6_ENST00000557354.1_Missense_Mutation_p.P384L|AKAP6_ENST00000557272.1_Missense_Mutation_p.P384L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	384					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGGACTCTCCCACGCAGCCT	0.418000													10	43					0	0	0.000673444	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128403	20128403	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:20128403G>A	ENST00000334554.7	+	7	903	c.762G>A	c.(760-762)gtG>gtA	p.V254V	ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Silent_p.V162V|ZDHHC8_ENST00000405930.3_Silent_p.V254V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	254						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGTACGTGGTGGAGCCACCCC	0.627000													11	51					0	0	0.00136819	0	0
DGKG	1608	broad.mit.edu	37	3	185993421	185993421	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:185993421G>A	ENST00000265022.3	-	10	1364	c.825C>T	c.(823-825)acC>acT	p.T275T	DGKG_ENST00000382164.4_Silent_p.T275T|DGKG_ENST00000344484.4_Silent_p.T275T|DGKG_ENST00000544847.1_Silent_p.T275T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	275					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGTGCTTCATGGTCCAGGCGT	0.577000													7	48					0	0	0.000274275	0	0
IFNA7	3444	broad.mit.edu	37	9	21201839	21201839	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:21201839G>A	ENST00000239347.3	-	1	365	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	109					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGTTCAGTGGAAAATTTTTC	0.493000													17	79					0	0	0.000566183	0	0
SVEP1	79987	broad.mit.edu	37	9	113169844	113169844	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:113169844G>A	ENST00000401783.2	-	38	8372	c.8036C>T	c.(8035-8037)aCc>aTc	p.T2679I	SVEP1_ENST00000374469.1_Missense_Mutation_p.T2656I|SVEP1_ENST00000297826.5_Missense_Mutation_p.T605I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2679	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAAACCATGGTACCATACAG	0.473000													38	185					0	0	0.00111076	0	0
KRT25	147183	broad.mit.edu	37	17	38907296	38907296	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:38907296G>A	ENST00000312150.4	-	5	927	c.867C>T	c.(865-867)gtC>gtT	p.V289V		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	289	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGTGGCTCCGACATCCTCAG	0.483000													7	55					0	0	0.000274275	0	0
WDR63	126820	broad.mit.edu	37	1	85595745	85595745	+	Missense_Mutation	SNP	C	C	T	rs143304188		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:85595745C>T	ENST00000294664.6	+	22	2662	c.2482C>T	c.(2482-2484)Cgt>Tgt	p.R828C	WDR63_ENST00000370596.1_Missense_Mutation_p.R789C|WDR63_ENST00000326813.8_Missense_Mutation_p.R789C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	828										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAAAAAAATTCGTGAGCAAGA	0.368000													19	155					0	0	0.000958276	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917321	108917321	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:108917321C>T	ENST00000251481.6	+	4	758	c.305C>T	c.(304-306)tCt>tTt	p.S102F	SULT1C2_ENST00000437390.2_Missense_Mutation_p.S116F|SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000326853.5_Intron	NM_001056.3	NP_001047.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	102					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCAATGCCCTCTCCACGGATA	0.478000													24	140					0	0	0.00127121	0	0
IQCG	84223	broad.mit.edu	37	3	197665521	197665521	+	Missense_Mutation	SNP	C	C	A	rs75671851	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:197665521C>A	ENST00000265239.6	-	5	837	c.413G>T	c.(412-414)cGg>cTg	p.R138L	IQCG_ENST00000455191.1_Missense_Mutation_p.R138L|IQCG_ENST00000453254.1_Missense_Mutation_p.R138L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	138										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CACAGCGAACCGGCCTCTGTG	0.423000													7	264					0.00198382	0.00769889	0.00198382	1	0
TRBV2	28620	broad.mit.edu	37	7	142001095	142001095	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142001095G>A	ENST00000455382.2	+	0	261																											GCAGAAAGTCGAGTTTCTGGT	0.393000													4	31					0	0	0.00116845	0	0
PAPPA	5069	broad.mit.edu	37	9	118982244	118982244	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:118982244C>T	ENST00000328252.3	+	5	2316	c.1947C>T	c.(1945-1947)ccC>ccT	p.P649P	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	649					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCTTCACGCCCAATCAAGTCG	0.592000													16	94					0	0	0.000566183	0	0
ZNF546	339327	broad.mit.edu	37	19	40521505	40521505	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:40521505C>T	ENST00000347077.4	+	7	2544	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P	ZNF546_ENST00000600094.1_Silent_p.P750P|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGAGAAACCCTATAAATGTA	0.383000													5	37					0	0	0.000602214	0	0
CAMTA2	23125	broad.mit.edu	37	17	4876977	4876977	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:4876977G>C	ENST00000361571.5	-	12	2512	c.2101C>G	c.(2101-2103)Cgt>Ggt	p.R701G	CAMTA2_ENST00000414043.3_Missense_Mutation_p.R725G|CAMTA2_ENST00000348066.3_Missense_Mutation_p.R702G|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R704G|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R707G|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R702G	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	702					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGGGCCAGACGTTCAGGACCC	0.627000													8	48					0	0	0.000442599	0	0
SERPINB12	89777	broad.mit.edu	37	18	61231222	61231222	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:61231222G>A	ENST00000382768.1	+	5	574	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.E172K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	172					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TAAAATCAAGGAACTCTTCAG	0.343000													14	82					0	0	0.000422831	0	0
C17orf74	201243	broad.mit.edu	37	17	7329683	7329683	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:7329683C>T	ENST00000333870.3	+	3	447	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	C17orf74_ENST00000574034.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	125	Arg-rich.					integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TCGCTGTGTTcgtcgccgccg	0.607000													21	109					0	0	0.00152264	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446914	169446914	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:169446914G>A	ENST00000236137.5	-	2	522	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Missense_Mutation_p.R96C	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	96					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GGTTTATAACGGAGGTAGTCT	0.428000													6	38					0	0	0.00116845	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704348	47704348	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:47704348G>A	ENST00000397708.1	-	2	1107	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S	MCM3AP_ENST00000291688.1_Missense_Mutation_p.P285S			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	285					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATTAGGCTGGGAAGTGGTTCC	0.562000													5	116					0	0	0.00116845	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052277	55052277	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:55052277C>T	ENST00000474759.1	+	35	2968	c.2920C>T	c.(2920-2922)Cca>Tca	p.P974S	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P974S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P880S|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P974S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	974						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACTGAATATCCAGCATTCGT	0.473000													4	20					0	0	0.00116845	0	0
VCAN	1462	broad.mit.edu	37	5	82815771	82815771	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:82815771G>A	ENST00000265077.3	+	7	2211	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	VCAN_ENST00000512590.2_Missense_Mutation_p.G501E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G549E|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	549	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTCACTATGGATTCACCTTG	0.413000													9	88					0	0	0.000442599	0	0
CSMD1	64478	broad.mit.edu	37	8	3000022	3000022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:3000022G>A	ENST00000520002.1	-	42	6764	c.6209C>T	c.(6208-6210)tCg>tTg	p.S2070L	CSMD1_ENST00000602723.1_Missense_Mutation_p.S2070L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2070L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2070L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2069L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S2069L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2069L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2070	CUB 12.					integral to membrane		p.S2069L(1)|p.S1798L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGTTTTGCGAATGGTCACT	0.453000													6	43					0	0	0.00116845	0	0
CCDC19	25790	broad.mit.edu	37	1	159842795	159842795	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:159842795C>T	ENST00000426543.2	-	11	1716	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.E506K|RP11-190A12.7_ENST00000544342.1_Missense_Mutation_p.E4K			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	506						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTCTGGGCCTCCTCTTTGAGG	0.577000													12	70					0	0	0.000978159	0	0
MAST4	375449	broad.mit.edu	37	5	66255112	66255112	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:66255112C>T	ENST00000405643.1	+	1	415	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	MAST4_ENST00000403666.1_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000406374.1_Intron|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000407621.1_Silent_p.L13L|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000490016.2_Intron			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1102						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATTCCGGGGCTGACCTTGGA	0.458000													5	36					0	0	0.00116845	0	0
TMEM38A	79041	broad.mit.edu	37	19	16797160	16797160	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:16797160C>T	ENST00000187762.2	+	5	707	c.616C>T	c.(616-618)Cca>Tca	p.P206S		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	206						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CCGCTGGCTCCCAGTGTCCAA	0.562000													5	41					0	0	0.000602214	0	0
MAATS1	89876	broad.mit.edu	37	3	119462963	119462963	+	Missense_Mutation	SNP	C	C	T	rs139653997		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:119462963C>T	ENST00000273390.5	+	14	1899	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.R608W(1)									GCGCCAGCGGCGGGTACGAGA	0.587000													8	94					0	0	0.000274275	0	0
OBSCN	84033	broad.mit.edu	37	1	228547307	228547307	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:228547307C>T	ENST00000284548.11	+	81	18788	c.18714C>T	c.(18712-18714)acC>acT	p.T6238T	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.T3357T|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6238					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAAGAGACCATCACCACTG	0.642000													3	5					0	0	6.4e-05	0	0
MRO	83876	broad.mit.edu	37	18	48327812	48327812	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:48327812C>T	ENST00000428869.2	-	7	750	c.492G>A	c.(490-492)ggG>ggA	p.G164G	MRO_ENST00000431965.2_Intron|MRO_ENST00000256425.2_Silent_p.G164G|MRO_ENST00000436348.2_Silent_p.G178G|MRO_ENST00000588444.1_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000398439.3_Silent_p.G164G			Q9BYG7	MSTRO_HUMAN	maestro	164						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCCATTTCCTCCCGGCAAAGG	0.468000													20	126					0	0	0.000958276	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455423	187455423	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:187455423G>A	ENST00000307161.5	-	2	674	c.473C>T	c.(472-474)gCc>gTc	p.A158V	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	158					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGGCAGGACGGCCGCCAGCGT	0.602000													7	75					0	0	0.000157383	0	0
PARP14	54625	broad.mit.edu	37	3	122437232	122437232	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:122437232C>T	ENST00000474629.2	+	14	4500	c.4234C>T	c.(4234-4236)Ccc>Tcc	p.P1412S	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAAGCAATCTCCCCAAAAAAA	0.353000													13	71					0	0	0.00185496	0	0
MROH5	389690	broad.mit.edu	37	8	142481272	142481272	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:142481272C>T	ENST00000430863.1	-	0	1969					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TTGCCCAATCCTTTTGAAGTC	0.577000													17	50					0	0	0.00074312	0	0
RTDR1	27156	broad.mit.edu	37	22	23401696	23401696	+	Missense_Mutation	SNP	C	C	T	rs35881601	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:23401696C>T	ENST00000216036.4	-	7	1187	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	331							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGTAAGGCTTCGGCCACTTGA	0.582000													20	99					0	0	0.000958276	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921089	12921089	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:12921089C>T	ENST00000240189.2	+	4	967	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	294								p.P294T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCAGAACCCCTTGGAGAA	0.458000													19	120					0	0	0.00152264	0	0
PAPPA	5069	broad.mit.edu	37	9	118949912	118949912	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:118949912C>T	ENST00000328252.3	+	2	1264	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	299	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCCTGGTCCCCCATGAAGGA	0.577000													9	61					0	0	0.000274275	0	0
RNF8	9025	broad.mit.edu	37	6	37358613	37358613	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:37358613G>A	ENST00000469731.1	+	7	1406	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	RNF8_ENST00000373479.4_3'UTR			O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	0					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTCTAGCCGTGACTCCGCTGC	0.537000													13	72					0	0	0.00185496	0	0
OR10A7	121364	broad.mit.edu	37	12	55615172	55615172	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:55615172C>T	ENST00000326258.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGCTTATGATCGCTTTGTGGC	0.448000													4	24					0	0	0.00024832	0	0
VCX3A	51481	broad.mit.edu	37	X	6451806	6451806	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:6451806C>T	ENST00000381089.3	-	3	847	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	VCX3A_ENST00000398729.1_Missense_Mutation_p.E161K	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	181	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development	nucleolus				NS(1)|lung(2)|pancreas(1)	4						GGTAGTTCTTCCATCTCGCTC	0.597000													27	85					0	0	0.00178596	0	0
EVPL	2125	broad.mit.edu	37	17	74005599	74005599	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:74005599C>T	ENST00000301607.3	-	22	3940	c.3687G>A	c.(3685-3687)aaG>aaA	p.K1229K	EVPL_ENST00000586740.1_Silent_p.K1251K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1229	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTCCACCTCCTTCTCCACAC	0.627000													7	83					0	0	0.00198382	0	0
NIM1K	167359	broad.mit.edu	37	5	43280111	43280111	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:43280111G>A	ENST00000512796.1	+	4	2090	c.591G>A	c.(589-591)ctG>ctA	p.L197L	NIM1_ENST00000326035.2_Silent_p.L197L			Q8IY84	NIM1_HUMAN		197	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										ATAGAGATCTGAAAGCAGAAA	0.333000													11	47					0	0	0.000978159	0	0
DSP	1832	broad.mit.edu	37	6	7571748	7571748	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:7571748T>C	ENST00000379802.3	+	14	2175	c.1834T>C	c.(1834-1836)Ttc>Ctc	p.F612L	DSP_ENST00000418664.2_Missense_Mutation_p.F612L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	612	Globular 1.				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)		ACAGTCTCAGTTCACCGATGC	0.488000													25	95					0	0	0.000878237	0	0
ASTN1	460	broad.mit.edu	37	1	176833426	176833426	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176833426C>T	ENST00000367654.2	-	23	3916	c.3903G>A	c.(3901-3903)gaG>gaA	p.E1301E	ASTN1_ENST00000361833.2_Silent_p.E1293E|ASTN1_ENST00000367657.3_Intron			O14525	ASTN1_HUMAN	astrotactin 1	1301					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGCTAGATCTCTTTGCTGT	0.517000													14	147					0	0	0.000308642	0	0
CCER1	196477	broad.mit.edu	37	12	91348321	91348321	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:91348321G>A	ENST00000358859.2	-	1	632	c.199C>T	c.(199-201)Ccg>Tcg	p.P67S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		TGTTGCTTCGGCTGCTTCCTT	0.652000													5	32					0	0	0.000602214	0	0
TECTA	7007	broad.mit.edu	37	11	120989022	120989022	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:120989022C>T	ENST00000392793.1	+	7	1069	c.798C>T	c.(796-798)ttC>ttT	p.F266F	TECTA_ENST00000264037.2_Silent_p.F266F			O75443	TECTA_HUMAN	tectorin alpha	266	VWFC.				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)		CAGGACAATTCCTTCGGCGAG	0.473000													6	51					0	0	0.00116845	0	0
MAPK15	225689	broad.mit.edu	37	8	144803758	144803758	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:144803758C>T	ENST00000338033.4	+	12	1363	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	415					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCAGAACTCCGCTCCCCTG	0.637000													15	58					0	0	0.000422831	0	0
LAMA3	3909	broad.mit.edu	37	18	21419774	21419774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:21419774G>A	ENST00000313654.9	+	27	3458	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E1073K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1073	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGGCCCATGAAACTCCTCC	0.443000													20	90					0	0	0.00188189	0	0
AGTR2	186	broad.mit.edu	37	X	115303705	115303705	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:115303705G>A	ENST00000371906.4	+	3	362	c.172G>A	c.(172-174)Gga>Aga	p.G58R		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	58					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ATTTGTAATTGGATTTCTGGT	0.363000													6	18					0	0	0.00116845	0	0
OR2B3	442184	broad.mit.edu	37	6	29054291	29054291	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:29054291C>T	ENST00000377173.2	-	1	799	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ACACCACAATCATGTGGGACC	0.443000													5	31					0	0	0.00116845	0	0
ZNF746	155061	broad.mit.edu	37	7	149174082	149174082	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:149174082G>A	ENST00000340622.3	-	6	1049	c.769C>T	c.(769-771)Cct>Tct	p.P257S	ZNF746_ENST00000458143.2_Missense_Mutation_p.P257S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	257					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGTGGGGAGGGAGATCCGTT	0.627000													6	56					0	0	0.00116845	0	0
MTUS2	23281	broad.mit.edu	37	13	29600504	29600504	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:29600504G>A	ENST00000431530.3	+	1	1757	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	557						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGTTTTCAGGATGTTAGCGT	0.522000													14	96					0	0	0.000308642	0	0
FAM135B	51059	broad.mit.edu	37	8	139263089	139263089	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:139263089C>T	ENST00000395297.1	-	6	707	c.537G>A	c.(535-537)ttG>ttA	p.L179L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	179										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATACCTGATCAATGGCTGCT	0.562000										HNSCC(54;0.14)			16	58					0	0	0.00121646	0	0
DNAH7	56171	broad.mit.edu	37	2	196729521	196729521	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:196729521G>A	ENST00000312428.6	-	41	6958	c.6858C>T	c.(6856-6858)atC>atT	p.I2286I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2286					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCACATCTGCGATTTCTCTGT	0.378000													16	97					0	0	0.000566183	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256428	24256428	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:24256428G>A	ENST00000538205.1	+	10	1114	c.567G>A	c.(565-567)atG>atA	p.M189I	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.M268I|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.M189I|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	268					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGGTAGGTATGGAAATCTGGT	0.438000													6	27					0	0	0.00198382	0	0
FAR2	55711	broad.mit.edu	37	12	29460616	29460616	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:29460616G>A	ENST00000182377.4	+	5	839	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FAR2_ENST00000547116.1_Missense_Mutation_p.E94K|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.E191K	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	191					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TATTATTGACGAGATTACACC	0.403000													8	66					0	0	0.000442599	0	0
PADI3	51702	broad.mit.edu	37	1	17606925	17606925	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:17606925G>A	ENST00000375460.3	+	14	1675		c.e14+1			NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTTTGTGCAGGTACAAGGGCT	0.493000													8	42					0	0	0.000157383	0	0
BRCA1	672	broad.mit.edu	37	17	41223245	41223245	+	Silent	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:41223245A>G	ENST00000309486.4	-	14	4825	c.3798T>C	c.(3796-3798)ccT>ccC	p.P1266P	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Silent_p.P458P|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Silent_p.P1515P|BRCA1_ENST00000357654.3_Silent_p.P1562P|BRCA1_ENST00000471181.2_Silent_p.P1583P|BRCA1_ENST00000468300.1_Silent_p.P458P|BRCA1_ENST00000352993.3_Silent_p.P420P|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Silent_p.P379P|BRCA1_ENST00000591534.1_Silent_p.P53P	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1562					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTCCAGGTAAGGGGTTCCCT	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			18	103					0	0	0.000958276	0	0
RHO	6010	broad.mit.edu	37	3	129252474	129252474	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:129252474C>T	ENST00000296271.3	+	5	1054	c.960C>T	c.(958-960)acC>acT	p.T320T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	320					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGCTCACCACCATCTGCTGCG	0.617000													22	109					0	0	0.00229938	0	0
OR51D1	390038	broad.mit.edu	37	11	4661752	4661752	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:4661752G>A	ENST00000357605.2	+	1	808	c.732G>A	c.(730-732)cgG>cgA	p.R244R		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R244R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCCTCTCGGAGGGCAGCAC	0.527000													19	84					0	0	0.000958276	0	0
FGFR4	2264	broad.mit.edu	37	5	176519691	176519691	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:176519691G>A	ENST00000292408.4	+	8	1208	c.963G>A	c.(961-963)cgG>cgA	p.R321R	FGFR4_ENST00000292410.3_Silent_p.R321R|FGFR4_ENST00000393637.1_Silent_p.R321R|FGFR4_ENST00000502906.1_Silent_p.R321R|FGFR4_ENST00000393648.2_Silent_p.R321R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	321	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	TGTACCTGCGGAACGTGTCAG	0.642000										TSP Lung(9;0.080)			11	44					0	0	0.000978159	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513821	95513821	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:95513821G>A	ENST00000432432.2	-	0	790					NR_040113.1																						TGTCTTGAGCGAAGACATCAA	0.353000													34	348					0	0	0.000692331	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542791	133542791	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:133542791C>T	ENST00000409261.1	-	14	1966	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	NCKAP5_ENST00000317721.6_Silent_p.K531K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	531							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAGGCCTTTCCTTGGGATAAA	0.517000													26	170					0	0	0.00127121	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579992	35579992	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:35579992C>T	ENST00000373330.1	+	11	2735	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	ZMYM1_ENST00000359858.4_Missense_Mutation_p.S854F|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	854						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACATTGGTTTCCAAATTTGAA	0.343000													6	37					0	0	0.00116845	0	0
DSCAM	1826	broad.mit.edu	37	21	41684099	41684099	+	Silent	SNP	G	G	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:41684099G>T	ENST00000400454.1	-	9	2448	c.1971C>A	c.(1969-1971)tcC>tcA	p.S657S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	657	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGAGAGATTGGAAATCCTCA	0.537000													17	50					1.99824e-07	7.86876e-07	0.000566183	1	0
OXSM	54995	broad.mit.edu	37	3	25833013	25833013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:25833013C>T	ENST00000280701.3	+	2	601	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	OXSM_ENST00000420173.2_Nonsense_Mutation_p.Q168*|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	168					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTTGAATTTTCAGACAAAAGG	0.433000													10	88					0	0	0.000978159	0	0
SLC9C1	285335	broad.mit.edu	37	3	111901020	111901020	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:111901020G>A	ENST00000305815.5	-	21	2861	c.2609C>T	c.(2608-2610)cCg>cTg	p.P870L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P822L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	870					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATCTAGCCACGGAATATGATA	0.259000													12	75					0	0	0.00136819	0	0
COL6A3	1293	broad.mit.edu	37	2	238274679	238274679	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:238274679C>T	ENST00000295550.4	-	12	5953		c.e12-1		COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGATTACAAGCTGGAAAGGAG	0.512000													7	60					0	0	0.00198382	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963571	39963571	+	Splice_Site	SNP	T	T	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:39963571T>A	ENST00000599117.1	+	23	2522		c.e23+2		SUPT5H_ENST00000432763.2_Splice_Site|SUPT5H_ENST00000598725.1_Splice_Site|SUPT5H_ENST00000402194.2_Splice_Site|SUPT5H_ENST00000359191.6_Splice_Site			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)						cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTACAAAGGTGACCTGCGAG	0.677000													4	28					0	0	0.000602214	0	0
LGALS12	85329	broad.mit.edu	37	11	63283158	63283158	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:63283158C>T	ENST00000415491.2	+	7	1268	c.654C>T	c.(652-654)ttC>ttT	p.F218F	LGALS12_ENST00000340246.5_Silent_p.F280F|LGALS12_ENST00000394618.3_Silent_p.F279F|LGALS12_ENST00000255684.5_Silent_p.F270F|LGALS12_ENST00000425950.2_Silent_p.F209F	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	279	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CAGCCCCCTTCCTCTTTTACC	0.552000													6	40					0	0	0.00116845	0	0
MROH2B	133558	broad.mit.edu	37	5	41058176	41058176	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:41058176G>A	ENST00000399564.4	-	7	1195	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGAGTGACATGGAAATCAATC	0.522000													13	38					0	0	0.000566183	0	0
SPNS1	83985	broad.mit.edu	37	16	28990507	28990507	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:28990507T>A	ENST00000311008.11	+	4	853	c.476T>A	c.(475-477)cTg>cAg	p.L159Q	SPNS1_ENST00000323081.8_Missense_Mutation_p.L86Q|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.L204Q|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000334536.8_Missense_Mutation_p.L159Q|SPNS1_ENST00000352260.7_Missense_Mutation_p.L137Q	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	159					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						ACCCGGGGCCTGGTGGGGGTC	0.662000													11	69					0	0	0.00185496	0	0
C9orf96	169436	broad.mit.edu	37	9	136259426	136259426	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:136259426C>T	ENST00000371957.3	+	8	699	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	198	Protein kinase.						ATP binding|protein kinase activity	p.R198C(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGACCCCTTTCGTAAGTCCTG	0.567000													23	99					0	0	0.00278032	0	0
MEGF11	84465	broad.mit.edu	37	15	66223205	66223205	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:66223205C>T	ENST00000395614.1	-	0	1424				MEGF11_ENST00000422354.1_Missense_Mutation_p.G455D|MEGF11_ENST00000395625.2_Missense_Mutation_p.G380D|MEGF11_ENST00000360698.4_Missense_Mutation_p.G455D|MEGF11_ENST00000409699.2_Missense_Mutation_p.G455D|MEGF11_ENST00000288745.3_Missense_Mutation_p.G380D			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11							basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCAGGTGCCACCATTGTTACA	0.562000													11	66					0	0	0.00136819	0	0
F8	2157	broad.mit.edu	37	X	154128148	154128148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:154128148C>T	ENST00000360256.4	-	21	6466	c.6266G>A	c.(6265-6267)tGg>tAg	p.W2089*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2089	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AACCTTGATCCAAGAAAAGGG	0.413000													4	15					0	0	0.000602214	0	0
GMEB1	10691	broad.mit.edu	37	1	29041063	29041063	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:29041063G>A	ENST00000373816.1	+	10	1608	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	GMEB1_ENST00000361872.4_Missense_Mutation_p.M490I|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Missense_Mutation_p.M500I	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGCCATGGAGTCCGGCC	0.557000													6	47					0	0	0.000157383	0	0
DUSP27	92235	broad.mit.edu	37	1	167095846	167095846	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:167095846G>A	ENST00000361200.2	+	6	1644	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.R493Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R493Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	493					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGGCTTCCCGGAGGTACCAC	0.647000													5	46					0	0	0.000602214	0	0
LOC81691	81691	broad.mit.edu	37	16	20855312	20855312	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:20855312C>T	ENST00000261377.6	+	16	1892	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	AC004381.6_ENST00000348433.6_Intron|AC004381.6_ENST00000564274.1_Silent_p.S561S|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CCATAGAATCCTTGGATGGTA	0.473000													5	76					0	0	0.000602214	0	0
CSHL1	1444	broad.mit.edu	37	17	61987860	61987860	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:61987860G>A	ENST00000392824.4	-	2	496	c.435C>T	c.(433-435)tcC>tcT	p.S145S	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Silent_p.L76L			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GAGTCATGCAGGAATGAATAC	0.517000													10	133					0	0	0.000673444	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954429	79954429	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:79954429C>T	ENST00000306729.7	+	7	737	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.R137C|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.R214C	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	214							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGACTTGAGCCGTCCGGAGGA	0.682000			T	TFE3	alveolar soft part sarcoma								5	27					0	0	0.000602214	0	0
EFS	10278	broad.mit.edu	37	14	23828856	23828856	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:23828856C>T	ENST00000216733.3	-	4	1438	c.831G>A	c.(829-831)caG>caA	p.Q277Q	EFS_ENST00000429593.2_Silent_p.Q108Q|EFS_ENST00000351354.3_Silent_p.Q184Q	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	277	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCAGGGTGTCCTGGTCATGGG	0.706000													5	40					0	0	0.00116845	0	0
NCAPH	23397	broad.mit.edu	37	2	97017715	97017715	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:97017715C>T	ENST00000455200.1	+	7	1129	c.834C>T	c.(832-834)ctC>ctT	p.L278L	NCAPH_ENST00000240423.4_Silent_p.L289L|NCAPH_ENST00000427946.1_Silent_p.L153L			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	289					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GAGAACCTCTCGAGTTGCCAG	0.468000													11	90					0	0	0.000673444	0	0
RAB27B	5874	broad.mit.edu	37	18	52546599	52546599	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:52546599G>A	ENST00000262094.5	+	3	674		c.e3-1		RAB27B_ENST00000586594.1_Splice_Site	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GTATCTTTCAGGTTTATAATG	0.388000													6	36					0	0	0.000157383	0	0
ABHD17A	81926	broad.mit.edu	37	19	1881333	1881333	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:1881333T>C	ENST00000292577.7	-	2	666	c.233A>G	c.(232-234)tAc>tGc	p.Y78C	ABHD17A_ENST00000250974.9_Missense_Mutation_p.Y78C|ABHD17A_ENST00000590661.1_Missense_Mutation_p.Y78C	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A																		GCGCTGGCTGTACTGGAAGTC	0.706000													6	37					0	0	0.000978159	0	0
LCT	3938	broad.mit.edu	37	2	136566592	136566592	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:136566592C>T	ENST00000264162.2	-	8	3335	c.3325G>A	c.(3325-3327)Gat>Aat	p.D1109N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1109	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TATTTCTCATCGTACGTGTGA	0.582000													8	74					0	0	0.000157383	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													4	17					0	0	0.00024832	0	0
BYSL	705	broad.mit.edu	37	6	41889369	41889369	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:41889369C>T	ENST00000230340.4	+	1	444	c.69C>T	c.(67-69)atC>atT	p.I23I		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	23					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGATCAGATCCTGGCTGGGA	0.652000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	36					0	0	0.000274275	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050235	120050235	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:120050235G>A	ENST00000235547.6	+	2	281	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	HSD3B1_ENST00000369413.3_Missense_Mutation_p.E46K|HSD3B1_ENST00000528909.1_Missense_Mutation_p.E46K	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	46					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATTGAGAGAGGAATTTTCTAG	0.478000													16	89					0	0	0.00074312	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347827	38347827	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:38347827C>T	ENST00000273173.4	+	1	401	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	SLC22A14_ENST00000448498.1_Silent_p.L104L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	104						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CAGCTGGATCCTGGCAGTGGG	0.537000													11	84					0	0	0.000673444	0	0
ABCC6	368	broad.mit.edu	37	16	16278870	16278870	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:16278870G>C	ENST00000205557.7	-	15	1918	c.1889C>G	c.(1888-1890)aCc>aGc	p.T630S	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	630	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ACTGTGTATGGTGATGCAATC	0.602000													9	68					0	0	0.000673444	0	0
LPAR3	23566	broad.mit.edu	37	1	85331090	85331090	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:85331090C>T	ENST00000440886.1	-	1	752	c.714G>A	c.(712-714)atG>atA	p.M238I	LPAR3_ENST00000370611.3_Missense_Mutation_p.M238I|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	238					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCACCGTCTTCATTAGCTTCA	0.507000													6	33					0	0	0.00116845	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19216515	19216515	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:19216515G>A	ENST00000375341.3	-	2	404	c.147C>T	c.(145-147)gcC>gcT	p.A49A	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_5'UTR|ALDH4A1_ENST00000538839.1_Silent_p.A49A|ALDH4A1_ENST00000290597.5_Silent_p.A49A	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	49					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CCTTTTGCAGGGCATCTCGCT	0.652000													4	19					0	0	0.000602214	0	0
NPLOC4	55666	broad.mit.edu	37	17	79573813	79573813	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:79573813G>A	ENST00000374747.5	-	7	687	c.558C>T	c.(556-558)atC>atT	p.I186I	NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000539314.1_Silent_p.I25I|NPLOC4_ENST00000331134.6_Silent_p.I186I			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	186					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTTGCAGCTGATGTTCTCCA	0.507000													4	21					0	0	0.00024832	0	0
AOC1	26	broad.mit.edu	37	7	150558086	150558086	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:150558086T>C	ENST00000493429.1	+	7	2629	c.2045T>C	c.(2044-2046)aTt>aCt	p.I682T	AOC1_ENST00000416793.2_Missense_Mutation_p.I701T|AOC1_ENST00000467291.1_Missense_Mutation_p.I682T|AOC1_ENST00000360937.4_Missense_Mutation_p.I682T|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		TCAGAGGACATTCCCAACACA	0.617000													6	52					0	0	0.00116845	0	0
PDIA4	9601	broad.mit.edu	37	7	148701084	148701084	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:148701084G>A	ENST00000286091.4	-	10	1972	c.1740C>T	c.(1738-1740)atC>atT	p.I580I		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	580	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCATCTTGGCGATGACCAGGC	0.597000													11	65					0	0	0.000978159	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552966	140552966	+	Missense_Mutation	SNP	G	G	A	rs146757937		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140552966G>A	ENST00000231137.3	+	1	724	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGTCCATGATAGCGGGGA	0.478000													9	46					0	0	0.000274275	0	0
ZNF507	22847	broad.mit.edu	37	19	32844579	32844579	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:32844579T>G	ENST00000311921.3	+	2	1035	c.843T>G	c.(841-843)ttT>ttG	p.F281L	ZNF507_ENST00000544431.1_Missense_Mutation_p.F281L|ZNF507_ENST00000355898.5_Missense_Mutation_p.F281L|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATCCAATCTTTGAAAATGAAA	0.473000													16	102					0	0	0.000308642	0	0
RBM41	55285	broad.mit.edu	37	X	106332042	106332042	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:106332042T>A	ENST00000372487.1	-	5	577	c.551A>T	c.(550-552)gAt>gTt	p.D184V	RBM41_ENST00000203616.8_Missense_Mutation_p.D208V|RBM41_ENST00000372479.3_Missense_Mutation_p.D184V	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	184							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GTTCATGGGATCACCTTTGTT	0.373000													11	42					0	0	0.00185496	0	0
MICALCL	84953	broad.mit.edu	37	11	12315279	12315279	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:12315279G>A	ENST00000256186.2	+	3	592	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	101	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCCTGGTGAAGATGGCCTCTC	0.597000													13	100					0	0	0.00136819	0	0
CCDC54	84692	broad.mit.edu	37	3	107096457	107096457	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:107096457G>A	ENST00000261058.1	+	1	270	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	8										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CACACCAAAAGGGTAAAAGCT	0.398000													11	72					0	0	0.00185496	0	0
ATG2B	55102	broad.mit.edu	37	14	96761443	96761443	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:96761443C>T	ENST00000359933.4	-	36	6173	c.5280G>A	c.(5278-5280)aaG>aaA	p.K1760K	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1760										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATTTGGCTCCTTTGAGGTAC	0.408000													13	84					0	0	0.00244969	0	0
HOXA3	3200	broad.mit.edu	37	7	27148122	27148122	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:27148122C>T	ENST00000396352.4	-	3	943	c.744G>A	c.(742-744)aaG>aaA	p.K248K	HOXA3_ENST00000317201.2_Silent_p.K248K|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	248					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCTTCTGATCCTTTTTGTACT	0.597000													20	82					0	0	0.00121646	0	0
SCN5A	6331	broad.mit.edu	37	3	38603945	38603945	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:38603945G>A	ENST00000413689.1	-	22	4117	c.3924C>T	c.(3922-3924)ctC>ctT	p.L1308L	SCN5A_ENST00000425664.1_Silent_p.L1308L|SCN5A_ENST00000449557.2_Silent_p.L1254L|SCN5A_ENST00000423572.2_Silent_p.L1307L|SCN5A_ENST00000451551.2_Silent_p.L1254L|SCN5A_ENST00000450102.2_Silent_p.L1254L|SCN5A_ENST00000455624.2_Silent_p.L1307L|SCN5A_ENST00000443581.1_Silent_p.L1307L|SCN5A_ENST00000414099.2_Silent_p.L1308L|SCN5A_ENST00000333535.4_Silent_p.L1308L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1308			L -> F (associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCAGAGGACGGAGTGCACGCA	0.637000													4	17					0	0	0.00024832	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56779477	56779477	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:56779477C>T	ENST00000413728.2	-	7	1187	c.644G>A	c.(643-645)aGc>aAc	p.S215N	ARHGEF3_ENST00000495373.1_Missense_Mutation_p.S209N|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.S180N|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.S215N|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.S209N|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.S241N	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	209	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ATCATAGGAGCTGAGGCAAGG	0.458000													19	112					0	0	0.00121646	0	0
TRIM2	23321	broad.mit.edu	37	4	154217084	154217084	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:154217084G>A	ENST00000338700.5	+	6	1471	c.1406G>A	c.(1405-1407)gGg>gAg	p.G469E	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.G442E	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	442						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AAGTCCCCGGGGAGCGGCCAC	0.537000													9	37					0	0	0.000442599	0	0
RYR1	6261	broad.mit.edu	37	19	38948139	38948139	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:38948139C>T	ENST00000355481.4	+	17	1925	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	RYR1_ENST00000359596.3_Silent_p.V598V|RYR1_ENST00000360985.3_Silent_p.V598V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	598	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCTCTAGGTCCTGGACGTGC	0.552000													41	178					0	0	0.000781405	0	0
HEATR3	55027	broad.mit.edu	37	16	50102755	50102755	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:50102755C>T	ENST00000299192.7	+	3	567	c.376C>T	c.(376-378)Cct>Tct	p.P126S	HEATR3_ENST00000285767.4_Missense_Mutation_p.P40S	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	126							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TATCATGACCCCTCTGGTTGC	0.378000													12	181					0	0	0.000308642	0	0
TRIM33	51592	broad.mit.edu	37	1	114964156	114964156	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:114964156G>C	ENST00000358465.2	-	11	2046	c.1963C>G	c.(1963-1965)Cga>Gga	p.R655G	TRIM33_ENST00000369543.2_Missense_Mutation_p.R655G|TRIM33_ENST00000450349.2_Missense_Mutation_p.R263G	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	655					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGGACCTCGGTTTGCATTT	0.507000			T	RET	papillary thyroid								19	82					0	0	0.000958276	0	0
CEACAM1	634	broad.mit.edu	37	19	43031406	43031406	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:43031406C>T	ENST00000161559.6	-	2	345	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.E71K|CEACAM1_ENST00000308072.4_Missense_Mutation_p.E31K|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.E71K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.E71K|CEACAM1_ENST00000599389.1_Missense_Mutation_p.E71K|CEACAM1_ENST00000358394.3_Missense_Mutation_p.E71K|CEACAM1_ENST00000403461.1_Missense_Mutation_p.E71K	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	71	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TCCACTCTTTCCCCTTTGTAC	0.493000													8	200					0	0	0.000673444	0	0
ASTN1	460	broad.mit.edu	37	1	176983946	176983946	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176983946C>T	ENST00000367654.2	-	8	1541	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E502K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.E502K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E502K			O14525	ASTN1_HUMAN	astrotactin 1	510					cell migration|neuron cell-cell adhesion	integral to membrane		p.E502K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCCCCATTCGTTCCGAATG	0.493000													56	252					0	0	0.000781405	0	0
YOD1	55432	broad.mit.edu	37	1	207222387	207222387	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:207222387T>C	ENST00000367084.1	-	4	1097	c.893A>G	c.(892-894)cAt>cGt	p.H298R	YOD1_ENST00000315927.4_Missense_Mutation_p.H342R|YOD1_ENST00000391927.1_Missense_Mutation_p.H298R	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	342					cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					AAAGTTGGTATGGCCTGTCTC	0.468000													19	174					0	0	0.00229938	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868460	22868460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:22868460G>A	ENST00000302097.3	-	2	1747	c.1495C>T	c.(1495-1497)Cag>Tag	p.Q499*		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATCCTGGCTGAACTGAAGTT	0.413000													9	76					0	0	0.000274275	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:61802491C>T	ENST00000280772.1	-	43	13283	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_ENST00000373827.2_Silent_p.T1848T|ANK3_ENST00000503366.1_Silent_p.T1855T|ANK3_ENST00000355288.2_Silent_p.T988T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4364					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTTTCTTCGTTTTCACCT	0.398000													13	94					0	0	0.00185496	0	0
ASIC2	40	broad.mit.edu	37	17	31439043	31439043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:31439043C>T	ENST00000225823.2	-	2	1623	c.751G>A	c.(751-753)Gag>Aag	p.E251K	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Missense_Mutation_p.E200K|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	200					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TTGCCATCCTCGCCTGAGTTA	0.532000													6	38					0	0	0.00116845	0	0
GORASP2	26003	broad.mit.edu	37	2	171819405	171819405	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:171819405C>T	ENST00000234160.4	+	9	1782	c.967C>T	c.(967-969)Cca>Tca	p.P323S	GORASP2_ENST00000452526.2_Missense_Mutation_p.P335S|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	323	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CCTCAACCTCCCAGCACCACA	0.473000													8	44					0	0	0.000978159	0	0
NUP210L	91181	broad.mit.edu	37	1	154033425	154033425	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:154033425T>G	ENST00000368559.3	-	19	2812	c.2741A>C	c.(2740-2742)gAt>gCt	p.D914A	NUP210L_ENST00000271854.3_Missense_Mutation_p.D914A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	914						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TACCTTTACATCAGGGTGGTT	0.368000													16	133					0	0	0.000566183	0	0
EGFL6	25975	broad.mit.edu	37	X	13636018	13636018	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:13636018C>T	ENST00000361306.1	+	8	1205	c.948C>T	c.(946-948)ttC>ttT	p.F316F	EGFL6_ENST00000380602.3_Silent_p.F316F	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	316					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	p.F316L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGCAGCCCTTCAACTATGAAG	0.433000													22	36					0	0	0.000720815	0	0
TSC1	7248	broad.mit.edu	37	9	135777078	135777078	+	Silent	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:135777078C>A	ENST00000298552.3	-	19	2621	c.2400G>T	c.(2398-2400)ctG>ctT	p.L800L	TSC1_ENST00000440111.2_Silent_p.L800L|TSC1_ENST00000545250.1_Silent_p.L749L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	800					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGCAGTCCTCCAGCTTCGTCT	0.537000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	180					0.00116845	0.00453961	0.00116845	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798785	55798785	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:55798785G>A	ENST00000313555.1	+	1	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACAAGGATGTGAAAAATGCTC	0.313000													6	43					0	0	0.00116845	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004550	75004550	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:75004550C>T	ENST00000373359.2	-	1	529	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	113	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCAGCATCTCGGACTGCTGG	0.532000													10	15					0	0	0.000442599	0	0
COL13A1	1305	broad.mit.edu	37	10	71654450	71654450	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:71654450G>A	ENST00000356340.3	+	10	1159	c.623G>A	c.(622-624)gGa>gAa	p.G208E	COL13A1_ENST00000398978.3_Missense_Mutation_p.G208E|COL13A1_ENST00000357811.3_Missense_Mutation_p.G208E|COL13A1_ENST00000354547.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398966.3_Missense_Mutation_p.G208E|COL13A1_ENST00000522165.1_Missense_Mutation_p.G208E|COL13A1_ENST00000398964.3_Missense_Mutation_p.G179E|COL13A1_ENST00000398969.3_Missense_Mutation_p.G170E|COL13A1_ENST00000520267.1_Missense_Mutation_p.G170E|COL13A1_ENST00000398974.3_Missense_Mutation_p.G196E|COL13A1_ENST00000517713.1_Missense_Mutation_p.G208E|COL13A1_ENST00000398968.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398973.3_Missense_Mutation_p.G208E|COL13A1_ENST00000520133.1_Missense_Mutation_p.G179E|COL13A1_ENST00000398972.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398971.3_Missense_Mutation_p.G208E			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	208	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.G191E(1)|p.G208E(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGACAAAAAGGAGAAAAGGTA	0.463000													14	55					0	0	0.000958276	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28327191	28327191	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:28327191C>T	ENST00000284987.5	-	2	1226		c.e2-1			NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5						proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACATAAATCCTGCCCAGGAG	0.478000													12	29					0	0	0.00136819	0	0
DNAH7	56171	broad.mit.edu	37	2	196759936	196759936	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:196759936C>T	ENST00000312428.6	-	30	4760	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1554					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAAACAAATCCGAAGTAATT	0.313000													7	23					0	0	0.00198382	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:22473063C>T	ENST00000557788.2	-	0	207																											TGATAGATTTCCCCAATCCAC	0.567000													14	156					0	0	0.00244969	0	0
SLC13A4	26266	broad.mit.edu	37	7	135375975	135375975	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:135375975C>T	ENST00000354042.4	-	13	2106	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	473						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGAGCATAGCCTCCCCCAACC	0.507000													6	70					0	0	0.00198382	0	0
ZNF318	24149	broad.mit.edu	37	6	43323411	43323411	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:43323411G>A	ENST00000361428.2	-	4	1738	c.1661C>T	c.(1660-1662)cCc>cTc	p.P554L	ZNF318_ENST00000318149.3_Missense_Mutation_p.P554L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	554					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTCCCAAGGGGCTTTGGTAC	0.478000													33	181					0	0	0.0024448	0	0
CCDC178	374864	broad.mit.edu	37	18	30873194	30873194	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:30873194C>T	ENST00000383096.3	-	12	1287	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	CCDC178_ENST00000403303.1_Missense_Mutation_p.E369K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E369K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E369K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.E369K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E369K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E369K					coiled-coil domain containing 178																		ACTTCCTCTTCCTTCTCCTCA	0.294000													5	18					0	0	0.000602214	0	0
ZNF483	158399	broad.mit.edu	37	9	114305057	114305057	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:114305057G>A	ENST00000309235.5	+	6	2000	c.1842G>A	c.(1840-1842)atG>atA	p.M614I	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	614					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTGCGGAATGACTTTTAGCC	0.408000													4	33					0	0	0.00024832	0	0
LRP1B	53353	broad.mit.edu	37	2	141986887	141986887	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:141986887C>T	ENST00000389484.3	-	6	1686	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	239					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAATAAAATCCAGAGTATGA	0.294000										TSP Lung(27;0.18)			6	35					0	0	0.00116845	0	0
EDC4	23644	broad.mit.edu	37	16	67916928	67916928	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:67916928G>A	ENST00000358933.5	+	27	3936	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	CTC-479C5.10_ENST00000572067.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1233					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCGCTCAAGGAGCAGCAGGC	0.607000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	37					0	0	0.00116845	0	0
GRM8	2918	broad.mit.edu	37	7	126086134	126086134	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:126086134G>A	ENST00000358373.3	-	10	3286	c.2723C>T	c.(2722-2724)tCc>tTc	p.S908F	GRM8_ENST00000339582.2_Intron|GRM8_ENST00000444921.2_Intron	NM_001127323.1	NP_001120795.1	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	0					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CATCTATTAGGAAGTGCTCCC	0.458000										HNSCC(24;0.065)			3	16					0	0	6.4e-05	0	0
PRG4	10216	broad.mit.edu	37	1	186276833	186276833	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:186276833C>T	ENST00000445192.2	+	7	2027	c.1982C>T	c.(1981-1983)cCt>cTt	p.P661L	PRG4_ENST00000367486.3_Missense_Mutation_p.P618L|PRG4_ENST00000367483.4_Missense_Mutation_p.P620L|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P568L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	661	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCACCACCCCTGAGGAGCCT	0.667000													10	31					0	0	0.000442599	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967211	106967211	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:106967211C>T	ENST00000390622.2	-	0	492																											TCCACTCAAGCCCTTGTCCAG	0.552000													15	91					0	0	0.000308642	0	0
CLDN4	1364	broad.mit.edu	37	7	73245625	73245625	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:73245625G>A	ENST00000435050.1	+	2	2774	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	CLDN4_ENST00000340958.2_Missense_Mutation_p.V32M|CLDN4_ENST00000431918.1_Missense_Mutation_p.V32M			O14493	CLD4_HUMAN	claudin 4	32					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CATGTGGCGCGTGACGGCCTT	0.632000													8	50					0	0	0.000157383	0	0
PAPL	390928	broad.mit.edu	37	19	39589716	39589716	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:39589716C>T	ENST00000331256.5	+	4	713	c.439C>T	c.(439-441)Ccg>Tcg	p.P147S	PAPL_ENST00000594229.1_Missense_Mutation_p.P147S	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		147						extracellular region	acid phosphatase activity|metal ion binding										GGCTGACAACCCGAAGGCCGT	0.687000													12	92					0	0	0.000308642	0	0
SYT8	90019	broad.mit.edu	37	11	1858224	1858224	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:1858224G>A	ENST00000341958.3	+	7	1130	c.828G>A	c.(826-828)agG>agA	p.R276R	SYT8_ENST00000381968.3_Silent_p.R290R|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	290	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGAACCAGAGGAAGTGGAAGA	0.632000													12	56					0	0	0.000978159	0	0
MICAL3	57553	broad.mit.edu	37	22	18364025	18364025	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:18364025G>A	ENST00000429452.1	-	17	2638	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	MICAL3_ENST00000585038.1_Silent_p.I762I|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000383094.3_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1249	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGACAGGGTGATCACTTTTT	0.547000													22	142					0	0	0.000586117	0	0
IGSF21	84966	broad.mit.edu	37	1	18554492	18554492	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:18554492C>T	ENST00000251296.1	+	2	554	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	57	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGCGGGAGATCGTGTGGTACC	0.587000													7	49					0	0	0.000157383	0	0
SCN10A	6336	broad.mit.edu	37	3	38755522	38755522	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:38755522G>A	ENST00000449082.2	-	21	3730	c.3731C>T	c.(3730-3732)gCt>gTt	p.A1244V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1244					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTGATGGGAGCCACTTCAGA	0.502000													14	102					0	0	0.000308642	0	0
IFNE	338376	broad.mit.edu	37	9	21481125	21481125	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:21481125C>T	ENST00000448696.3	-	1	1187	c.569G>A	c.(568-570)gGa>gAa	p.G190E	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	190					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						CAAGGGTCTTCCTTGTTTGCT	0.473000													18	140					0	0	0.000958276	0	0
SPHKAP	80309	broad.mit.edu	37	2	228858297	228858297	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:228858297C>T	ENST00000392056.3	-	9	4720	c.4674G>A	c.(4672-4674)atG>atA	p.M1558I	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1558						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTCCAGATCCATAATGCCAA	0.443000													3	9					0	0	0.00024832	0	0
CACNB2	783	broad.mit.edu	37	10	18825093	18825093	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:18825093G>A	ENST00000396576.2	+	11	1606	c.1105G>A	c.(1105-1107)Gta>Ata	p.V369I	CACNB2_ENST00000324631.7_Missense_Mutation_p.V424I|CACNB2_ENST00000377331.2_Missense_Mutation_p.V372I|CACNB2_ENST00000377329.4_Missense_Mutation_p.V370I|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.V174I|CACNB2_ENST00000352115.6_Missense_Mutation_p.V400I|CACNB2_ENST00000377315.4_Missense_Mutation_p.V376I|CACNB2_ENST00000282343.8_Missense_Mutation_p.V396I|CACNB2_ENST00000377319.3_Missense_Mutation_p.V331I	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	424					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGTCCAGATGGTAGCAGCTGA	0.333000													4	22					0	0	0.00024832	0	0
SYCP1	6847	broad.mit.edu	37	1	115399263	115399263	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:115399263G>A	ENST00000369522.3	+	3	418	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E60K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	60	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		CAAAAATGGGGAAAACATTGA	0.318000													9	67					0	0	0.000978159	0	0
CD93	22918	broad.mit.edu	37	20	23065859	23065859	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:23065859T>A	ENST00000246006.4	-	1	1118	c.971A>T	c.(970-972)aAa>aTa	p.K324I		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	324	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGTGTAGTTTTTCCCATGGGG	0.637000													5	51					0	0	0.000602214	0	0
WTIP	126374	broad.mit.edu	37	19	34981317	34981317	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:34981317C>T	ENST00000590071.2	+	2	1041	c.704C>T	c.(703-705)gCc>gTc	p.A235V	WTIP_ENST00000270288.6_Missense_Mutation_p.A459V	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCTACGGAGCCCAGCAGGCG	0.587000													6	60					0	0	0.00198382	0	0
OR14K1	343170	broad.mit.edu	37	1	247902183	247902183	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:247902183C>T	ENST00000283225.2	+	1	267	c.267C>T	c.(265-267)tcC>tcT	p.S89S	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CCACTGACTCCATCTCCTTCC	0.507000													8	37					0	0	0.000274275	0	0
FOCAD	54914	broad.mit.edu	37	9	20926395	20926395	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:20926395A>T	ENST00000380249.1	+	28	3421	c.3057A>T	c.(3055-3057)caA>caT	p.Q1019H	FOCAD_ENST00000338382.6_Missense_Mutation_p.Q1019H|FOCAD_ENST00000605086.1_Missense_Mutation_p.Q455H	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1019						integral to membrane	binding										CCAGAGGGCAACTTCTCTCCT	0.373000													14	70					0	0	0.00244969	0	0
NUP35	129401	broad.mit.edu	37	2	184024281	184024281	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:184024281C>T	ENST00000295119.4	+	8	907	c.804C>T	c.(802-804)atC>atT	p.I268I	NUP35_ENST00000541912.1_Silent_p.I133I|NUP35_ENST00000409798.1_Silent_p.I251I	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	268					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						CACCACCAATCAAAACTCTAG	0.398000													8	53					0	0	0.000157383	0	0
C2CD2	25966	broad.mit.edu	37	21	43342110	43342110	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:43342110C>T	ENST00000380486.3	-	3	704	c.463G>A	c.(463-465)Gac>Aac	p.D155N	C2CD2_ENST00000329623.7_5'UTR	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	155						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGCCGCATGTCGTACAGCCGG	0.542000													10	35					0	0	0.00244969	0	0
TPSD1	23430	broad.mit.edu	37	16	1306606	1306606	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:1306606C>T	ENST00000211076.3	+	2	320	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	TPSD1_ENST00000397534.2_Missense_Mutation_p.R51C	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CCTGAGAGTCCGCGGCCCATA	0.692000													15	77					0	0	0.000422831	0	0
OS9	10956	broad.mit.edu	37	12	58110498	58110498	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:58110498C>T	ENST00000315970.7	+	9	1057	c.1016C>T	c.(1015-1017)gCa>gTa	p.A339V	OS9_ENST00000389146.6_Missense_Mutation_p.A339V|OS9_ENST00000551035.1_Missense_Mutation_p.A307V|OS9_ENST00000389142.5_Missense_Mutation_p.A339V|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.A339V|OS9_ENST00000257966.8_Missense_Mutation_p.A340V|OS9_ENST00000435406.2_Missense_Mutation_p.A287V|OS9_ENST00000413095.2_Intron|OS9_ENST00000439210.2_Missense_Mutation_p.A280V	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	339					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGCCCTGAGGCAGCAGATTCA	0.507000													15	109					0	0	0.000566183	0	0
FAM3C	10447	broad.mit.edu	37	7	121004237	121004237	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:121004237A>C	ENST00000359943.3	-	6	491	c.278T>G	c.(277-279)aTg>aGg	p.M93R		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	93					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					AACACCACTCATTAAACTGAA	0.279000													23	38					0	0	0.000720815	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129688901	129688901	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:129688901G>A	ENST00000358303.4	-	2	314	c.230C>T	c.(229-231)gCc>gTc	p.A77V	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A56V|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A77V|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A77V	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	77					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCTAAAGAAGGCTTCTTTGCT	0.413000													13	145					0	0	0.00185496	0	0
SLC35F5	80255	broad.mit.edu	37	2	114501364	114501364	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:114501364G>A	ENST00000245680.2	-	6	901	c.488C>T	c.(487-489)cCt>cTt	p.P163L	SLC35F5_ENST00000409342.1_Missense_Mutation_p.P157L	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	163					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CACATACAGAGGTTCACTCTG	0.323000													20	118					0	0	0.00188189	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22855144	22855144	+	Silent	SNP	C	C	T	rs61738868	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:22855144C>T	ENST00000283645.4	+	13	1735	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	TUBGCP5_ENST00000453949.2_Silent_p.S535S|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	535					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTGCGAGTTCCGGCAGTGACC	0.478000													12	48					0	0	0.00136819	0	0
EPHB2	2048	broad.mit.edu	37	1	23191389	23191389	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:23191389G>A	ENST00000400191.3	+	5	1005	c.987G>A	c.(985-987)caG>caA	p.Q329Q	EPHB2_ENST00000374632.3_Silent_p.Q329Q|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.Q329Q|EPHB2_ENST00000544305.1_Silent_p.Q329Q|EPHB2_ENST00000374627.1_Silent_p.Q323Q	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	329	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCGCGCCCCAGGCTGTGATTT	0.637000													17	67					0	0	0.000566183	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530614	5530614	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:5530614C>T	ENST00000311659.4	-	2	322	c.175G>A	c.(175-177)Gat>Aat	p.D59N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	59	Ubiquitin-like.							p.D59N(1)		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)		ACAAGCTGATCGGGGTGGGCC	0.502000													23	140					0	0	0.000586117	0	0
IMPAD1	54928	broad.mit.edu	37	8	57878841	57878841	+	Silent	SNP	G	G	A	rs141898546	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:57878841G>A	ENST00000262644.4	-	4	975	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	239						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GAGACACAACGATCCTTGGGG	0.458000													21	73					0	0	0.00152264	0	0
OR6C2	341416	broad.mit.edu	37	12	55846720	55846720	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:55846720C>T	ENST00000322678.1	+	1	723	c.723C>T	c.(721-723)tcC>tcT	p.S241S	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTGTTCATCCCACATGATTG	0.418000													6	52					0	0	0.00116845	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664746	5664746	+	Missense_Mutation	SNP	C	C	T	rs148404455	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:5664746C>T	ENST00000354852.5	+	14	2509	c.2336C>T	c.(2335-2337)tCc>tTc	p.S779F	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.S425F|TRIM34_ENST00000429814.2_Missense_Mutation_p.S425F|TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000514226.1_Missense_Mutation_p.S425F	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		779						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TTGACTCTCTCCATGGCTGTG	0.458000													15	90					0	0	0.000308642	0	0
ERCC4	2072	broad.mit.edu	37	16	14029275	14029275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:14029275C>T	ENST00000311895.7	+	8	1495	c.1486C>T	c.(1486-1488)Caa>Taa	p.Q496*	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	496					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GACCTTAACTCAAATGGTAGG	0.428000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	17					0	0	0.00024832	0	0
OR51F1	256892	broad.mit.edu	37	11	4790962	4790962	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:4790962A>T	ENST00000380383.1	-	1	206	c.207T>A	c.(205-207)taT>taA	p.Y69*	OR51F1_ENST00000343430.3_Nonsense_Mutation_p.Y62*|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	62						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGAGGAAATAATACATGGGTT	0.448000													7	24					0	0	0.000157383	0	0
XIRP2	129446	broad.mit.edu	37	2	168100390	168100390	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:168100390A>T	ENST00000409195.1	+	9	2577	c.2488A>T	c.(2488-2490)Aag>Tag	p.K830*	XIRP2_ENST00000409273.1_Nonsense_Mutation_p.K608*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.K830*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	655					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATCATTGAAAAGGAAAAAAT	0.383000													7	53					0	0	0.000157383	0	0
SMG5	23381	broad.mit.edu	37	1	156233251	156233251	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:156233251G>A	ENST00000361813.5	-	13	2110	c.1966C>T	c.(1966-1968)Cct>Tct	p.P656S	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	656					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCACAGCAGGAAGCAGACCT	0.602000													7	95					0	0	0.000157383	0	0
NPTX2	4885	broad.mit.edu	37	7	98254457	98254457	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:98254457C>T	ENST00000265634.3	+	3	1032	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	289	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.I289I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAACCCCATCGAGCTGCTCA	0.662000													14	69					0	0	0.000308642	0	0
PLP1	5354	broad.mit.edu	37	X	103042837	103042837	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:103042837C>T	ENST00000418604.1	+	5	844	c.564C>T	c.(562-564)gcC>gcT	p.A188A	PLP1_ENST00000361621.2_Silent_p.A153A|PLP1_ENST00000303958.2_Silent_p.A188A|PLP1_ENST00000466486.1_3'UTR	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	188					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGTCTATTGCCTTCCCCAGCA	0.537000													6	46					0	0	0.000274275	0	0
RTEL1	51750	broad.mit.edu	37	20	62316916	62316916	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:62316916C>T	ENST00000318100.4	+	15	2059	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	RTEL1_ENST00000508582.2_Missense_Mutation_p.S435F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S411F|RTEL1_ENST00000370018.3_Missense_Mutation_p.S411F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S411F			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	411					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGCCCTGGTTCCCCAGCAGGG	0.652000													10	36					0	0	0.00244969	0	0
CACNA1C	775	broad.mit.edu	37	12	2224601	2224601	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:2224601G>A	ENST00000399655.1	+	2	526	c.261G>A	c.(259-261)ggG>ggA	p.G87G	CACNA1C_ENST00000335762.5_Silent_p.G87G|CACNA1C_ENST00000399641.1_Silent_p.G87G|CACNA1C_ENST00000344100.3_Silent_p.G87G|CACNA1C_ENST00000399617.1_Silent_p.G87G|CACNA1C_ENST00000399621.1_Silent_p.G87G|CACNA1C_ENST00000399606.1_Silent_p.G87G|CACNA1C_ENST00000399597.1_Silent_p.G87G|CACNA1C_ENST00000402845.3_Silent_p.G87G|CACNA1C_ENST00000480911.1_Silent_p.G87G|CACNA1C_ENST00000399603.1_Silent_p.G87G|CACNA1C_ENST00000347598.4_Silent_p.G87G|CACNA1C_ENST00000327702.7_Silent_p.G87G|CACNA1C_ENST00000399629.1_Silent_p.G87G|CACNA1C_ENST00000399601.1_Silent_p.G87G|CACNA1C_ENST00000399591.1_Silent_p.G87G|CACNA1C_ENST00000406454.3_Silent_p.G87G|CACNA1C_ENST00000399634.1_Silent_p.G87G|CACNA1C_ENST00000399644.1_Silent_p.G87G|CACNA1C_ENST00000399595.1_Silent_p.G87G|CACNA1C_ENST00000399649.1_Silent_p.G87G|CACNA1C_ENST00000399637.1_Silent_p.G87G|CACNA1C_ENST00000399638.1_Silent_p.G87G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	87					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCAATATGGGAAACCCAAGA	0.657000													8	37					0	0	0.000157383	0	0
ERCC6	2074	broad.mit.edu	37	10	50740648	50740648	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:50740648G>T	ENST00000355832.5	-	2	441	c.363C>A	c.(361-363)agC>agA	p.S121R	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.S121R|PGBD3_ENST00000603152.1_Missense_Mutation_p.S121R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.S121R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	121					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGGAGGCACGGCTGGCCTCAT	0.572000								Direct reversal of damage;Nucleotide excision repair (NER)					7	65					5.18039e-06	2.03536e-05	0.000157383	1	0
OC90	729330	broad.mit.edu	37	8	133044207	133044207	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:133044207G>A	ENST00000262283.5	-	16	1687	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	OC90_ENST00000443356.2_Missense_Mutation_p.R334W|OC90_ENST00000603859.1_Missense_Mutation_p.R318W|OC90_ENST00000254627.3_Missense_Mutation_p.R318W			Q02509	OC90_HUMAN	otoconin 90	334					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCCGGGCACCGGGATGTCAGA	0.542000													11	81					0	0	0.000978159	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130288957	130288957	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:130288957G>A	ENST00000257359.6	-	2	1657	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	317	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCTGTCTGGTGAGCAGGATGG	0.622000													14	118					0	0	0.00244969	0	0
PCDH18	54510	broad.mit.edu	37	4	138452842	138452842	+	Missense_Mutation	SNP	G	G	A	rs143505708	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:138452842G>A	ENST00000344876.4	-	1	787	c.401C>T	c.(400-402)tCt>tTt	p.S134F	PCDH18_ENST00000412923.2_Missense_Mutation_p.S134F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	134	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAACTGGGGAGAATTGTCATT	0.433000													4	22					0	0	0.00024832	0	0
OR5H1	26341	broad.mit.edu	37	3	97851905	97851905	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:97851905C>T	ENST00000354565.2	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGCATATGATCGCTATGTAGC	0.393000													6	58					0	0	0.00198382	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12980108	12980108	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:12980108G>A	ENST00000361079.2	+	4	1383	c.1300G>A	c.(1300-1302)Gct>Act	p.A434T						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACTTGGGGCTGAGCTGAT	0.587000													14	35					0	0	0.000422831	0	0
GSTM5	2949	broad.mit.edu	37	1	110256339	110256339	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:110256339G>A	ENST00000369813.1	+	3	1098	c.193G>A	c.(193-195)Gat>Aat	p.D65N	GSTM5_ENST00000256593.3_Missense_Mutation_p.D106N|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Missense_Mutation_p.D125N			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	106	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCAGGTTATGGATAACCACAT	0.522000													4	30					0	0	0.00024832	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451457	22451457	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:22451457G>A	ENST00000325870.1	+	2	1287	c.1062G>A	c.(1060-1062)ggG>ggA	p.G354G		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	354					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCTGCAAAGGGGATGTGGTCC	0.458000													6	29					0	0	0.00198382	0	0
SPTA1	6708	broad.mit.edu	37	1	158607893	158607893	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158607893C>T	ENST00000368148.3	-	36	5299	c.5119G>A	c.(5119-5121)Gaa>Aaa	p.E1707K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1707K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1707					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	p.E1707K(1)		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)					TTCAATTTTTCGTGGTGTGCA	0.443000													11	65					0	0	0.000978159	0	0
OR2T6	254879	broad.mit.edu	37	1	248551181	248551181	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:248551181C>T	ENST00000355728.2	+	1	272	c.272C>T	c.(271-273)aCc>aTc	p.T91I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCGAGGGGACCATCTCTTTC	0.527000													15	68					0	0	0.000422831	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617323	183617323	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:183617323G>A	ENST00000308641.4	-	2	865	c.594C>T	c.(592-594)ctC>ctT	p.L198L	RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	198					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TAAAGCTGTGGAGAACAGAAT	0.512000													9	74					0	0	0.000673444	0	0
MAP2K4	6416	broad.mit.edu	37	17	12016634	12016634	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:12016634C>T	ENST00000415385.3	+	8	856	c.803C>T	c.(802-804)tCt>tTt	p.S268F	MAP2K4_ENST00000353533.5_Missense_Mutation_p.S257F			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	257	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTTGTGGACTCTATTGCCAAG	0.448000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								4	27					0	0	0.00024832	0	0
PCDH15	65217	broad.mit.edu	37	10	55570341	55570341	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:55570341G>A	ENST00000373965.2	-	35	4872	c.4478C>T	c.(4477-4479)gCt>gTt	p.A1493V	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1493V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1490V|PCDH15_ENST00000409834.1_Silent_p.L1121L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.L1510L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTTCCTCAGCTTCACCAAC	0.398000										HNSCC(58;0.16)			23	126					0	0	0.000586117	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529202	24529202	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:24529202C>T	ENST00000342740.5	+	23	2046	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	631										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CGCTTCATGTCCTTCCCCGTG	0.647000													14	97					0	0	0.000308642	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27783082	27783082	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:27783082C>T	ENST00000359465.4	+	1	261	c.261C>T	c.(259-261)cgC>cgT	p.R87R		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	87					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						ACAACAAGCGCTCGACCATCA	0.592000													7	46					0	0	0.000157383	0	0
FGFR2	2263	broad.mit.edu	37	10	123263433	123263433	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:123263433G>A	ENST00000358487.5	-	10	1582	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	FGFR2_ENST00000369059.1_Missense_Mutation_p.S323F|FGFR2_ENST00000360144.3_Missense_Mutation_p.S349F|FGFR2_ENST00000457416.2_Missense_Mutation_p.S438F|FGFR2_ENST00000351936.6_Missense_Mutation_p.S435F|FGFR2_ENST00000369060.4_Missense_Mutation_p.S321F|FGFR2_ENST00000369056.1_Missense_Mutation_p.S438F|FGFR2_ENST00000369061.4_Missense_Mutation_p.S325F|FGFR2_ENST00000356226.4_Missense_Mutation_p.S320F|FGFR2_ENST00000478859.1_Missense_Mutation_p.S209F|FGFR2_ENST00000357555.5_Missense_Mutation_p.S348F|FGFR2_ENST00000346997.2_Missense_Mutation_p.S435F	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	437					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGAGTTCATGGAGGAGCTGGA	0.552000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				6	24					0	0	0.00116845	0	0
CLEC4A	50856	broad.mit.edu	37	12	8276533	8276533	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:8276533G>A	ENST00000229332.5	+	1	306	c.59G>A	c.(58-60)gGc>gAc	p.G20D	CLEC4A_ENST00000360500.3_Missense_Mutation_p.G20D|CLEC4A_ENST00000345999.3_Missense_Mutation_p.G20D|CLEC4A_ENST00000352620.3_Missense_Mutation_p.G20D	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	20					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		AAGTCCTCAGGCATCAACACA	0.418000													7	44					0	0	0.000274275	0	0
ABCA10	10349	broad.mit.edu	37	17	67187420	67187420	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:67187420G>A	ENST00000269081.4	-	18	2817	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	636					transport	integral to membrane	ATP binding|ATPase activity	p.I636M(1)		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)					TAAGGGATGTGATTTTTTCTG	0.338000													6	21					0	0	0.000157383	0	0
GLYCTK	132158	broad.mit.edu	37	3	52325015	52325015	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:52325015C>T	ENST00000354773.4	+	3	513	c.417C>T	c.(415-417)ttC>ttT	p.F139F	GLYCTK_ENST00000305690.8_Silent_p.F139F|GLYCTK_ENST00000477382.1_Silent_p.F139F|GLYCTK_ENST00000473032.1_Silent_p.F139F|GLYCTK_ENST00000436784.2_Silent_p.F139F|GLYCTK_ENST00000461183.1_Silent_p.F55F|GLYCTK_ENST00000471180.1_Silent_p.F12F|GLYCTK-AS1_ENST00000493616.1_RNA	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	139					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TCCAGGTATTCGAGGGTGCGG	0.627000													9	55					0	0	0.000673444	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800543	70800543	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:70800543C>T	ENST00000333538.5	+	2	880	c.246C>T	c.(244-246)tcC>tcT	p.S82S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	82						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGGCTTATCCAAATCCCTTG	0.468000													10	51					0	0	0.000978159	0	0
FAT4	79633	broad.mit.edu	37	4	126240824	126240824	+	Silent	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:126240824T>G	ENST00000394329.3	+	1	3271	c.3258T>G	c.(3256-3258)gtT>gtG	p.V1086V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1086	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTGAATGTTACTGTAATTT	0.383000													21	138					0	0	0.00188189	0	0
CFH	3075	broad.mit.edu	37	1	196646616	196646616	+	Silent	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:196646616T>C	ENST00000367429.4	+	5	678	c.438T>C	c.(436-438)tgT>tgC	p.C146C	CFH_ENST00000359637.2_Intron|CFH_ENST00000439155.2_Silent_p.C146C	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	146	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGTGAAGTGTTTACCAGTGA	0.338000													5	22					0	0	0.00116845	0	0
ADCY8	114	broad.mit.edu	37	8	131921973	131921973	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:131921973C>T	ENST00000286355.5	-	6	3713	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E541K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	541					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTCCAGATTCGAGTTTGTTT	0.463000										HNSCC(32;0.087)			27	182					0	0	0.00209593	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38413339	38413339	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:38413339G>A	ENST00000377694.1	-	3	604	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	194	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		TGCCCTCAGGGGACTTCGTGA	0.582000													11	44					0	0	0.000978159	0	0
FGF23	8074	broad.mit.edu	37	12	4479873	4479873	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:4479873T>G	ENST00000237837.1	-	3	537	c.392A>C	c.(391-393)cAg>cCg	p.Q131P		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	131					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GAAGTGATACTGAGGAGAGTG	0.587000													12	118					0	0	0.000308642	0	0
PRG3	10394	broad.mit.edu	37	11	57144328	57144328	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:57144328A>T	ENST00000287143.2	-	6	782	c.673T>A	c.(673-675)Ttc>Atc	p.F225I		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	225					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CTGGCTTAGAAGGAGCAGACG	0.602000													23	184					0	0	0.00127121	0	0
OR6K3	391114	broad.mit.edu	37	1	158686961	158686961	+	Silent	SNP	A	A	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158686961A>C	ENST00000368146.1	-	1	992	c.993T>G	c.(991-993)ggT>ggG	p.G331G	OR6K3_ENST00000368145.1_Silent_p.G315G			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CTCTGTATTAACCTCCAGGCT	0.408000													4	23					0	0	0.000602214	0	0
TPTE2	93492	broad.mit.edu	37	13	20067628	20067628	+	Missense_Mutation	SNP	C	C	T	rs140148307		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:20067628C>T	ENST00000400230.2	-	2	69	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TPTE2_ENST00000382978.1_Missense_Mutation_p.E9K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E9K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E9K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E9K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E9K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E9K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E9K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	9						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTAAATTCGTTTGTCTGT	0.358000													14	108					0	0	0.000308642	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233675	63233675	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:63233675C>T	ENST00000540857.1	-	5	756	c.624G>A	c.(622-624)aaG>aaA	p.K208K	HRASLS5_ENST00000539221.1_Silent_p.K218K|HRASLS5_ENST00000301790.4_Silent_p.K218K	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	218										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTTGACCATCTTTTTTGTAC	0.527000													15	78					0	0	0.000308642	0	0
MYH8	4626	broad.mit.edu	37	17	10299733	10299733	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:10299733C>T	ENST00000403437.2	-	33	4661	c.4567G>A	c.(4567-4569)Gga>Aga	p.G1523R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1523					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTTGCTTTCCTCCCTCTGCA	0.423000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	43					0	0	0.000602214	0	0
VPS13B	157680	broad.mit.edu	37	8	100160116	100160116	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:100160116C>T	ENST00000395996.1	+	14	2002	c.1891C>T	c.(1891-1893)Ctt>Ttt	p.L631F	VPS13B_ENST00000358544.2_Missense_Mutation_p.L631F|VPS13B_ENST00000357162.2_Missense_Mutation_p.L631F|VPS13B_ENST00000355155.1_Missense_Mutation_p.L631F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	631					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAGGTGGCTCTTCTGGAGGA	0.303000													18	52					0	0	0.000958276	0	0
VEGFC	7424	broad.mit.edu	37	4	177605173	177605173	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:177605173C>T	ENST00000280193.2	-	7	1582	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	389					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCTGGCGGTTCGTACATGGCC	0.418000													9	51					0	0	0.000274275	0	0
COL6A6	131873	broad.mit.edu	37	3	130284112	130284112	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:130284112C>T	ENST00000358511.6	+	3	967	c.936C>T	c.(934-936)atC>atT	p.I312I	COL6A6_ENST00000453409.2_Silent_p.I312I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	312	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGCTGCCATCAAAAAGCTCA	0.498000													18	90					0	0	0.000958276	0	0
SETD1A	9739	broad.mit.edu	37	16	30991855	30991855	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:30991855C>T	ENST00000262519.8	+	15	5144	c.4458C>T	c.(4456-4458)ccC>ccT	p.P1486P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1486	Interaction with ASH2L, RBBP5 and WDR5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGATGGGCCCCGGGAGCACC	0.642000													11	79					0	0	0.00136819	0	0
ZNF80	7634	broad.mit.edu	37	3	113955853	113955853	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:113955853G>A	ENST00000482457.2	-	1	572	c.69C>T	c.(67-69)gtC>gtT	p.V23V		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTCCTGTGGAGACCTGCTCCT	0.532000													20	89					0	0	0.00229938	0	0
VARS2	57176	broad.mit.edu	37	6	30888877	30888877	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:30888877C>T	ENST00000321897.5	+	15	2147	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	VARS2_ENST00000542001.1_Silent_p.S365S|VARS2_ENST00000541562.1_Silent_p.S535S|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Silent_p.S505S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	505					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCAGTCCCTCCTTCCACCAGA	0.572000													5	28					0	0	0.00116845	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676166	54676166	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:54676166G>A	ENST00000474759.1	+	11	1113	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	CACNA2D3_ENST00000288197.5_Silent_p.T355T|CACNA2D3_ENST00000490478.1_Silent_p.T261T|CACNA2D3_ENST00000415676.2_Silent_p.T355T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	355	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCAACCACACGGGACAAGGAA	0.413000													5	17					0	0	0.00116845	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852210	16852210	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:16852210T>G	ENST00000437538.2	-	2	157	c.149A>C	c.(148-150)cAc>cCc	p.H50P	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.H96P|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.H50P|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.H96P			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	96					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTGCTTAGGGTGCTGTCCACA	0.532000									IgA Deficiency, Selective				14	93					0	0	0.00185496	0	0
BCL7B	9275	broad.mit.edu	37	7	72954261	72954261	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:72954261G>A	ENST00000223368.2	-	4	810	c.387C>T	c.(385-387)ttC>ttT	p.F129F	BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Intron	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	129							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATCCGTGCGGAAGTCGGAGG	0.612000													4	39					0	0	0.000602214	0	0
OBSCN	84033	broad.mit.edu	37	1	228559615	228559615	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:228559615G>A	ENST00000570156.2	+	105	24081	c.24007G>A	c.(24007-24009)Ggc>Agc	p.G8003S	OBSCN_ENST00000422127.1_Missense_Mutation_p.G7046S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G4680S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7046					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCCAGGAGGGCTGCAGCCC	0.672000													5	21					0	0	0.000602214	0	0
KIAA0556	23247	broad.mit.edu	37	16	27786390	27786390	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:27786390C>T	ENST00000261588.4	+	24	4453	c.4434C>T	c.(4432-4434)ccC>ccT	p.P1478P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1478										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGCTGGCTCCCATCCTGCCGG	0.662000													6	59					0	0	0.000157383	0	0
SLX4	84464	broad.mit.edu	37	16	3633495	3633495	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:3633495G>A	ENST00000294008.3	-	14	5396	c.4756C>T	c.(4756-4758)Ctg>Ttg	p.L1586L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1586	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGTTTAGGCAGAGGGCGGACT	0.557000								Direct reversal of damage					17	80					0	0	0.00074312	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844263	131844263	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:131844263G>A	ENST00000359827.3	-	25	5591	c.4629C>T	c.(4627-4629)tcC>tcT	p.S1543S	PLXNA4_ENST00000321063.4_Silent_p.S1543S			Q9HCM2	PLXA4_HUMAN	plexin A4	1543						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						TGGGCCGGTGGGAGCAAGGCA	0.552000													28	289					0	0	0.00178596	0	0
CNDP2	55748	broad.mit.edu	37	18	72180828	72180828	+	Silent	SNP	C	C	T	rs148490498	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:72180828C>T	ENST00000324262.4	+	8	1093	c.777C>T	c.(775-777)atC>atT	p.I259I	CNDP2_ENST00000324301.8_Silent_p.I175I|CNDP2_ENST00000579847.1_Silent_p.I259I	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	259						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ACATCCTGATCCCCGGCATTA	0.597000													5	27					0	0	0.000602214	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392257	1392257	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:1392257C>T	ENST00000324385.5	+	11	1193	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	BAIAP3_ENST00000421665.2_Silent_p.F310F|BAIAP3_ENST00000397488.2_Silent_p.F327F|BAIAP3_ENST00000397489.1_Silent_p.F327F|BAIAP3_ENST00000426824.3_Silent_p.F310F|BAIAP3_ENST00000562208.1_Silent_p.F287F|BAIAP3_ENST00000568887.1_Silent_p.F282F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	345					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCGATGACTTCCTGGGGTGCC	0.617000													14	42					0	0	0.00244969	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47189669	47189669	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:47189669C>T	ENST00000337137.4	+	3	557	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P112S|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.P84S|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P84S|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P131S	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	131						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGCAGAGCCGCCCTCACCCCC	0.687000													3	11					0	0	0.00024832	0	0
JAK1	3716	broad.mit.edu	37	1	65349124	65349124	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:65349124G>A	ENST00000342505.4	-	3	289	c.41C>T	c.(40-42)gCt>gTt	p.A14V		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	14					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGCACAGAAAGCCATGGCATT	0.473000			Mis		ALL								15	95					0	0	0.00074312	0	0
ENO3	2027	broad.mit.edu	37	17	4860302	4860302	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:4860302T>G	ENST00000323997.6	+	12	1397	c.1265T>G	c.(1264-1266)aTc>aGc	p.I422S	ENO3_ENST00000518175.1_Missense_Mutation_p.I422S|ENO3_ENST00000519584.1_Missense_Mutation_p.I379S	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	422					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GACAAGGCAATCTTTGCTGGA	0.577000											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	138					0	0	0.00121646	0	0
NUP85	79902	broad.mit.edu	37	17	73227516	73227516	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:73227516C>T	ENST00000447371.2	+	11	1096	c.672C>T	c.(670-672)ctC>ctT	p.L224L	NUP85_ENST00000579324.1_Silent_p.L280L|NUP85_ENST00000579298.1_Silent_p.L347L|NUP85_ENST00000541827.1_Silent_p.L346L|NUP85_ENST00000245544.4_Silent_p.L392L|NUP85_ENST00000540768.1_5'UTR			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	392					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CACACAACCTCTAGTAAGTGG	0.592000													12	83					0	0	0.000978159	0	0
MEF2D	4209	broad.mit.edu	37	1	156438006	156438006	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:156438006G>A	ENST00000348159.4	-	11	1813	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S	MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000368240.2_Missense_Mutation_p.P438S|MEF2D_ENST00000360595.3_Missense_Mutation_p.P438S|MEF2D_ENST00000353795.3_Missense_Mutation_p.P399S|MEF2D_ENST00000340875.5_Missense_Mutation_p.P444S	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	445					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCACGGCTTGGGGACACCGGT	0.692000													13	61					0	0	0.00244969	0	0
DHX37	57647	broad.mit.edu	37	12	125441678	125441678	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:125441678T>A	ENST00000308736.2	-	17	2259	c.2161A>T	c.(2161-2163)Atc>Ttc	p.I721F	DHX37_ENST00000544745.1_Missense_Mutation_p.I508F	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	721							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGAAGTTGATGACCTGGGAC	0.632000													10	89					0	0	0.000978159	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741003	140741003	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140741003C>T	ENST00000522605.1	+	1	1301	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTCTCCTCCAGCATAATT	0.537000													12	101					0	0	0.00244969	0	0
DSC3	1825	broad.mit.edu	37	18	28588419	28588419	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:28588419C>T	ENST00000434452.1	-	10	1490	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	DSC3_ENST00000360428.4_Missense_Mutation_p.D446N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	446	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGGGAATATCTCTAGCAAAT	0.443000													8	59					0	0	0.000274275	0	0
GJA5	2702	broad.mit.edu	37	1	147230993	147230993	+	Silent	SNP	C	C	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:147230993C>G	ENST00000271348.2	-	2	515	c.354G>C	c.(352-354)cgG>cgC	p.R118R	GJA5_ENST00000369237.1_Silent_p.R118R	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	118					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCCAGAGCCCCGGACCTCTT	0.617000													20	62					0	0	0.000958276	0	0
EYA2	2139	broad.mit.edu	37	20	45702823	45702823	+	Silent	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:45702823C>A	ENST00000327619.5	+	7	884	c.510C>A	c.(508-510)ccC>ccA	p.P170P	EYA2_ENST00000317304.6_Silent_p.P170P|EYA2_ENST00000357410.3_Silent_p.P170P	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	170					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCGGCTTCCCCCAGAGCCAGT	0.602000													8	75					3.86212e-05	0.00015106	0.000673444	1	0
ANGPT4	51378	broad.mit.edu	37	20	896765	896765	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:896765C>T	ENST00000381922.3	-	1	195	c.93G>A	c.(91-93)agG>agA	p.R31R	ANGPT4_ENST00000546022.1_Silent_p.R31R	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	31					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTCGCAGCCCCTATCCGCCT	0.607000													12	48					0	0	0.00185496	0	0
BFSP1	631	broad.mit.edu	37	20	17474832	17474832	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:17474832C>T	ENST00000377873.3	-	8	1924	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	BFSP1_ENST00000536626.1_Missense_Mutation_p.E490K|BFSP1_ENST00000377868.2_Missense_Mutation_p.E504K|BFSP1_ENST00000544874.1_Missense_Mutation_p.E490K	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	629	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GAAATCTTCTCGATAGATTCC	0.488000													46	158					0	0	0.00222228	0	0
HCN1	348980	broad.mit.edu	37	5	45262291	45262291	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:45262291G>A	ENST00000303230.4	-	8	2462	c.2405C>T	c.(2404-2406)tCc>tTc	p.S802F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	802						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGAGGTCTGGAAATCAGAGT	0.657000													9	43					0	0	0.000274275	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60990901	60990901	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:60990901G>A	ENST00000252998.1	-	7	643	c.487C>T	c.(487-489)Ccg>Tcg	p.P163S		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		TGGCCTCCCGGTGGCTTCTCT	0.716000													8	25					0	0	0.000274275	0	0
OR51V1	283111	broad.mit.edu	37	11	5221247	5221247	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:5221247G>A	ENST00000321255.1	-	1	683	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGAATCAGGATGTAGGAGA	0.438000													10	51					0	0	0.000442599	0	0
TYW1	55253	broad.mit.edu	37	7	66490002	66490002	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:66490002A>T	ENST00000359626.5	+	7	1141	c.977A>T	c.(976-978)aAa>aTa	p.K326I		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	326					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CATGTGAAGAAAGAAAAGGTA	0.413000													13	81					0	0	0.000308642	0	0
FREM2	341640	broad.mit.edu	37	13	39263138	39263138	+	Silent	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:39263138T>C	ENST00000280481.7	+	1	1873	c.1657T>C	c.(1657-1659)Tta>Cta	p.L553L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	553					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCCATCACCTTAGTGCCTGT	0.587000													5	25					0	0	0.00116845	0	0
NEDD4L	23327	broad.mit.edu	37	18	55992273	55992273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:55992273C>T	ENST00000456986.1	+	9	796	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	NEDD4L_ENST00000431212.2_Nonsense_Mutation_p.Q66*|NEDD4L_ENST00000456173.2_Nonsense_Mutation_p.Q66*|NEDD4L_ENST00000400345.3_Nonsense_Mutation_p.Q187*|NEDD4L_ENST00000382850.4_Nonsense_Mutation_p.Q187*|NEDD4L_ENST00000356462.6_Nonsense_Mutation_p.Q187*|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Nonsense_Mutation_p.Q179*|NEDD4L_ENST00000256832.7_Nonsense_Mutation_p.Q66*|NEDD4L_ENST00000256830.9_Nonsense_Mutation_p.Q187*|NEDD4L_ENST00000435432.2_Nonsense_Mutation_p.Q66*|NEDD4L_ENST00000357895.5_Nonsense_Mutation_p.Q179*	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	187	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TTCTCAGCACCAAGAGGAACT	0.488000													37	223					0	0	0.000953801	0	0
MTOR	2475	broad.mit.edu	37	1	11307753	11307753	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:11307753T>A	ENST00000361445.4	-	8	1230	c.1154A>T	c.(1153-1155)aAc>aTc	p.N385I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	385					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GATCAGCGAGTTCTTGCTATT	0.498000													13	68					0	0	0.000308642	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43625475	43625475	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:43625475C>T	ENST00000586348.1	+	0	45																											GTTGAGGTCTCCTCTGTGGTT	0.507000													34	217					0	0	0.00111076	0	0
MAGI1	9223	broad.mit.edu	37	3	65349223	65349223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:65349223G>A	ENST00000330909.8	-	22	3495	c.3496C>T	c.(3496-3498)Cga>Tga	p.R1166*	MAGI1_ENST00000497477.2_Nonsense_Mutation_p.R1071*|MAGI1_ENST00000402939.2_Nonsense_Mutation_p.R1138*|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.R1167*	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1167	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CGGCCTCCTCGAAGGCTAAAG	0.463000													21	102					0	0	0.00152264	0	0
TDRD9	122402	broad.mit.edu	37	14	104482409	104482409	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:104482409C>T	ENST00000409874.4	+	22	2363	c.2315C>T	c.(2314-2316)cCc>cTc	p.P772L	TDRD9_ENST00000339063.5_Missense_Mutation_p.P772L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	772					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGCAAGGACCCCAAGACAACT	0.507000													5	12					0	0	0.00116845	0	0
ENAM	10117	broad.mit.edu	37	4	71510108	71510108	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:71510108G>A	ENST00000396073.3	+	9	3246	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	989					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCTCAAAAATGATCTTGGAGG	0.408000													14	49					0	0	0.00244969	0	0
CPS1	1373	broad.mit.edu	37	2	211532934	211532934	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:211532934C>T	ENST00000233072.5	+	34	4223	c.4027C>T	c.(4027-4029)Cat>Tat	p.H1343Y	CPS1_ENST00000451903.2_Missense_Mutation_p.H892Y|CPS1_ENST00000430249.2_Missense_Mutation_p.H1349Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1343					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGAAGGTATTCATACAGCCTT	0.383000													4	42					0	0	0.000602214	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356328	40356328	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:40356328C>T	ENST00000310169.2	+	5	1370	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	411					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GGGTAAGAACCCTCAGGAGGC	0.498000													7	50					0	0	0.00198382	0	0
DIO2	1734	broad.mit.edu	37	14	80669068	80669068	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:80669068G>A	ENST00000557010.1	-	4	1171	c.786C>T	c.(784-786)ttC>ttT	p.F262F	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.F262F|DIO2_ENST00000555750.1_Silent_p.F298F	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	262					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATCTCTTGCTGAAATTCTTCT	0.383000													6	24					0	0	0.00198382	0	0
JAK3	3718	broad.mit.edu	37	19	17951087	17951087	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:17951087G>A	ENST00000458235.1	-	9	1305	c.1206C>T	c.(1204-1206)cgC>cgT	p.R402R	JAK3_ENST00000534444.1_Silent_p.R402R|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.R402R	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	402	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGGGGCTGCGGCGGAGAACAT	0.602000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								4	28					0	0	0.000602214	0	0
C3orf30	152405	broad.mit.edu	37	3	118865782	118865782	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:118865782C>T	ENST00000295622.1	+	1	786	c.746C>T	c.(745-747)cCa>cTa	p.P249L		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	249										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TCGTCCGTACCATCTGACCAA	0.483000													12	83					0	0	0.000978159	0	0
SORCS1	114815	broad.mit.edu	37	10	108357136	108357136	+	Missense_Mutation	SNP	G	G	A	rs147754225		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:108357136G>A	ENST00000263054.6	-	24	3245	c.3238C>T	c.(3238-3240)Ctt>Ttt	p.L1080F	SORCS1_ENST00000344440.6_Missense_Mutation_p.L1080F|SORCS1_ENST00000369698.1_Missense_Mutation_p.L615F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1080						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCATGGACAAGGACTCGGACT	0.512000													7	28					0	0	0.000274275	0	0
MKX	283078	broad.mit.edu	37	10	28023391	28023391	+	Missense_Mutation	SNP	G	G	A	rs138096382		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:28023391G>A	ENST00000375790.5	-	5	1264	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	MKX_ENST00000419761.1_Missense_Mutation_p.R278C			Q8IYA7	MKX_HUMAN	mohawk homeobox	278					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTACCTGTGCGATAGACAAAG	0.393000													6	59					0	0	0.00198382	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354695	45354695	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:45354695C>T	ENST00000359271.2	+	2	1270	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	340						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGCAGACAGGCCTCCCTGGAG	0.597000													10	63					0	0	0.000673444	0	0
CLCA2	9635	broad.mit.edu	37	1	86916403	86916403	+	Silent	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:86916403T>C	ENST00000370565.4	+	12	2304	c.2142T>C	c.(2140-2142)ggT>ggC	p.G714G	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	714					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATGTACCAGGTTACACAGCAA	0.443000													5	76					0	0	0.00198382	0	0
ABCB1	5243	broad.mit.edu	37	7	87144652	87144652	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:87144652C>T	ENST00000265724.3	-	26	3594	c.3177G>A	c.(3175-3177)gaG>gaA	p.E1059E	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.E995E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1059	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTTCTTCACCTCCAGGCTCA	0.567000													9	47					0	0	0.000673444	0	0
IK	3550	broad.mit.edu	37	5	140032629	140032629	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140032629C>T	ENST00000417647.2	+	5	443	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	102					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		p.R102C(1)		large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCGGGATCGTGCCAAGGA	0.483000													7	59					0	0	0.00198382	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162403	33162403	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:33162403C>T	ENST00000510327.1	-	0	346																											AAGATTGGCCCCCGCCGCATC	0.582000													3	19					0	0	6.4e-05	0	0
HEPHL1	341208	broad.mit.edu	37	11	93826788	93826788	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:93826788G>A	ENST00000315765.9	+	13	2424	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	806	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACCACGAGAGGAGCACTTAGA	0.493000													15	68					0	0	0.000308642	0	0
DNAH3	55567	broad.mit.edu	37	16	21042418	21042418	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:21042418C>T	ENST00000261383.3	-	37	5387	c.5388G>A	c.(5386-5388)gtG>gtA	p.V1796V	DNAH3_ENST00000415178.1_Silent_p.V1796V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1796	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAATAGCATCCACTGGCCCAT	0.428000													9	63					0	0	0.000274275	0	0
TCTE1	202500	broad.mit.edu	37	6	44253875	44253875	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:44253875G>A	ENST00000371505.4	-	3	794	c.672C>T	c.(670-672)acC>acT	p.T224T	TCTE1_ENST00000371503.3_Silent_p.T71T|TCTE1_ENST00000371504.1_Silent_p.T71T|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	224								p.T224T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTGGTCAACGGTGGGCTCCT	0.637000													6	88					0	0	0.00198382	0	0
FGA	2243	broad.mit.edu	37	4	155506702	155506702	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:155506702G>A	ENST00000302053.3	-	5	1957	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	FGA_ENST00000403106.3_Missense_Mutation_p.R627C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	627	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R627C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ctgaCAGGGCGAGATTTAGCA	0.493000													7	42					0	0	0.000157383	0	0
SLC12A5	57468	broad.mit.edu	37	20	44681630	44681630	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:44681630C>T	ENST00000454036.1	+	19	2557	c.2481C>T	c.(2479-2481)gcC>gcT	p.A827A	SLC12A5_ENST00000243964.3_Silent_p.A804A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	827					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCACTTAGCCCTGCTGGTCA	0.592000													6	25					0	0	0.00116845	0	0
MUC5AC	4586	broad.mit.edu	37	11	1159336	1159336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:1159336G>A	ENST00000356191.2	+	16	1304	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TCTGTGCTTGGAGGTGCCCAC	0.642000													17	70					0	0	0.00074312	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													18	122					0	0	0.00229938	0	0
RAB1B	81876	broad.mit.edu	37	11	66043344	66043344	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:66043344C>T	ENST00000311481.6	+	5	496	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Missense_Mutation_p.L85F	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	117					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCAATAAGCTCCTGGTGGG	0.597000													4	20					0	0	0.00024832	0	0
PCDH17	27253	broad.mit.edu	37	13	58207500	58207500	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:58207500C>G	ENST00000377918.3	+	1	846	c.820C>G	c.(820-822)Ccc>Gcc	p.P274A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	274	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGATGAAGGTCCCAATGGTGA	0.607000													11	58					0	0	0.000978159	0	0
INO80D	54891	broad.mit.edu	37	2	206869496	206869496	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:206869496G>A	ENST00000403263.1	-	11	3084	c.2680C>T	c.(2680-2682)Cct>Tct	p.P894S		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	626					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AGGTTGACAGGGAGATTGCCC	0.557000													10	62					0	0	0.000442599	0	0
PCDH10	57575	broad.mit.edu	37	4	134072200	134072200	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:134072200G>A	ENST00000264360.4	+	1	1731	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	302	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGCTTTTCGGACTCTCGCCG	0.632000													10	52					0	0	0.000442599	0	0
TRAK2	66008	broad.mit.edu	37	2	202248843	202248843	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:202248843A>C	ENST00000332624.3	-	15	2488	c.2060T>G	c.(2059-2061)gTt>gGt	p.V687G		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	687				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CCTGGGGGTAACCTGAGTGAT	0.428000													6	37					0	0	0.00116845	0	0
SSPO	23145	broad.mit.edu	37	7	149509388	149509388	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:149509388C>T	ENST00000378016.2	+	0	9786							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCCTGGTCCCACTGTAGCC	0.716000													7	22					0	0	0.000442599	0	0
SLC14A2	8170	broad.mit.edu	37	18	43216985	43216985	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:43216985C>T	ENST00000255226.6	+	6	1497	c.681C>T	c.(679-681)atC>atT	p.I227I	SLC14A2_ENST00000586448.1_Silent_p.I227I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	227						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAATTCCATCTTCAGCAAGT	0.512000													36	232					0	0	0.00170553	0	0
LRP1B	53353	broad.mit.edu	37	2	141128281	141128281	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:141128281C>T	ENST00000389484.3	-	71	11977	c.11006G>A	c.(11005-11007)aGa>aAa	p.R3669K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3669					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCTTACCTCTTTCACAGTT	0.408000										TSP Lung(27;0.18)			4	19					0	0	0.00024832	0	0
NIM1K	167359	broad.mit.edu	37	5	43277242	43277242	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:43277242G>A	ENST00000512796.1	+	3	1875	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	NIM1_ENST00000326035.2_Missense_Mutation_p.E126K			Q8IY84	NIM1_HUMAN		126	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CTCCAGCATGGAAAAGCTGCA	0.498000													9	54					0	0	0.000274275	0	0
COQ9	57017	broad.mit.edu	37	16	57493987	57493987	+	Missense_Mutation	SNP	G	G	A	rs140788797		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:57493987G>A	ENST00000262507.6	+	8	961	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	COQ9_ENST00000567933.1_Missense_Mutation_p.V187M|COQ9_ENST00000567072.1_Missense_Mutation_p.V263M	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	298					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						AGAGGCACTGGTGCAAGGACT	0.532000													5	42					0	0	0.00198382	0	0
FCGBP	8857	broad.mit.edu	37	19	40424155	40424155	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:40424155G>A	ENST00000221347.6	-	4	2055	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	683	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGCGAAGGGGCCATCGAG	0.637000													30	193					0	0	0.00178596	0	0
C5orf46	389336	broad.mit.edu	37	5	147281223	147281223	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:147281223C>T	ENST00000515291.1	-	2	220	c.184G>A	c.(184-186)Gag>Aag	p.E62K	C5orf46_ENST00000510432.1_5'UTR|C5orf46_ENST00000318315.4_Missense_Mutation_p.E62K			Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	62						extracellular region		p.E62K(1)		NS(1)|lung(1)|prostate(1)	3						AGGATGAACTCGACTGCATTC	0.498000													5	45					0	0	0.000602214	0	0
SPG20	23111	broad.mit.edu	37	13	36888536	36888536	+	Silent	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:36888536A>G	ENST00000451493.1	-	6	1528	c.1311T>C	c.(1309-1311)ggT>ggC	p.G437G	SPG20_ENST00000438666.2_Silent_p.G437G|SPG20_ENST00000494062.2_Silent_p.G437G|SPG20_ENST00000355182.4_Silent_p.G437G	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	437					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTTTGACTAAACCCCAACTCA	0.383000													7	49					0	0	0.000157383	0	0
BOLL	66037	broad.mit.edu	37	2	198593201	198593201	+	Missense_Mutation	SNP	C	C	T	rs151126588	by1000genomes	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:198593201C>T	ENST00000430004.1	-	12	1388	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	BOLL_ENST00000282278.8_3'UTR|BOLL_ENST00000392296.4_3'UTR|BOLL_ENST00000321801.7_3'UTR|AC011997.1_ENST00000409845.1_Intron			Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	0					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CTAGCTGGTTCGTTGAAGCTG	0.418000													5	41					0	0	0.00198382	0	0
SIM1	6492	broad.mit.edu	37	6	100897561	100897561	+	Silent	SNP	T	T	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:100897561T>A	ENST00000369208.3	-	5	1145	c.363A>T	c.(361-363)ggA>ggT	p.G121G	SIM1_ENST00000262901.4_Silent_p.G121G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	121	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGCTGTTTCCGGTCAGCT	0.577000													6	54					0	0	0.00116845	0	0
ACVR1B	91	broad.mit.edu	37	12	52374763	52374763	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:52374763C>T	ENST00000257963.4	+	4	668	c.591C>T	c.(589-591)ctC>ctT	p.L197L	ACVR1B_ENST00000542485.1_Silent_p.L145L|ACVR1B_ENST00000541224.1_Silent_p.L197L|ACVR1B_ENST00000426655.2_Silent_p.L197L|ACVR1B_ENST00000415850.2_Silent_p.L197L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	197	GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGTTACCCCTCTTTGTCCAGC	0.498000											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	56					0	0	0.00198382	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885086	88885086	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:88885086G>A	ENST00000319675.3	-	1	1210	c.1114C>T	c.(1114-1116)Ctc>Ttc	p.L372F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	372										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGCCCCCGAGGCGAGAAGAG	0.592000													4	52					0	0	0.000602214	0	0
OR8D1	283159	broad.mit.edu	37	11	124179850	124179850	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:124179850C>T	ENST00000357821.2	-	1	883	c.813G>A	c.(811-813)gaG>gaA	p.E271E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGGACACCTTCTCCTGGTCCA	0.463000													9	27					0	0	0.000978159	0	0
SAMD3	154075	broad.mit.edu	37	6	130497140	130497140	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:130497140C>T	ENST00000532763.1	-	7	791	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	223										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTGAGGGCTCGTTTCCATAA	0.348000													12	66					0	0	0.000308642	0	0
HYDIN	54768	broad.mit.edu	37	16	70889126	70889126	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:70889126G>A	ENST00000393567.2	-	73	12498	c.12348C>T	c.(12346-12348)ttC>ttT	p.F4116F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4116										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGAAAAATCGAACCCCTGCT	0.542000													12	76					0	0	0.000308642	0	0
EVPL	2125	broad.mit.edu	37	17	74005574	74005574	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:74005574G>A	ENST00000301607.3	-	22	3965	c.3712C>T	c.(3712-3714)Ctg>Ttg	p.L1238L	EVPL_ENST00000586740.1_Silent_p.L1260L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1238	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGACCTCCAGGTCGGGCAGC	0.642000													11	83					0	0	0.000673444	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514779	26514779	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:26514779C>T	ENST00000531191.1	+	16	1742	c.735C>T	c.(733-735)gcC>gcT	p.A245A	CNKSR1_ENST00000361530.6_Silent_p.A503A|CNKSR1_ENST00000374253.5_Silent_p.A510A			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	510	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCCGGGCCCCCCCACCCC	0.602000													12	44					0	0	0.00185496	0	0
FOLH1	2346	broad.mit.edu	37	11	49208318	49208318	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:49208318C>T	ENST00000340334.7	-	6	840	c.472G>A	c.(472-474)Gat>Aat	p.D158N	FOLH1_ENST00000533034.1_Missense_Mutation_p.D158N|FOLH1_ENST00000356696.3_Missense_Mutation_p.D173N|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000256999.2_Missense_Mutation_p.D173N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	173					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACACTAGATCGCCCTGTTGA	0.393000													12	73					0	0	0.00244969	0	0
SIK3	23387	broad.mit.edu	37	11	116729133	116729133	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:116729133G>A	ENST00000375300.1	-	20	2909	c.2904C>T	c.(2902-2904)atC>atT	p.I968I	SIK3_ENST00000292055.4_Silent_p.I910I|SIK3_ENST00000542607.1_Silent_p.I850I|SIK3_ENST00000434315.2_Silent_p.I749I|SIK3_ENST00000446921.2_Silent_p.I908I|SIK3_ENST00000375288.1_Silent_p.I245I|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	910						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GTCCTTGAAGGATGTGGGGTA	0.592000													122	685					0	0	0.000781405	0	0
SRGAP3	9901	broad.mit.edu	37	3	9146374	9146374	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:9146374A>C	ENST00000383836.3	-	3	840	c.413T>G	c.(412-414)cTc>cGc	p.L138R	SRGAP3_ENST00000360413.3_Missense_Mutation_p.L138R|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	138					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTTTTTGAAGAGTCTGATGAC	0.552000			T	RAF1	pilocytic astrocytoma								13	83					0	0	0.00185496	0	0
LOC344967	344967	broad.mit.edu	37	4	40045554	40045554	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:40045554G>A	ENST00000381811.2	-	0	595					NR_027277.1																						TGGGCCACAGGAAGTGGGTGC	0.612000													4	11					0	0	0.00024832	0	0
SYT10	341359	broad.mit.edu	37	12	33579230	33579230	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:33579230C>T	ENST00000228567.3	-	2	648	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	118						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTTCATTTTCCTTAATTTCT	0.408000													14	91					0	0	0.000308642	0	0
NPAP1	23742	broad.mit.edu	37	15	24922007	24922007	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:24922007G>A	ENST00000329468.2	+	1	1467	c.993G>A	c.(991-993)tcG>tcA	p.S331S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGAAAATGTCGATTCCATTGC	0.587000													13	45					0	0	0.00136819	0	0
NFATC2	4773	broad.mit.edu	37	20	50133368	50133368	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:50133368G>A	ENST00000371564.3	-	3	1506	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	NFATC2_ENST00000396009.3_Silent_p.S429S|NFATC2_ENST00000414705.1_Silent_p.S409S	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	429	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CAGCCCCTCGGCTGCCTTCTG	0.557000													9	59					0	0	0.000442599	0	0
UTP20	27340	broad.mit.edu	37	12	101703550	101703550	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:101703550C>T	ENST00000261637.4	+	19	2338	c.2164C>T	c.(2164-2166)Cgt>Tgt	p.R722C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	722					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTGCCGCTTCGTTATTTGTT	0.358000													19	140					0	0	0.00121646	0	0
CRHBP	1393	broad.mit.edu	37	5	76259231	76259231	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:76259231G>A	ENST00000274368.4	+	6	1179	c.757G>A	c.(757-759)Gac>Aac	p.D253N	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	253					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AACTGGATTGGACCCTTCCAA	0.453000													68	386					0	0	0.000781405	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133698444	133698444	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:133698444C>A	ENST00000310926.4	-	2	388	c.115G>T	c.(115-117)Ggc>Tgc	p.G39C	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G39C	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	39					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGCAGGAGGCCTTGGCAGAGC	0.607000													6	48					0.00116845	0.00453961	0.00116845	1	0
CD1C	911	broad.mit.edu	37	1	158262541	158262541	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:158262541C>T	ENST00000368170.3	+	4	1045	c.766C>T	c.(766-768)Cct>Tct	p.P256S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	256	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGATATTCTTCCTAATGCTGA	0.527000													12	101					0	0	0.00136819	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056460	120056460	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:120056460C>T	ENST00000235547.6	+	4	459	c.320C>T	c.(319-321)aCc>aTc	p.T107I	HSD3B1_ENST00000369413.3_Missense_Mutation_p.T105I|HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105I	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	105					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGGACAGGTACCCAGCTCCTG	0.512000													33	227					0	0	0.000692331	0	0
SIM1	6492	broad.mit.edu	37	6	100895167	100895167	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:100895167G>A	ENST00000369208.3	-	9	1757	c.975C>T	c.(973-975)atC>atT	p.I325I	SIM1_ENST00000262901.4_Silent_p.I325I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	325	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGACGCTGACGATACAGTGTG	0.622000													5	41					0	0	0.000602214	0	0
NAGA	4668	broad.mit.edu	37	22	42463188	42463188	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:42463188G>A	ENST00000396398.3	-	4	963	c.431C>T	c.(430-432)aCc>aTc	p.T144I	NAGA_ENST00000402937.1_Missense_Mutation_p.T144I|NAGA_ENST00000403363.1_Missense_Mutation_p.T144I	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	144					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CTCGGCGAAGGTCTGAGCATC	0.612000													27	150					0	0	0.00106085	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516461	118516461	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:118516461G>A	ENST00000361417.2	+	18	3836	c.3425G>A	c.(3424-3426)gGt>gAt	p.G1142D	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.G1095D|PHLDB1_ENST00000527898.1_Missense_Mutation_p.G193D|PHLDB1_ENST00000524713.1_Missense_Mutation_p.G285D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1142										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCGCGAGTGGTCTGGACATG	0.602000													9	105					0	0	0.000673444	0	0
SDE2	163859	broad.mit.edu	37	1	226183064	226183064	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:226183064G>A	ENST00000272091.7	-	2	159	c.141C>T	c.(139-141)ttC>ttT	p.F47F	SDE2_ENST00000366817.1_5'UTR	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		ATTTCACAAAGAAGTTTTCCA	0.383000													8	45					0	0	0.000442599	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656149	167656149	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:167656149C>T	ENST00000357154.3	-	12	1371	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	SPOCK3_ENST00000504953.1_Missense_Mutation_p.E409K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E314K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E292K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E280K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E412K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E369K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E409K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E409K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E314K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E412K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E361K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E412K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	412	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		atttcatcttcatcattcata	0.353000													4	19					0	0	0.00024832	0	0
DMBT1	1755	broad.mit.edu	37	10	124345794	124345794	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:124345794G>A	ENST00000338354.3	+	16	1784	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D550N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D560N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D550N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	560	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCCTGGATGACGTGCGCTG	0.592000													34	128					0	0	0.00209593	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731844	140731844	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140731844G>A	ENST00000523390.1	+	1	2017	c.2017G>A	c.(2017-2019)Gac>Aac	p.D673N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTCAGCGACCGCCCTGA	0.607000													26	150					0	0	0.000720815	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149141	142149141	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142149141G>A	ENST00000390372.3	-	0	136																											CCAGAGATAGGAGAGCATCTC	0.522000													7	121					0	0	0.000157383	0	0
GPR37	2861	broad.mit.edu	37	7	124387044	124387044	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:124387044G>A	ENST00000303921.2	-	2	2027	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	459						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGAGCAGGTGATGGTGAAAA	0.473000													4	36					0	0	0.000602214	0	0
RXFP3	51289	broad.mit.edu	37	5	33937426	33937426	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:33937426G>A	ENST00000330120.3	+	1	936	c.581G>A	c.(580-582)cGa>cAa	p.R194Q		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	194						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CACCGGACCCGAGGACACGGC	0.657000													8	50					0	0	0.000274275	0	0
PTPRT	11122	broad.mit.edu	37	20	40727098	40727098	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:40727098G>A	ENST00000373198.3	-	28	4110	c.3875C>T	c.(3874-3876)tCc>tTc	p.S1292F	PTPRT_ENST00000373187.1_Missense_Mutation_p.S1270F|PTPRT_ENST00000373201.1_Missense_Mutation_p.S1260F|PTPRT_ENST00000373193.3_Missense_Mutation_p.S1273F|PTPRT_ENST00000356100.2_Missense_Mutation_p.S1279F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S1280F|PTPRT_ENST00000373190.1_Missense_Mutation_p.S1269F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1270	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCACAGAGGAGCAGTTGTA	0.597000													13	93					0	0	0.00185496	0	0
NR3C1	2908	broad.mit.edu	37	5	142689710	142689710	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:142689710G>A	ENST00000343796.2	-	4	2413	c.1420C>T	c.(1420-1422)Cca>Tca	p.P474S	NR3C1_ENST00000415690.2_Missense_Mutation_p.P474S|NR3C1_ENST00000504572.1_Missense_Mutation_p.P475S|NR3C1_ENST00000503201.1_Missense_Mutation_p.P474S|NR3C1_ENST00000394464.2_Missense_Mutation_p.P474S|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000424646.2_Missense_Mutation_p.P448S|NR3C1_ENST00000394466.2_Missense_Mutation_p.P475S|NR3C1_ENST00000416954.2_Missense_Mutation_p.P77S|NR3C1_ENST00000231509.3_Missense_Mutation_p.P475S	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	474					chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CGGCATGCTGGGCAGTTTTTT	0.358000													9	47					0	0	0.000673444	0	0
ZNF432	9668	broad.mit.edu	37	19	52538078	52538078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:52538078C>T	ENST00000594154.1	-	5	1066	c.854G>A	c.(853-855)gGa>gAa	p.G285E	ZNF432_ENST00000221315.5_Missense_Mutation_p.G285E			O94892	ZN432_HUMAN	zinc finger protein 432	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGGTTTCTCTCCAGTATGAGT	0.383000													7	75					0	0	0.000157383	0	0
GALNT8	26290	broad.mit.edu	37	12	4829910	4829910	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:4829910C>T	ENST00000252318.2	+	1	404	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	RP11-234B24.6_ENST00000544741.2_Intron	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	23						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L23F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGCTGTCAATCTCCTTCTGGT	0.507000													20	90					0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9061857	9061857	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:9061857C>T	ENST00000397910.4	-	3	25792	c.25589G>A	c.(25588-25590)gGa>gAa	p.G8530E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8532	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTGAAAATCCTGGAGATGC	0.522000													7	54					0	0	0.000157383	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857657	9857657	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:9857657G>A	ENST00000396573.2	-	14	4053	c.3744C>T	c.(3742-3744)atC>atT	p.I1248I	GRIN2A_ENST00000535259.1_Silent_p.I1091I|GRIN2A_ENST00000562109.1_Silent_p.I1248I|GRIN2A_ENST00000396575.2_Silent_p.I1248I|GRIN2A_ENST00000404927.2_Silent_p.I1248I|GRIN2A_ENST00000330684.3_Silent_p.I1248I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1248					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.I1248I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTCTTCATCGATGTCATAGA	0.547000													6	63					0	0	0.00116845	0	0
XDH	7498	broad.mit.edu	37	2	31562439	31562439	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:31562439G>A	ENST00000379416.3	-	34	3738	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1230					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAAATGCCGGGATCTTGTAGG	0.592000													11	110					0	0	0.000673444	0	0
OR6C68	403284	broad.mit.edu	37	12	55886277	55886277	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:55886277G>A	ENST00000379662.1	+	1	131	c.131G>A	c.(130-132)gGg>gAg	p.G44E	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.G39E|RP11-110A12.2_ENST00000555138.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AGTGTAACAGGGAAACTGACC	0.393000													12	84					0	0	0.00185496	0	0
C3orf20	84077	broad.mit.edu	37	3	14744758	14744758	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:14744758G>T	ENST00000253697.3	+	6	1319	c.867G>T	c.(865-867)ttG>ttT	p.L289F	C3orf20_ENST00000435614.1_Missense_Mutation_p.L167F|C3orf20_ENST00000412910.1_Missense_Mutation_p.L167F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	289						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGCAGGAGTTGTGTCGCCACA	0.622000													22	132					2.32416e-17	9.21466e-17	0.00229938	1	0
MSLN	10232	broad.mit.edu	37	16	815237	815237	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:815237G>A	ENST00000566549.1	+	8	1055	c.638G>A	c.(637-639)gGa>gAa	p.G213E	MSLN_ENST00000545450.2_Missense_Mutation_p.G213E|MSLN_ENST00000382862.3_Missense_Mutation_p.G213E|MSLN_ENST00000563941.1_Missense_Mutation_p.G213E			Q13421	MSLN_HUMAN	mesothelin	213					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				AGCTGCCCGGGACCCCTGGAC	0.697000													5	13					0	0	0.00116845	0	0
SVOPL	136306	broad.mit.edu	37	7	138313025	138313025	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:138313025G>A	ENST00000421622.1	-	7	795	c.587C>T	c.(586-588)tCa>tTa	p.S196L	SVOPL_ENST00000436657.1_Missense_Mutation_p.S164L|SVOPL_ENST00000419765.3_Missense_Mutation_p.S316L|SVOPL_ENST00000288513.5_Missense_Mutation_p.S164L			Q8N434	SVOPL_HUMAN	SVOP-like	316						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CGCAGAGTCTGACTTTGAACC	0.557000													18	75					0	0	0.00074312	0	0
TIMM17A	10440	broad.mit.edu	37	1	201934671	201934671	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:201934671G>A	ENST00000367287.4	+	5	466	c.430_splice	c.e5+1	p.G144_splice	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	144					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(3)|stomach(1)	5						GTTTCCCAATGGTGAGTCTTT	0.398000													12	66					0	0	0.000978159	0	0
KCNA10	3744	broad.mit.edu	37	1	111060492	111060492	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:111060492G>A	ENST00000369771.2	-	1	1305	c.918C>T	c.(916-918)atC>atT	p.I306I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	306						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGATGTCAATGATGTTCATGA	0.527000													14	77					0	0	0.000308642	0	0
KMT2B	9757	broad.mit.edu	37	19	36221442	36221442	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:36221442C>T	ENST00000222270.7	+	25	5201	c.5201C>T	c.(5200-5202)tCc>tTc	p.S1734F	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.S1734F	NM_014727.1	NP_055542.1																					ACCACAGGTTCCATCCGCATT	0.607000													45	325					0	0	0.000781405	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250261	140250261	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140250261G>A	ENST00000398640.2	+	1	1573	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGACCACGAGGAGCTGGA	0.682000													27	145					0	0	0.00127121	0	0
CCDC30	728621	broad.mit.edu	37	1	43021893	43021893	+	Silent	SNP	A	A	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:43021893A>C	ENST00000428554.2	+	12	1635	c.492A>C	c.(490-492)ccA>ccC	p.P164P	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Silent_p.P164P|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000340612.4_Silent_p.P164P			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	164										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCAGTTTTCCAAGAGAGGGGC	0.413000													4	38					0	0	0.00024832	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109548	64109548	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:64109548C>T	ENST00000356786.5	+	8	802	c.758C>T	c.(757-759)tCg>tTg	p.S253L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	253					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGGGCCCCTCGCACCATCTG	0.677000													6	19					0	0	0.00198382	0	0
NPEPPS	9520	broad.mit.edu	37	17	45668159	45668159	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:45668159C>T	ENST00000322157.4	+	10	1409	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L	NPEPPS_ENST00000544660.1_Missense_Mutation_p.P311L|NPEPPS_ENST00000530173.1_Missense_Mutation_p.P387L|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	391					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CACTGCTTCCCAGAGTATGAT	0.413000													9	128					0	0	0.000442599	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108975	90108975	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:90108975G>A	ENST00000390271.2	+	0	266																											GGGTCCCCTCGAGGTTCAGTG	0.498000													7	49					0	0	0.00198382	0	0
ZNF709	163051	broad.mit.edu	37	19	12575985	12575985	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:12575985G>A	ENST00000397732.3	-	4	922	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	ZNF709_ENST00000428311.1_Missense_Mutation_p.P251S|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATTCATAGGGTTTCTCTCCA	0.393000													6	57					0	0	0.00116845	0	0
GRK7	131890	broad.mit.edu	37	3	141499546	141499546	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:141499546C>T	ENST00000264952.2	+	2	1080	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	315	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCGTCTATCGGGACATGAA	0.587000													10	39					0	0	0.000673444	0	0
SPOCD1	90853	broad.mit.edu	37	1	32264050	32264050	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:32264050C>T	ENST00000360482.2	-	8	2150	c.2021G>A	c.(2020-2022)aGg>aAg	p.R674K	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R167K|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R674K	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	674	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CACCAGGTTCCTGGGGTCCCG	0.622000													7	63					0	0	0.00198382	0	0
LGALS9C	654346	broad.mit.edu	37	17	18389395	18389395	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:18389395C>T	ENST00000328114.6	+	3	360	c.279C>T	c.(277-279)ttC>ttT	p.F93F	LGALS9C_ENST00000584941.1_Silent_p.F93F|LGALS9C_ENST00000581545.1_Silent_p.F93F|LGALS9C_ENST00000583322.1_Silent_p.F93F|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000412421.2_Silent_p.F5F	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	93	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						ACATGCCCTTCCAGAAGGGGA	0.582000													15	32					0	0	0.000422831	0	0
PCK1	5105	broad.mit.edu	37	20	56136488	56136488	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:56136488C>T	ENST00000319441.4	+	2	185	c.21C>T	c.(19-21)aaC>aaT	p.N7N	PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	7					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGCTGCAAAACGGCCTGAACC	0.532000													21	107					0	0	0.00278032	0	0
IL23A	51561	broad.mit.edu	37	12	56733728	56733728	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:56733728C>T	ENST00000228534.4	+	4	576	c.408_splice	c.e4-1	p.P137_splice		NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	137					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						TCCTTTCAGCCTGAGGGTCAC	0.572000													17	133					0	0	0.00121646	0	0
MLLT4	4301	broad.mit.edu	37	6	168265333	168265333	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:168265333G>A	ENST00000366806.2	+	2	350	c.208G>A	c.(208-210)Gat>Aat	p.D70N	MLLT4_ENST00000344191.4_Missense_Mutation_p.D70N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D70N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D70N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D70N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D70N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D70N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	70	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CACCACTCAAGATGTAATCGA	0.438000			T	MLL	AL								46	237					0	0	0.00285205	0	0
SEC14L1	6397	broad.mit.edu	37	17	75190973	75190973	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:75190973C>T	ENST00000413679.2	+	7	992	c.689C>T	c.(688-690)cCc>cTc	p.P230L	SEC14L1_ENST00000430767.4_Missense_Mutation_p.P230L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.P230L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.P230L|SEC14L1_ENST00000591437.1_Missense_Mutation_p.P196L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.P230L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.P196L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.P230L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	230					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCACCTGAGCCCGTGGTGGGC	0.632000													20	63					0	0	0.000958276	0	0
ENAM	10117	broad.mit.edu	37	4	71509504	71509504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:71509504G>A	ENST00000396073.3	+	9	2642	c.2361G>A	c.(2359-2361)tgG>tgA	p.W787*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	787					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAAATATCTGGGATCAGGCAA	0.473000													6	47					0	0	0.000274275	0	0
NEDD4L	23327	broad.mit.edu	37	18	55992272	55992272	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:55992272C>T	ENST00000456986.1	+	9	795	c.195C>T	c.(193-195)caC>caT	p.H65H	NEDD4L_ENST00000431212.2_Silent_p.H65H|NEDD4L_ENST00000456173.2_Silent_p.H65H|NEDD4L_ENST00000400345.3_Silent_p.H186H|NEDD4L_ENST00000382850.4_Silent_p.H186H|NEDD4L_ENST00000356462.6_Silent_p.H186H|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Silent_p.H178H|NEDD4L_ENST00000256832.7_Silent_p.H65H|NEDD4L_ENST00000256830.9_Silent_p.H186H|NEDD4L_ENST00000435432.2_Silent_p.H65H|NEDD4L_ENST00000357895.5_Silent_p.H178H	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	186	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTTCTCAGCACCAAGAGGAAC	0.493000													39	224					0	0	0.00128727	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716383	13716383	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:13716383C>T	ENST00000279593.3	-	13	3998	c.3789G>A	c.(3787-3789)ctG>ctA	p.L1263L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1263					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)	CCGGCTGGTCCAGTTCCTGCA	0.592000													16	71					0	0	0.000422831	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715974	13715974	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:13715974C>T	ENST00000279593.3	-	13	4407	c.4198G>A	c.(4198-4200)Ggc>Agc	p.G1400S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1400					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)	GATTTGCTGCCATGGAGCAAG	0.637000													5	47					0	0	0.000602214	0	0
HYAL4	23553	broad.mit.edu	37	7	123509071	123509071	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:123509071C>T	ENST00000223026.4	+	3	1382	c.744C>T	c.(742-744)ctC>ctT	p.L248L	HYAL4_ENST00000476325.1_Silent_p.L248L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	248					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						ACAATGAGCTCTCTTGGCTCT	0.443000													7	142					0	0	0.00198382	0	0
LPPR1	54886	broad.mit.edu	37	9	104079698	104079698	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:104079698C>A	ENST00000374874.3	+	7	1304	c.865C>A	c.(865-867)Ccc>Acc	p.P289T	LPPR1_ENST00000395056.2_Missense_Mutation_p.P289T	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		289						integral to membrane	catalytic activity										TCCTTCCAAACCCAAGCCTGA	0.483000													28	207					7.26314e-15	2.8731e-14	0.00127121	1	0
NRXN2	9379	broad.mit.edu	37	11	64418075	64418075	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:64418075G>A	ENST00000265459.6	-	15	3415	c.2954C>T	c.(2953-2955)cCg>cTg	p.P985L	NRXN2_ENST00000377559.3_Missense_Mutation_p.P945L|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.P978L|NRXN2_ENST00000377551.1_Missense_Mutation_p.P985L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	985	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CATCAAGGACGGGCCATTCCC	0.587000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	64					0	0	0.00188189	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188182	32188182	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:32188182C>T	ENST00000375023.3	-	6	1297	c.1159_splice	c.e6+1	p.G387_splice		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	387	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACCCCCATACCTGTGCGTCCA	0.597000													49	242					0	0	0.000781405	0	0
OR4D2	124538	broad.mit.edu	37	17	56247769	56247769	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:56247769C>T	ENST00000545221.1	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCATGATCTTCGTTCCAAGCA	0.537000													11	121					0	0	0.00136819	0	0
TSG101	7251	broad.mit.edu	37	11	18528434	18528434	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:18528434G>A	ENST00000536719.1	-	6	652	c.518C>T	c.(517-519)cCa>cTa	p.P173L	TSG101_ENST00000357193.3_Missense_Mutation_p.P68L|TSG101_ENST00000251968.3_Missense_Mutation_p.P173L|TSG101_ENST00000543087.1_5'UTR			Q99816	TS101_HUMAN	tumor susceptibility 101	173					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GGATGGGTATGGAGAGATTCC	0.343000													12	84					0	0	0.000422831	0	0
EFS	10278	broad.mit.edu	37	14	23828855	23828855	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:23828855C>T	ENST00000216733.3	-	4	1439	c.832G>A	c.(832-834)Gac>Aac	p.D278N	EFS_ENST00000429593.2_Missense_Mutation_p.D109N|EFS_ENST00000351354.3_Missense_Mutation_p.D185N	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	278	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCCAGGGTGTCCTGGTCATGG	0.711000													5	40					0	0	0.00116845	0	0
SPACA1	81833	broad.mit.edu	37	6	88768457	88768457	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:88768457C>T	ENST00000237201.1	+	4	508	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	131						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TTCAGAAAGTCTTGAAAGTGT	0.313000													4	29					0	0	0.00116845	0	0
KCND2	3751	broad.mit.edu	37	7	119915597	119915597	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:119915597C>T	ENST00000331113.4	+	1	1876	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	304					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTTAAGTTTTCCCGCCACTCT	0.517000													33	48					0	0	0.00058488	0	0
OR10A4	283297	broad.mit.edu	37	11	6898467	6898467	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:6898467G>A	ENST00000379829.2	+	1	612	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTGTGTTTGAACTGGAGGC	0.498000													10	65					0	0	0.000978159	0	0
SCARF1	8578	broad.mit.edu	37	17	1538791	1538791	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:1538791G>A	ENST00000263071.4	-	11	1803	c.1754C>T	c.(1753-1755)gCc>gTc	p.A585V	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.A499V	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	585	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGCCGCTTGGCCCGAGCTAG	0.672000													19	98					0	0	0.00229938	0	0
OR5T3	390154	broad.mit.edu	37	11	56020261	56020261	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:56020261C>T	ENST00000303059.3	+	1	586	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TACATTTAGCCTGTCCTTCTG	0.433000													20	125					0	0	0.00152264	0	0
PLS1	5357	broad.mit.edu	37	3	142430824	142430824	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:142430824G>A	ENST00000337777.3	+	16	2078	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	PLS1_ENST00000497002.1_Missense_Mutation_p.G622E|PLS1_ENST00000457734.2_Missense_Mutation_p.G622E	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	622	Actin-binding 2.|CH 4.					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						TGCTTAATGGGAAAAGGACTG	0.388000													18	85					0	0	0.00121646	0	0
TAF1L	138474	broad.mit.edu	37	9	32630177	32630177	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:32630177C>T	ENST00000242310.4	-	1	5490	c.5401G>A	c.(5401-5403)Gga>Aga	p.G1801R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1801					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCACCATATCCCACATCAGAG	0.468000													12	72					0	0	0.00185496	0	0
BRINP1	1620	broad.mit.edu	37	9	121929643	121929643	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:121929643G>A	ENST00000265922.3	-	8	2466	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		669					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCACTGCGCAGGAGGTCGGCG	0.572000													21	137					0	0	0.00188189	0	0
COL21A1	81578	broad.mit.edu	37	6	55925592	55925592	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:55925592C>T	ENST00000244728.5	-	27	2751	c.2352_splice	c.e27-1	p.G785_splice	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Splice_Site_p.G782_splice|COL21A1_ENST00000370808.2_Splice_Site_p.G185_splice|COL21A1_ENST00000535941.1_Splice_Site_p.G785_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	785	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAACTCTCTTCCCTGCATCAA	0.318000													4	12					0	0	0.000602214	0	0
ZNF521	25925	broad.mit.edu	37	18	22804971	22804971	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:22804971G>A	ENST00000361524.3	-	4	3059	c.2911C>T	c.(2911-2913)Ctt>Ttt	p.L971F	ZNF521_ENST00000538137.2_Missense_Mutation_p.L971F|ZNF521_ENST00000584787.1_Missense_Mutation_p.L751F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	971					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGAGTTAAAAGGGAGGGAAAC	0.478000			T	PAX5	ALL								16	61					0	0	0.000422831	0	0
PTPN22	26191	broad.mit.edu	37	1	114380623	114380623	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:114380623C>T	ENST00000359785.5	-	13	1534	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	PTPN22_ENST00000538253.1_Missense_Mutation_p.E223K|PTPN22_ENST00000528414.1_Missense_Mutation_p.E412K|PTPN22_ENST00000525799.1_Missense_Mutation_p.E340K|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.E467K	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	467					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	p.E467K(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAGTTTTCCTTGCTGTCC	0.373000													7	78					0	0	0.000274275	0	0
ACTN4	81	broad.mit.edu	37	19	39191312	39191312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:39191312C>T	ENST00000252699.2	+	2	311	c.235C>T	c.(235-237)Cga>Tga	p.R79*	ACTN4_ENST00000424234.2_Nonsense_Mutation_p.R79*|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	79	Actin-binding.|CH 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGAGGACTTCCGAGACGGGCT	0.607000													8	40					0	0	0.000274275	0	0
SPEN	23013	broad.mit.edu	37	1	16199550	16199550	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:16199550G>A	ENST00000375759.3	+	2	527	c.323G>A	c.(322-324)aGa>aAa	p.R108K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	108					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTGGGTTCAGAGGAGGTGGT	0.527000													10	89					0	0	0.000442599	0	0
KCND3	3752	broad.mit.edu	37	1	112329723	112329723	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:112329723C>T	ENST00000369697.1	-	2	1181	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	KCND3_ENST00000315987.2_Missense_Mutation_p.G371E|KCND3_ENST00000302127.4_Missense_Mutation_p.G371E			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	371						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CACCATGTCTCCGTATCTGAG	0.522000													6	74					0	0	0.000157383	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612490	96612490	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:96612490G>A	ENST00000371321.3	+	9	1374	c.1291_splice	c.e9-1	p.G431_splice	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	431					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTATTTTCAGGAAAACGGATT	0.423000													4	30					0	0	0.00024832	0	0
NLRP14	338323	broad.mit.edu	37	11	7091610	7091610	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:7091610G>A	ENST00000299481.4	+	11	3415	c.3069G>A	c.(3067-3069)caG>caA	p.Q1023Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1023					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATCTGACACAGAATACCTTAG	0.383000													9	40					0	0	0.000274275	0	0
ZNF235	9310	broad.mit.edu	37	19	44791801	44791801	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:44791801T>G	ENST00000291182.4	-	5	1889	c.1787A>C	c.(1786-1788)gAa>gCa	p.E596A	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAATGGTTTTTCCCCAGTGTG	0.483000													10	66					0	0	0.000673444	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946262	46946262	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:46946262G>A	ENST00000429979.1	-	3	953	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P117S|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P117S|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P117S|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.P117S|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P50S|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000322896.6_Intron	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	117	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GAGCCATGGGGAGAAGCGCTG	0.582000													9	69					0	0	0.000274275	0	0
MTERFD3	80298	broad.mit.edu	37	12	107372306	107372306	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:107372306G>A	ENST00000552029.1	-	2	2255	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	MTERFD3_ENST00000392830.2_Missense_Mutation_p.R63C|MTERFD3_ENST00000240050.4_Missense_Mutation_p.R63C|C12orf23_ENST00000551237.1_3'UTR			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	63					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						TTTAATCTACGAATTTTCCTA	0.368000													14	97					0	0	0.000422831	0	0
SUPT16H	11198	broad.mit.edu	37	14	21836515	21836515	+	Silent	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:21836515A>G	ENST00000216297.2	-	7	1206	c.868T>C	c.(868-870)Ttg>Ctg	p.L290L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	290					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCAACCATCAAAGTGCGAACA	0.423000													7	50					0	0	0.00198382	0	0
KLK8	11202	broad.mit.edu	37	19	51504413	51504413	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:51504413G>A	ENST00000600767.1	-	3	500	c.11C>T	c.(10-12)cCc>cTc	p.P4L	KLK8_ENST00000347619.4_Missense_Mutation_p.P4L|KLK8_ENST00000593490.1_Missense_Mutation_p.P4L|KLK9_ENST00000376832.4_3'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.P4L|KLK8_ENST00000320838.5_Missense_Mutation_p.P4L|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.P4L			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	4					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)		ACGAGGTCGGGGGCGTCCCAT	0.657000													4	33					0	0	0.00024832	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967407	106967407	+	RNA	SNP	T	T	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:106967407T>A	ENST00000390622.2	-	0	350																											AAAAAATCCCTTCCTCAGCCC	0.552000													12	55					0	0	0.00244969	0	0
TIMM22	29928	broad.mit.edu	37	17	900467	900467	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:900467C>T	ENST00000327158.3	+	1	111	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	29					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAGCCTGCTCCTGCAGTACCT	0.672000													11	36					0	0	0.00185496	0	0
HYKK	123688	broad.mit.edu	37	15	78825602	78825602	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:78825602A>C	ENST00000388988.4	+	5	825	c.712A>C	c.(712-714)Aag>Cag	p.K238Q	HYKK_ENST00000569878.1_Missense_Mutation_p.K238Q|HYKK_ENST00000408962.2_Intron|HYKK_ENST00000563233.1_Intron	NM_001013619.2	NP_001013641.2			hydroxylysine kinase																		AGAGTCCAGCAAGTCAGCCTC	0.353000													9	45					0	0	0.000673444	0	0
MAGI2	9863	broad.mit.edu	37	7	77755082	77755082	+	Missense_Mutation	SNP	C	C	T	rs139559003		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:77755082C>T	ENST00000354212.4	-	20	3749	c.3496G>A	c.(3496-3498)Gaa>Aaa	p.E1166K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E1166K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E1152K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1166	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding	p.E1166K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATTTTGTATTCCCTTCCTCCA	0.413000													13	53					0	0	0.00185496	0	0
TIMM17A	10440	broad.mit.edu	37	1	201934672	201934672	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:201934672G>A	ENST00000367287.4	+	5	466		c.e5+1		TIMM17A_ENST00000482943.1_Splice_Site	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)						protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(3)|stomach(1)	5						TTTCCCAATGGTGAGTCTTTT	0.393000													12	63					0	0	0.000978159	0	0
ZNF558	148156	broad.mit.edu	37	19	8921958	8921958	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:8921958C>T	ENST00000601372.1	-	10	1919	c.1208G>A	c.(1207-1209)tGa>tAa	p.*403*	ZNF558_ENST00000444186.2_Silent_p.*332*|ZNF558_ENST00000301475.1_Silent_p.*403*			Q96NG5	ZN558_HUMAN	zinc finger protein 558	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TGCAGTAATTCATATCCATCT	0.378000													6	41					0	0	0.00116845	0	0
ZNF85	7639	broad.mit.edu	37	19	21131569	21131569	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:21131569C>T	ENST00000601023.1	+	2	718	c.72C>T	c.(70-72)gcC>gcT	p.A24A	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.A50A|ZNF85_ENST00000328178.8_Silent_p.A83A			Q03923	ZNF85_HUMAN	zinc finger protein 85	83	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTCATTTTGCCCAAGACCTTT	0.299000													4	50					0	0	0.000602214	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215068	140215068	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140215068C>T	ENST00000525929.1	+	1	1100	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T367I	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCAGGTACCGTCATCACA	0.512000													29	137					0	0	0.00106085	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673303	25673303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:25673303G>A	ENST00000382051.3	+	9	1058	c.1008G>A	c.(1006-1008)tgG>tgA	p.W336*	SLC34A2_ENST00000504570.1_Nonsense_Mutation_p.W335*|SLC34A2_ENST00000503434.1_Nonsense_Mutation_p.W335*	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	336					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCAAAACTGGACCATGAAGA	0.498000			T	ROS1	NSCLC								31	164					0	0	0.00178596	0	0
FCGBP	8857	broad.mit.edu	37	19	40366477	40366477	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:40366477C>T	ENST00000221347.6	-	30	13764	c.13757G>A	c.(13756-13758)gGg>gAg	p.G4586E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4586	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGCGAGAGCCCTGAGGTTGT	0.667000													15	66					0	0	0.000308642	0	0
SIRPG	55423	broad.mit.edu	37	20	1616836	1616836	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:1616836C>T	ENST00000381580.1	-	3	826	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	SIRPG_ENST00000303415.3_Missense_Mutation_p.R249Q|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.R249Q|SIRPG_ENST00000216927.4_Missense_Mutation_p.R249Q			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	249	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCCTCTACCTCGGATGGCCTC	0.622000													8	55					0	0	0.000442599	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958550	92958550	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:92958550C>T	ENST00000532405.1	+	16	1908	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	SLC24A4_ENST00000351924.5_Missense_Mutation_p.S525F|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S542F|SLC24A4_ENST00000393265.2_Missense_Mutation_p.S497F|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S544F			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	561						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTGGTCTATTCCGTGGTCCTG	0.512000													26	162					0	0	0.00127121	0	0
SHANK2	22941	broad.mit.edu	37	11	70348958	70348958	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:70348958G>A	ENST00000338508.4	-	24	2142	c.2143C>T	c.(2143-2145)Ctt>Ttt	p.L715F	SHANK2_ENST00000449833.2_Missense_Mutation_p.L126F|SHANK2_ENST00000409530.1_Missense_Mutation_p.L125F|SHANK2_ENST00000423696.2_Missense_Mutation_p.L335F|SHANK2_ENST00000357171.3_Missense_Mutation_p.L126F|SHANK2_ENST00000409161.1_Missense_Mutation_p.L125F|SHANK2_ENST00000449116.2_Missense_Mutation_p.L126F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	335					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCACCTTAAGGACCAGGTGA	0.587000													17	104					0	0	0.000958276	0	0
NOL3	8996	broad.mit.edu	37	16	67208641	67208641	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:67208641G>A	ENST00000432069.2	+	5	985	c.413G>A	c.(412-414)gGc>gAc	p.G138D	NOL3_ENST00000268605.7_Missense_Mutation_p.G138D|NOL3_ENST00000568146.1_Missense_Mutation_p.A135T|NOL3_ENST00000564053.1_Missense_Mutation_p.G200D	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	138					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GAGGCCGGGGGCCCTGAGGGC	0.697000													5	22					0	0	0.000602214	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808297	18808297	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:18808297C>T	ENST00000400664.1	+	1	874	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	274						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGCATTTCATACAGAAGG	0.592000													26	113					0	0	0.00178596	0	0
MAP3K15	389840	broad.mit.edu	37	X	19378893	19378893	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:19378893C>A	ENST00000338883.4	-	29	3915	c.3916G>T	c.(3916-3918)Gcc>Tcc	p.A1306S	MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.A741S|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A1138S	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1306							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTTTCTGAGGCCTCCTGAGCC	0.502000													6	22					8.12818e-05	0.000316854	0.00198382	1	0
TNR	7143	broad.mit.edu	37	1	175355337	175355337	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:175355337C>T	ENST00000367674.1	-	8	2316	c.1608G>A	c.(1606-1608)ttG>ttA	p.L536L	TNR_ENST00000263525.2_Silent_p.L536L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	536	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCCATATTTCAAAAGAATGA	0.597000													7	20					0	0	0.000157383	0	0
SCN10A	6336	broad.mit.edu	37	3	38738847	38738847	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:38738847C>T	ENST00000449082.2	-	27	5863	c.5864G>A	c.(5863-5865)gGg>gAg	p.G1955E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1955					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACTAGGGCCCAGGGGCAAT	0.483000													13	79					0	0	0.00244969	0	0
METTL24	728464	broad.mit.edu	37	6	110620292	110620292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:110620292G>A	ENST00000338882.4	-	4	618	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	207						extracellular region											GGATCAAAACGATGCACTTCA	0.468000													17	72					0	0	0.000566183	0	0
BCL11A	53335	broad.mit.edu	37	2	60688062	60688062	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:60688062C>T	ENST00000335712.6	-	4	2212	c.1985G>A	c.(1984-1986)gGc>gAc	p.G662D	BCL11A_ENST00000537768.1_Missense_Mutation_p.G331D|BCL11A_ENST00000356842.4_Missense_Mutation_p.G662D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.G628D|BCL11A_ENST00000538214.1_Missense_Mutation_p.G628D	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	662					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGCCGCGTAGCCGGCGAGCCA	0.622000			T	IGH@	B-CLL								48	319					0	0	0.000781405	0	0
FAM183B	340286	broad.mit.edu	37	7	38725419	38725419	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:38725419C>T	ENST00000409072.3	-	2	1121	c.187G>A	c.(187-189)Gca>Aca	p.A63T						family with sequence similarity 183, member B									p.A63S(2)		endometrium(1)|lung(7)	8						CTGGCGTCTGCGGGTTCCTCC	0.537000													16	74					0	0	0.000422831	0	0
ERCC6	2074	broad.mit.edu	37	10	50740647	50740647	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:50740647G>A	ENST00000355832.5	-	2	442	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R122C|PGBD3_ENST00000603152.1_Missense_Mutation_p.R122C|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R122C	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	122					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGGAGGCACGGCTGGCCTCA	0.572000								Direct reversal of damage;Nucleotide excision repair (NER)					7	66					0	0	0.000157383	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334850	142334850	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142334850C>T	ENST00000390394.3	+	0	350																											CTGACCTTGTCCACTCTGACA	0.547000													38	72					0	0	0.000953801	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45244822	45244822	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr22:45244822G>A	ENST00000517296.3	+	15	1389	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	ARHGAP8_ENST00000356099.6_Silent_p.V253V|ARHGAP8_ENST00000389774.2_Silent_p.V284V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V384V|ARHGAP8_ENST00000336963.4_Silent_p.V253V|ARHGAP8_ENST00000389773.5_Silent_p.V375V|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V463V					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GGAAGCCCGTGAACTTTGACG	0.617000													17	108					0	0	0.000422831	0	0
KAL1	3730	broad.mit.edu	37	X	8507772	8507772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:8507772C>T	ENST00000262648.3	-	10	1531	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	461	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGGAAACCACCGCACATGATA	0.478000													10	26					0	0	0.000978159	0	0
ARID3B	10620	broad.mit.edu	37	15	74887989	74887989	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:74887989C>T	ENST00000346246.5	+	9	1788	c.1557C>T	c.(1555-1557)atC>atT	p.I519I		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCCACCTCATCACGGGGTCTG	0.637000													7	41					0	0	0.00198382	0	0
LRRN1	57633	broad.mit.edu	37	3	3886533	3886533	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:3886533C>T	ENST00000319331.3	+	2	969	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	70	LRRNT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCCCAGTAACCTCTCTAGTGA	0.453000													6	62					0	0	0.00116845	0	0
CNGB1	1258	broad.mit.edu	37	16	57918086	57918086	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:57918086C>T	ENST00000564448.1	-	33	3780	c.3720G>A	c.(3718-3720)agG>agA	p.R1240R	CNGB1_ENST00000251102.8_Silent_p.R1246R			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1246					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCTTCTCCTCCCTTTCCTCCG	0.711000													13	87					0	0	0.000422831	0	0
PTPRS	5802	broad.mit.edu	37	19	5246048	5246048	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:5246048C>T	ENST00000372412.4	-	10	963	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	PTPRS_ENST00000262963.6_Missense_Mutation_p.V239M|PTPRS_ENST00000592099.1_Missense_Mutation_p.V230M|PTPRS_ENST00000348075.2_Missense_Mutation_p.V230M|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.V243M|PTPRS_ENST00000588012.1_Missense_Mutation_p.V230M|PTPRS_ENST00000587303.1_Missense_Mutation_p.V243M|PTPRS_ENST00000353284.2_Missense_Mutation_p.V230M			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	243					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGCGGGGCCACGCGGCGGACT	0.677000													4	9					0	0	0.00024832	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460440	160460440	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:160460440G>A	ENST00000368059.3	-	4	751	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	SLAMF6_ENST00000368057.3_Silent_p.L228L|SLAMF6_ENST00000368055.1_Silent_p.L117L	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	228						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)			ACCATAAACAGAATCATTTTG	0.368000													4	28					0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179572470	179572470	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:179572470C>T	ENST00000589042.1	-	100	29048	c.28824G>A	c.(28822-28824)caG>caA	p.Q9608Q	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.Q8364Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.Q9291Q|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9291							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)			GGCAGCTGAGCTGCACGTATT	0.463000													5	61					0	0	0.000602214	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130289092	130289092	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:130289092G>A	ENST00000257359.6	-	2	1522	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	272	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CATCTTCTACGATCAGCACTT	0.527000													25	128					0	0	0.000720815	0	0
KCNK5	8645	broad.mit.edu	37	6	39159209	39159209	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:39159209C>T	ENST00000359534.3	-	5	1295	c.957G>A	c.(955-957)ggG>ggA	p.G319G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	319					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCCCGTCTCCCCACCCCCGC	0.617000													13	98					0	0	0.00185496	0	0
FLG	2312	broad.mit.edu	37	1	152283934	152283934	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:152283934C>T	ENST00000368799.1	-	3	3463	c.3428G>A	c.(3427-3429)gGa>gAa	p.G1143E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1143	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGTGGGATCCTTGTCTTCG	0.597000									Ichthyosis				50	250					0	0	0.000781405	0	0
SCD5	79966	broad.mit.edu	37	4	83582217	83582217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:83582217G>A	ENST00000273908.4	-	4	817	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	SCD5_ENST00000319540.4_Intron	NM_024906.2	NP_079182.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	0					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.Q195K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCTTCTTTCTGGATGTGCTGT	0.423000													27	184					0	0	0.00106085	0	0
ZNF8	7554	broad.mit.edu	37	19	58806168	58806168	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:58806168C>T	ENST00000196548.5	+	4	1125	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TACCGTCCATCGGAGGATTCA	0.572000													8	59					0	0	0.000157383	0	0
OR1A2	26189	broad.mit.edu	37	17	3101608	3101608	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:3101608A>T	ENST00000381951.1	+	1	796	c.796A>T	c.(796-798)Agc>Tgc	p.S266C		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GACCAGTTACAGCCCCAAAGA	0.448000													11	126					0	0	0.000978159	0	0
TRAF5	7188	broad.mit.edu	37	1	211526699	211526699	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:211526699G>A	ENST00000261464.5	+	2	172	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	TRAF5_ENST00000367004.3_Missense_Mutation_p.E40K|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Missense_Mutation_p.E40K|TRAF5_ENST00000336184.2_Missense_Mutation_p.E40K	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	40					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GGAGCGGTTGGAAGAGCGCTA	0.547000													21	121					0	0	0.00152264	0	0
MC5R	4161	broad.mit.edu	37	18	13826627	13826627	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:13826627C>T	ENST00000324750.3	+	1	1085	c.863C>T	c.(862-864)tCc>tTc	p.S288F		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	288					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATGTGTAATTCCGTGATGGAC	0.458000													11	135					0	0	0.00136819	0	0
HSD11B1	3290	broad.mit.edu	37	1	209905834	209905834	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:209905834G>A	ENST00000367028.2	+	6	740	c.571G>A	c.(571-573)Gat>Aat	p.D191N	HSD11B1_ENST00000367027.3_Missense_Mutation_p.D191N|HSD11B1_ENST00000261465.1_Missense_Mutation_p.D191N	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	191					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GTTTGCTTTGGATGGGTTCTT	0.428000													20	89					0	0	0.00229938	0	0
TET2	54790	broad.mit.edu	37	4	106157278	106157278	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:106157278G>A	ENST00000513237.1	+	3	3039	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	TET2_ENST00000394764.1_Missense_Mutation_p.A727T|TET2_ENST00000413648.2_Missense_Mutation_p.A727T|TET2_ENST00000380013.4_Missense_Mutation_p.A727T|TET2_ENST00000545826.1_Missense_Mutation_p.A727T|TET2_ENST00000305737.2_Missense_Mutation_p.A727T|TET2_ENST00000540549.1_Missense_Mutation_p.A727T			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	727	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A727fs*23(1)|p.A727T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCATAAACAGGCAGCACAAAC	0.408000			"""Mis N, F"""		MDS								6	52					0	0	0.000274275	0	0
MFSD9	84804	broad.mit.edu	37	2	103335119	103335119	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:103335119G>A	ENST00000258436.5	-	6	1228	c.1185C>T	c.(1183-1185)atC>atT	p.I395I		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	395					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGAGGTCCGTGATGCACGTCC	0.647000													9	45					0	0	0.000274275	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454787	96454787	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:96454787G>A	ENST00000285979.6	+	4	794	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E199K|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TAACTTGATGGAAAAATTCAA	0.388000													7	34					0	0	0.000274275	0	0
TRBC2	28638	broad.mit.edu	37	7	142499844	142499844	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:142499844G>A	ENST00000466254.1	+	0	461																											TCTTGCTAGGGAAGGCCACCT	0.567000													9	75					0	0	0.000978159	0	0
FBN2	2201	broad.mit.edu	37	5	127626458	127626458	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:127626458C>T	ENST00000508053.1	-	56	7385	c.6411G>A	c.(6409-6411)ggG>ggA	p.G2137G	FBN2_ENST00000262464.4_Silent_p.G2137G			P35556	FBN2_HUMAN	fibrillin 2	2137	TB 8.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGGGGTCCCCCCAGCCCT	0.463000													9	79					0	0	0.000978159	0	0
ATP8A1	10396	broad.mit.edu	37	4	42415007	42415007	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:42415007C>T	ENST00000381668.5	-	37	3652	c.3421G>A	c.(3421-3423)Gaa>Aaa	p.E1141K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E1126K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1141					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATTCCATTTTCATCTTGAGAG	0.433000													5	22					0	0	0.000602214	0	0
DNAH3	55567	broad.mit.edu	37	16	21031009	21031009	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:21031009C>T	ENST00000261383.3	-	41	5958	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1987					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGTTATCATCCATGCCCATG	0.423000													7	46					0	0	0.000157383	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748170	19748170	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:19748170C>T	ENST00000400113.3	-	5	1290	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	396					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			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)		TACATGAGATCGAACTTATGG	0.642000													14	116					0	0	0.000422831	0	0
BPGM	669	broad.mit.edu	37	7	134346736	134346736	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:134346736G>A	ENST00000393132.2	+	3	966	c.477G>A	c.(475-477)aaG>aaA	p.K159K	BPGM_ENST00000418040.1_Silent_p.K159K|BPGM_ENST00000344924.3_Silent_p.K159K	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	159					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						AAAGCTTAAAGGATGTTCTGG	0.448000													11	77					0	0	0.00136819	0	0
LIN28B	389421	broad.mit.edu	37	6	105474224	105474224	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:105474224G>A	ENST00000345080.4	+	3	453	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	84	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGAACCAGTGGAATTCACATT	0.418000													21	111					0	0	0.00278032	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715747	13715747	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:13715747C>T	ENST00000279593.3	-	13	4634	c.4425G>A	c.(4423-4425)gaG>gaA	p.E1475E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1475					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)	TAGAAAGTTTCTCATAAACAT	0.507000													15	127					0	0	0.000422831	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408642	105408642	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:105408642C>T	ENST00000333244.5	-	7	13265	c.13146G>A	c.(13144-13146)ccG>ccA	p.P4382P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4382						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGCAGCTTCGGCAGGTGCC	0.602000													25	102					0	0	0.000586117	0	0
LAMA2	3908	broad.mit.edu	37	6	129635944	129635944	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:129635944G>A	ENST00000421865.2	+	24	3604		c.e24+1			NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGGACGTGGGTGAGTAGGGA	0.483000													19	77					0	0	0.00047179	0	0
DRAM2	128338	broad.mit.edu	37	1	111667496	111667496	+	Silent	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:111667496A>G	ENST00000286692.4	-	5	824	c.207T>C	c.(205-207)gcT>gcC	p.A69A	DRAM2_ENST00000539140.1_Silent_p.A69A|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	69					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						CATAAATGGTAGCAATGCCTG	0.358000													4	16					0	0	0.000602214	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278772	130278772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:130278772C>T	ENST00000257359.6	-	7	2520	c.1814G>A	c.(1813-1815)gGg>gAg	p.G605E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	605	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.G634E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAGGAGATTCCCGTCCATGTC	0.557000													15	92					0	0	0.000308642	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164020	141164020	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:141164020G>A	ENST00000514251.1	+	4	3069	c.2790G>A	c.(2788-2790)caG>caA	p.Q930Q	ZBTB38_ENST00000321464.5_Silent_p.Q931Q|ZBTB38_ENST00000441582.2_Silent_p.Q930Q			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	930					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AATCCAGACAGTTGAAAAAAA	0.483000													5	42					0	0	0.000602214	0	0
NPAP1	23742	broad.mit.edu	37	15	24922815	24922815	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr15:24922815C>T	ENST00000329468.2	+	1	2275	c.1801C>T	c.(1801-1803)Cca>Tca	p.P601S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GAGCTCTCTCCCAAATTCCCA	0.468000													15	73					0	0	0.00244969	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997290	82997290	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:82997290G>A	ENST00000307792.3	-	17	2407	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	SEMA3E_ENST00000427262.1_Missense_Mutation_p.S587L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	647	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCCAGCATCTGATTTGTGTAA	0.428000													8	53					0	0	0.000274275	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121807	73121807	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:73121807C>T	ENST00000373189.5	+	6	922	c.870C>T	c.(868-870)ttC>ttT	p.F290F	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	290					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTCCAGATTCATTGATTCCC	0.577000													8	52					0	0	0.000157383	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912571	29912571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:29912571G>A	ENST00000308748.5	+	1	531	c.279G>A	c.(277-279)tgG>tgA	p.W93*	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	93					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGTTCCTCTGGTACTGCTACC	0.682000													14	73					0	0	0.00244969	0	0
OR2G2	81470	broad.mit.edu	37	1	247752184	247752184	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:247752184C>T	ENST00000320065.1	+	1	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R175C(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGGGCATCGCCAAGTGGA	0.557000													15	81					0	0	0.000308642	0	0
HAL	3034	broad.mit.edu	37	12	96371823	96371823	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:96371823G>A	ENST00000261208.3	-	18	1921	c.1553C>T	c.(1552-1554)tCt>tTt	p.S518F	HAL_ENST00000541929.1_Missense_Mutation_p.S310F|HAL_ENST00000538703.1_Missense_Mutation_p.S518F	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	518					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGAGTCAACAGACGAGGGATG	0.572000													6	48					0	0	0.00116845	0	0
PITPNM2	57605	broad.mit.edu	37	12	123477212	123477212	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:123477212G>A	ENST00000280562.5	-	15	2443	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	PITPNM2_ENST00000320201.4_Silent_p.F746F|PITPNM2_ENST00000392428.1_Silent_p.F467F|PITPNM2_ENST00000542749.1_Silent_p.F746F			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	746	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCCGCAGCTGGAAAACTGGGG	0.662000													8	58					0	0	0.000157383	0	0
BAGE2	85319	broad.mit.edu	37	21	11047514	11047514	+	RNA	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:11047514C>T	ENST00000470054.1	-	0	740									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTACAGATTTCATAATTCGTT	0.348000													7	333					0	0	0.00198382	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633880	70633880	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:70633880C>T	ENST00000381269.2	-	2	2013	c.1260G>A	c.(1258-1260)agG>agA	p.R420R	SLC8A3_ENST00000356921.2_Silent_p.R420R|SLC8A3_ENST00000357887.3_Silent_p.R420R|SLC8A3_ENST00000528359.1_Silent_p.R420R|SLC8A3_ENST00000534137.1_Silent_p.R420R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	420	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCCCCCTTTCCTCACCACTG	0.512000													9	81					0	0	0.000673444	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:241262011G>A	ENST00000366565.1	-	3	511	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000446183.2_5'UTR	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000													7	39					0	0	0.000274275	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770048	112770048	+	Silent	SNP	C	C	T	rs139038807		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:112770048C>T	ENST00000390666.3	-	1	680	c.489G>A	c.(487-489)cgG>cgA	p.R163R	CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	163	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R163R(2)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CACTGTCATCCCGCAGGCAGC	0.572000													7	34					0	0	0.000157383	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182517	100182517	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:100182517C>T	ENST00000554176.1	+	4	1095	c.429C>T	c.(427-429)ttC>ttT	p.F143F	CYP46A1_ENST00000261835.3_Silent_p.F296F|CYP46A1_ENST00000423126.2_Silent_p.F199F			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	296					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGACAACTTCGTCACCTTCT	0.542000													9	66					0	0	0.000978159	0	0
POTEF	728378	broad.mit.edu	37	2	130832798	130832798	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:130832798C>T	ENST00000357462.5	-	15	2340	c.2247G>A	c.(2245-2247)caG>caA	p.Q749Q	POTEF_ENST00000409914.2_Silent_p.Q749Q			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	749	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGGACTCTTTCTGATGCATGC	0.617000													17	80					0	0	0.000422831	0	0
TAF2	6873	broad.mit.edu	37	8	120801086	120801086	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:120801086C>A	ENST00000378164.2	-	13	1925	c.1627G>T	c.(1627-1629)Gtc>Ttc	p.V543F		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	543					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTTCCAAGACATTTCGTTTT	0.348000													10	68					6.40141e-05	0.0002501	0.000978159	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960361	73960361	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:73960361G>A	ENST00000373468.1	-	3	4682	c.4031C>T	c.(4030-4032)cCc>cTc	p.P1344L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1344L			Q5QGS0	K2022_HUMAN	KIAA2022	1344					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGCTCCATGGGTTCCCAAAG	0.478000													5	17					0	0	0.000602214	0	0
MMP3	4314	broad.mit.edu	37	11	102710958	102710958	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:102710958G>A	ENST00000299855.5	-	6	1072	c.816C>T	c.(814-816)acC>acT	p.T272T		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	272					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GTACCAGGGGGGTCTCAGGGG	0.522000													5	35					0	0	0.000602214	0	0
ALKBH1	8846	broad.mit.edu	37	14	78174243	78174243	+	Silent	SNP	G	G	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:78174243G>T	ENST00000216489.3	-	1	120	c.105C>A	c.(103-105)ccC>ccA	p.P35P		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	35					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTGCGGTCCCGGGCCGGCTCT	0.667000													9	60					1.12685e-05	4.41741e-05	0.000274275	1	0
FER1L6	654463	broad.mit.edu	37	8	125029953	125029953	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:125029953G>A	ENST00000522917.1	+	16	2214	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E670K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	670						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGCTGGCAGGAGCTGGTATG	0.388000													14	37					0	0	0.00185496	0	0
SUPT6H	6830	broad.mit.edu	37	17	27022499	27022499	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:27022499G>A	ENST00000314616.6	+	29	4187	c.3904G>A	c.(3904-3906)Gac>Aac	p.D1302N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D1302N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1302					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CACCTACTATGACTTTGATGC	0.542000													11	35					0	0	0.000673444	0	0
RNFT2	84900	broad.mit.edu	37	12	117271707	117271707	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:117271707C>T	ENST00000257575.4	+	8	1226	c.993C>T	c.(991-993)ttC>ttT	p.F331F	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000392549.2_Silent_p.F331F|RNFT2_ENST00000407967.3_Silent_p.F331F			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	331						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ACAGCTACTTCCTGGGCGGGG	0.592000													6	33					0	0	0.000157383	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526320	35526320	+	Nonsense_Mutation	SNP	G	G	A	rs149846637		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:35526320G>A	ENST00000262878.4	-	15	1850	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	551					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAATATACTCGAATCAGCTGC	0.408000													9	110					0	0	0.000274275	0	0
HAS3	3038	broad.mit.edu	37	16	69143412	69143412	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:69143412G>A	ENST00000306560.1	+	2	270	c.114G>A	c.(112-114)acG>acA	p.T38T	HAS3_ENST00000219322.3_Silent_p.T38T|HAS3_ENST00000569188.1_Silent_p.T38T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	38					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCATCCACACGGAAAAGCACT	0.622000													7	44					0	0	0.00198382	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819891	159819891	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:159819891G>A	ENST00000497452.1	-	0	517																											TATCAGCAAGGATGATTCTGA	0.408000													7	46					0	0	0.00198382	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995973	57995973	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:57995973G>A	ENST00000316770.2	-	1	417	c.375C>T	c.(373-375)gaC>gaT	p.D125D		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CCACATAGCGGTCATAGGCCA	0.607000													5	37					0	0	0.00198382	0	0
ENO3	2027	broad.mit.edu	37	17	4860303	4860303	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:4860303C>T	ENST00000323997.6	+	12	1398	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	ENO3_ENST00000518175.1_Silent_p.I422I|ENO3_ENST00000519584.1_Silent_p.I379I	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	422					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						ACAAGGCAATCTTTGCTGGAC	0.572000											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	135					0	0	0.00121646	0	0
EIF4B	1975	broad.mit.edu	37	12	53413733	53413733	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:53413733G>A	ENST00000262056.9	+	4	726	c.400G>A	c.(400-402)Gag>Aag	p.E134K	EIF4B_ENST00000416762.3_Intron|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.E134K	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	134	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.E134Q(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGCAATCCAGAGAGGTTGAA	0.423000													6	33					0	0	0.00198382	0	0
ITPKC	80271	broad.mit.edu	37	19	41224032	41224032	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:41224032T>A	ENST00000263370.2	+	1	1025	c.992T>A	c.(991-993)aTc>aAc	p.I331N		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	331	Nuclear export signal (By similarity).					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCCGCCTCATCATTACCCCT	0.632000													9	80					0	0	0.000673444	0	0
SCLY	51540	broad.mit.edu	37	2	238976788	238976788	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:238976788C>T	ENST00000254663.6	+	3	451	c.309C>T	c.(307-309)ttC>ttT	p.F103F	SCLY_ENST00000409736.2_Silent_p.F95F|SCLY_ENST00000422984.2_Intron|SCLY_ENST00000429612.2_Silent_p.F95F|SCLY_ENST00000373332.3_5'UTR|SCLY_ENST00000555827.1_Silent_p.F95F|UBE2F-SCLY_ENST00000449191.1_3'UTR|SCLY_ENST00000480859.1_3'UTR	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	95					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATATAATCTTCACTTCCGGGG	0.413000													10	47					0	0	0.000978159	0	0
XIRP1	165904	broad.mit.edu	37	3	39230536	39230536	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:39230536G>A	ENST00000340369.3	-	2	629	c.401C>T	c.(400-402)tCc>tTc	p.S134F	XIRP1_ENST00000396251.1_Missense_Mutation_p.S134F|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	134							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTGGCAAAGGAGCCTTCCTC	0.612000													16	59					0	0	0.000566183	0	0
KRT15	3866	broad.mit.edu	37	17	39673104	39673104	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:39673104C>T	ENST00000254043.3	-	3	4279	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	KRT15_ENST00000393974.3_Missense_Mutation_p.G67S|KRT15_ENST00000393981.3_Missense_Mutation_p.G67S|KRT15_ENST00000393976.2_Missense_Mutation_p.G232S	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	232	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCATTCAGGCCCTCGATCTGC	0.622000													9	62					0	0	0.000978159	0	0
PITPNM1	9600	broad.mit.edu	37	11	67264878	67264878	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:67264878G>A	ENST00000356404.3	-	14	2195	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	PITPNM1_ENST00000436757.2_Missense_Mutation_p.S657F|PITPNM1_ENST00000534749.1_Missense_Mutation_p.S657F	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	657					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGCTCCCAGGAGGAGGTGGT	0.682000													8	56					0	0	0.000157383	0	0
C8B	732	broad.mit.edu	37	1	57411609	57411609	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:57411609G>A	ENST00000543257.1	-	8	1400	c.834C>T	c.(832-834)taC>taT	p.Y278Y	C8B_ENST00000371237.4_Silent_p.Y330Y|C8B_ENST00000535057.1_Silent_p.Y268Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	330	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.Y330Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTATTCCCCGTAGCTGTACT	0.493000													6	55					0	0	0.00116845	0	0
PER3	8863	broad.mit.edu	37	1	7887212	7887212	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:7887212C>T	ENST00000377532.3	+	17	2447	c.2223C>T	c.(2221-2223)ggC>ggT	p.G741G	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.G733G			P56645	PER3_HUMAN	period circadian clock 3	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCGGCCGGCTGCAGGAAAG	0.557000													5	34					0	0	0.00116845	0	0
SH2D5	400745	broad.mit.edu	37	1	21050929	21050929	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:21050929G>A	ENST00000375031.1	-	5	962	c.338C>T	c.(337-339)tCc>tTc	p.S113F	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Missense_Mutation_p.S197F	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	113										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGCCGAAAGGAGACCAGGGC	0.662000													11	34					0	0	0.000673444	0	0
RNF183	138065	broad.mit.edu	37	9	116059999	116059999	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:116059999G>A	ENST00000478815.1	-	1	2046	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	RNF183_ENST00000416588.2_Missense_Mutation_p.R156C|RNF183_ENST00000297894.5_Missense_Mutation_p.R156C|RNF183_ENST00000441031.3_Missense_Mutation_p.R156C			Q96D59	RN183_HUMAN	ring finger protein 183	156						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						TGAGGGTTGCGGAAACACTCC	0.587000													8	62					0	0	0.000274275	0	0
CASR	846	broad.mit.edu	37	3	121981094	121981094	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:121981094C>T	ENST00000498619.1	+	4	1650	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	CASR_ENST00000296154.5_Silent_p.V404V|CASR_ENST00000490131.1_Silent_p.V404V	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	404					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCAGCAGTGTCGAGACCCCTT	0.483000													9	69					0	0	0.000442599	0	0
RTN1	6252	broad.mit.edu	37	14	60194250	60194250	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:60194250G>A	ENST00000267484.5	-	3	1487	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	384					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCTTGACCTCGGGCCTGTCGG	0.652000													4	13					0	0	0.000602214	0	0
KRT6C	286887	broad.mit.edu	37	12	52862870	52862870	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:52862870G>A	ENST00000252250.6	-	9	1718	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	557	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TCTTCCTGCTGGAGGAGGAGG	0.602000													11	66					0	0	0.00136819	0	0
ACSL1	2180	broad.mit.edu	37	4	185697691	185697691	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:185697691C>T	ENST00000515030.1	-	7	1028	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	ACSL1_ENST00000507295.1_Missense_Mutation_p.V201M|ACSL1_ENST00000504342.1_Missense_Mutation_p.V235M|ACSL1_ENST00000454703.2_Missense_Mutation_p.V64M|ACSL1_ENST00000504900.1_Missense_Mutation_p.V235M|ACSL1_ENST00000281455.2_Missense_Mutation_p.V235M|ACSL1_ENST00000437665.3_Missense_Mutation_p.V64M|ACSL1_ENST00000513317.1_Missense_Mutation_p.V235M			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	235					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCGTTCCACCAGTTCACTG	0.522000													14	100					0	0	0.000308642	0	0
CD48	962	broad.mit.edu	37	1	160648919	160648919	+	Silent	SNP	G	G	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:160648919G>T	ENST00000368046.3	-	4	742	c.655C>A	c.(655-657)Cgg>Agg	p.R219R	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	219					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCAAAGGACCGGGCTGAAAGA	0.468000													8	67					1.06961e-07	4.21674e-07	0.000157383	1	0
SRCAP	10847	broad.mit.edu	37	16	30724011	30724011	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:30724011C>T	ENST00000262518.4	+	14	2390	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P669S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P669S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	669	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TAACTGGGGTCCCCATTTAAT	0.458000													14	80					0	0	0.000422831	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698539	103698539	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:103698539C>T	ENST00000245312.3	-	6	1587	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	331					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GACTCTGGCTCCGTTCCATTT	0.373000													5	30					0	0	0.00116845	0	0
C19orf45	374877	broad.mit.edu	37	19	7573206	7573206	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:7573206C>T	ENST00000361664.2	+	9	1549	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	470										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACTGAAAAATCCTCAGGAGGG	0.607000													5	34					0	0	0.00116845	0	0
CEP120	153241	broad.mit.edu	37	5	122734918	122734918	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:122734918C>T	ENST00000306467.5	-	5	828	c.524G>A	c.(523-525)gGa>gAa	p.G175E	CEP120_ENST00000395431.2_Missense_Mutation_p.G175E|CEP120_ENST00000306481.6_Missense_Mutation_p.G149E|CEP120_ENST00000328236.5_Missense_Mutation_p.G175E			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	175						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGGTAGCCTCCCTCTTCATT	0.453000													9	65					0	0	0.000274275	0	0
FAM20C	56975	broad.mit.edu	37	7	195668	195668	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:195668C>T	ENST00000313766.5	+	2	951	c.720C>T	c.(718-720)tcC>tcT	p.S240S	FAM20C_ENST00000471328.1_3'UTR	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	240						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		AGCTGTACTCCAGACACAACC	0.612000													8	65					0	0	0.000157383	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19715909	19715909	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:19715909C>T	ENST00000284885.3	-	12	1375	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	448	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACTGTCTTCTCCATATTTTGG	0.308000													12	60					0	0	0.00136819	0	0
DRD5	1816	broad.mit.edu	37	4	9784938	9784938	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:9784938G>A	ENST00000304374.2	+	1	1681	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	429					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGACAACGACGAGGAGGAGGG	0.577000													6	60					0	0	0.00116845	0	0
SRRM2	23524	broad.mit.edu	37	16	2815608	2815608	+	Silent	SNP	A	A	C	rs142684862	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr16:2815608A>C	ENST00000301740.8	+	11	5628	c.5079A>C	c.(5077-5079)tcA>tcC	p.S1693S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1693	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCTCTCGATCATCTCCGGAGC	0.572000													7	28					0	0	0.00198382	0	0
WNT5B	81029	broad.mit.edu	37	12	1748967	1748967	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:1748967C>T	ENST00000397196.2	+	4	678	c.446C>T	c.(445-447)cCc>cTc	p.P149L	WNT5B_ENST00000310594.3_Missense_Mutation_p.P149L|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000537031.1_Missense_Mutation_p.P149L	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	149					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			ACGGCGCGGCCCAAGGACCTG	0.721000													8	40					0	0	0.000442599	0	0
UBE2C	11065	broad.mit.edu	37	20	44444545	44444545	+	Silent	SNP	C	C	T	rs61760191		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr20:44444545C>T	ENST00000405520.1	+	4	1194	c.357C>T	c.(355-357)aaC>aaT	p.N119N	UBE2C_ENST00000356455.4_Silent_p.N158N|UBE2C_ENST00000243893.6_3'UTR|UBE2C_ENST00000352551.5_Silent_p.N129N|UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000335046.3_Silent_p.N140N|UBE2C_ENST00000372568.4_Silent_p.N119N	NM_181802.1	NP_861518.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	158					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TCTGGAAAAACCCCACAGGTG	0.552000													7	134					0	0	0.000274275	0	0
RYR2	6262	broad.mit.edu	37	1	237780661	237780661	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:237780661G>A	ENST00000366574.2	+	38	6108	c.5791G>A	c.(5791-5793)Gat>Aat	p.D1931N	RYR2_ENST00000360064.6_Missense_Mutation_p.D1929N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1915N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1931	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTCAGATGATTTTGTGGC	0.468000													8	38					0	0	0.000157383	0	0
ASH1L	55870	broad.mit.edu	37	1	155324386	155324386	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:155324386C>T	ENST00000368346.3	-	16	7745	c.7106G>A	c.(7105-7107)cGa>cAa	p.R2369Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2364Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2369					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCCCAGTTTCGGACCAAGAA	0.368000													21	121					0	0	0.00152264	0	0
MAPT	4137	broad.mit.edu	37	17	44060828	44060828	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:44060828G>A	ENST00000344290.5	+	6	980	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.E220K|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E220K|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E220K	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	220					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GGAGGTGGATGAAGACCGCGA	0.677000													4	11					0	0	0.00024832	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994856	140994856	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrX:140994856G>A	ENST00000285879.4	+	4	1952	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	556							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGGGGGAGGACTCCCT	0.572000										HNSCC(15;0.026)			42	138					0	0	0.00195071	0	0
VWA3B	200403	broad.mit.edu	37	2	98846622	98846622	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:98846622T>G	ENST00000477737.1	+	16	2464	c.2260T>G	c.(2260-2262)Tgg>Ggg	p.W754G		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	754										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAGGGACCATGGGGCCTTTC	0.418000													9	63					0	0	0.000442599	0	0
NNMT	4837	broad.mit.edu	37	11	114182868	114182868	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:114182868C>T	ENST00000535401.1	+	5	728	c.464C>T	c.(463-465)cCc>cTc	p.P155L	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.P155L|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000545255.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	155					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GTCCCCTTACCCCCGGCTGAC	0.627000													15	82					0	0	0.000422831	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626250	140626250	+	Silent	SNP	T	T	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140626250T>C	ENST00000231173.3	+	1	1104	c.1104T>C	c.(1102-1104)ttT>ttC	p.F368F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		368	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCCCTGTTTAGGATTAGAG	0.408000													15	65					0	0	0.000308642	0	0
TRIML2	205860	broad.mit.edu	37	4	189012615	189012615	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:189012615G>A	ENST00000512729.1	-	7	1450	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	TRIML2_ENST00000326754.3_Missense_Mutation_p.S384F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	359	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GATACAGAGGGAAAACACAGG	0.473000													18	103					0	0	0.000566183	0	0
SEC24A	10802	broad.mit.edu	37	5	134059307	134059307	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:134059307C>T	ENST00000398844.2	+	22	3402	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1038					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAATAGCTTTCATCTCTTGGC	0.338000													16	97					0	0	0.00121646	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802118	34802118	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr18:34802118G>A	ENST00000591619.1	+	10	2436	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	KIAA1328_ENST00000280020.5_Silent_p.K554K|KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR			Q86T90	K1328_HUMAN	KIAA1328	554										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CAACCCGGAAGAAGATGGGGA	0.453000													4	18					0	0	0.00024832	0	0
UBE3B	89910	broad.mit.edu	37	12	109967761	109967761	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:109967761C>T	ENST00000342494.3	+	25	3289	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	UBE3B_ENST00000434735.2_Silent_p.A898A|UBE3B_ENST00000535089.1_5'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	898	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AAACAGCTGCCCTCATTAGCG	0.438000													12	78					0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9047175	9047175	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:9047175C>T	ENST00000397910.4	-	5	34659	c.34456G>A	c.(34456-34458)Gag>Aag	p.E11486K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11488	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTTGTCTCTGGTTCATAT	0.507000													12	95					0	0	0.00244969	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717007	13717007	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr12:13717007C>G	ENST00000279593.3	-	13	3374	c.3165G>C	c.(3163-3165)ttG>ttC	p.L1055F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1055					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)	CGGAGCGGATCAAGTCGTCGT	0.577000													6	43					0	0	0.000274275	0	0
LRTM1	57408	broad.mit.edu	37	3	54952855	54952855	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:54952855C>T	ENST00000273286.5	-	3	831	c.669G>A	c.(667-669)agG>agA	p.R223R	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Silent_p.R147R|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	223	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CATGAGGGATCCTAAGGAGGT	0.547000													9	20					0	0	0.000673444	0	0
SCN2A	6326	broad.mit.edu	37	2	166165685	166165685	+	Missense_Mutation	SNP	G	G	A	rs2228981		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:166165685G>A	ENST00000357398.3	+	6	906	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	SCN2A_ENST00000375437.2_Intron|SCN2A_ENST00000375427.2_Missense_Mutation_p.E206K|SCN2A_ENST00000283256.6_Intron			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	206					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTATGTAACAGAATTTGTAAA	0.338000													4	22					0	0	0.00116845	0	0
VTCN1	79679	broad.mit.edu	37	1	117690362	117690362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:117690362G>A	ENST00000369458.3	-	5	845	c.767C>T	c.(766-768)tCa>tTa	p.S256L	VTCN1_ENST00000539893.1_Missense_Mutation_p.S161L|VTCN1_ENST00000359008.4_Missense_Mutation_p.S259L|VTCN1_ENST00000328189.3_Missense_Mutation_p.S140L	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	256						integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGAAGCCTTTGAGTTTAGCAG	0.468000													13	61					0	0	0.000308642	0	0
GPR98	84059	broad.mit.edu	37	5	90059138	90059138	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:90059138C>T	ENST00000405460.2	+	59	12233	c.12137C>T	c.(12136-12138)tCc>tTc	p.S4046F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4046					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGATGAATCCCTTTCATCC	0.398000													5	15					0	0	0.00116845	0	0
TECPR1	25851	broad.mit.edu	37	7	97854178	97854178	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:97854178G>A	ENST00000447648.2	-	19	2924	c.2625C>T	c.(2623-2625)ttC>ttT	p.F875F	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.F877F			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	875						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAAATCCACGAACCAGTCGG	0.647000													3	3					0	0	6.4e-05	0	0
FGD5	152273	broad.mit.edu	37	3	14964556	14964556	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:14964556G>C	ENST00000285046.5	+	16	3921	c.3811G>C	c.(3811-3813)Gtg>Ctg	p.V1271L	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.V1030L	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1271					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGCAGATCGTGTGCCGGAA	0.607000													7	94					0	0	0.000157383	0	0
C1orf173	127254	broad.mit.edu	37	1	75038499	75038499	+	Silent	SNP	C	C	T	rs148451571		TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:75038499C>T	ENST00000326665.5	-	14	3113	c.2895G>A	c.(2893-2895)aaG>aaA	p.K965K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	965	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGTCCTCTCTCTTTGATGCTG	0.522000													16	90					0	0	0.000422831	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754685	93754685	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:93754685A>G	ENST00000315765.9	+	1	159	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	51	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TATTACTGGGAAAAGTTTCAC	0.448000													20	115					0	0	0.00229938	0	0
DLG5	9231	broad.mit.edu	37	10	79566601	79566601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:79566601G>A	ENST00000372391.2	-	26	4887	c.4882C>T	c.(4882-4884)Cag>Tag	p.Q1628*	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Nonsense_Mutation_p.Q1288*	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1628	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AACGTGCCCTGGGGTAAGGTG	0.572000													14	73					0	0	0.000308642	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794564	140794564	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140794564C>T	ENST00000398610.2	+	1	1822	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCTGGCTGTCCTACCG	0.711000													19	73					0	0	0.00152264	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664747	5664747	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:5664747C>T	ENST00000354852.5	+	14	2510	c.2337C>T	c.(2335-2337)tcC>tcT	p.S779S	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Silent_p.S425S|TRIM34_ENST00000429814.2_Silent_p.S425S|TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000514226.1_Silent_p.S425S	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		779						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TGACTCTCTCCATGGCTGTGC	0.458000													14	91					0	0	0.00244969	0	0
EQTN	54586	broad.mit.edu	37	9	27297013	27297013	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:27297013G>A	ENST00000380032.3	-	1	124	c.41C>T	c.(40-42)tCc>tTc	p.S14F	EQTN_ENST00000380031.1_Missense_Mutation_p.S14F|EQTN_ENST00000537675.1_Missense_Mutation_p.S14F	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		ACTTTTTAAGGAAAAAACTCC	0.323000													4	34					0	0	0.000602214	0	0
TACR3	6870	broad.mit.edu	37	4	104510988	104510988	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:104510988C>T	ENST00000304883.2	-	5	1389	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	417						integral to plasma membrane	tachykinin receptor activity	p.D417N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GTGTCTGCATCGTTGGGGTCA	0.527000													9	56					0	0	0.000978159	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378925	114378925	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:114378925C>T	ENST00000312719.5	-	5	1725	c.537G>A	c.(535-537)ttG>ttA	p.L179L	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L179L|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	179					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGACAATGATCAACAACTTGA	0.408000													13	188					0	0	0.00136819	0	0
OR1J4	26219	broad.mit.edu	37	9	125282200	125282200	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr9:125282200C>T	ENST00000340750.1	+	1	781	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ACTGTATTTTCTCCCCTCATC	0.473000													5	53					0	0	0.000602214	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685372	19685372	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr21:19685372C>T	ENST00000284885.3	-	18	2088	c.2055G>A	c.(2053-2055)acG>acA	p.T685T		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	685	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CATTGTTGTTCGTtgtgccat	0.443000													6	72					0	0	0.00198382	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626208	140626208	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140626208C>G	ENST00000231173.3	+	1	1062	c.1062C>G	c.(1060-1062)agC>agG	p.S354R		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		354	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTTACCAGCCCTATTCCCG	0.453000													20	80					0	0	0.000958276	0	0
FAM162B	221303	broad.mit.edu	37	6	117086375	117086375	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:117086375G>A	ENST00000368557.4	-	2	362	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	72						integral to membrane				large_intestine(2)|lung(4)	6						TTTTCTTGTCGAACTGCGAAG	0.617000													8	44					0	0	0.000442599	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668661	176668661	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:176668661G>A	ENST00000367662.3	+	8	4336	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1058					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTTCTCCGCGATCCCCCATT	0.552000													20	154					0	0	0.00188189	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590309	140590309	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:140590309G>A	ENST00000239450.2	+	1	2019	c.1830G>A	c.(1828-1830)acG>acA	p.T610T	PCDHB12_ENST00000541609.1_Silent_p.T273T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		610	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGGCCACGGAGCCCGGGC	0.711000													11	162					0	0	0.00136819	0	0
NPY4R	5540	broad.mit.edu	37	10	47087212	47087212	+	Silent	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr10:47087212C>T	ENST00000374312.1	+	3	848	c.429C>T	c.(427-429)atC>atT	p.I143I	NPY4R_ENST00000395716.1_Silent_p.I143I	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		ATCAGCTCATCATCAACCCAA	0.597000													18	205					0	0	0.00121646	0	0
GAD1	2571	broad.mit.edu	37	2	171709222	171709222	+	Splice_Site	SNP	A	A	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:171709222A>T	ENST00000358196.3	+	13	1734		c.e13-1			NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)						glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGCTTCTTTCAGGGCCAACTC	0.478000													8	43					0	0	0.000157383	0	0
FADS3	3995	broad.mit.edu	37	11	61646236	61646236	+	Silent	SNP	G	G	A	rs115282539	byFrequency	TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:61646236G>A	ENST00000540820.1	-	4	678	c.606C>T	c.(604-606)ttC>ttT	p.F202F	FADS3_ENST00000525588.1_Silent_p.F174F|FADS3_ENST00000527697.1_Silent_p.F78F|FADS3_ENST00000278829.2_Silent_p.F202F			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	202					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCCCATCACGAACTTCTGGG	0.642000													8	22					0	0	0.000442599	0	0
DNAH5	1767	broad.mit.edu	37	5	13850769	13850769	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr5:13850769G>A	ENST00000265104.4	-	31	5210	c.5106C>T	c.(5104-5106)tcC>tcT	p.S1702S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1702	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCCAGTAAGGGATTTCTGGC	0.463000									Kartagener syndrome				5	36					0	0	0.00116845	0	0
GRHL2	79977	broad.mit.edu	37	8	102570892	102570892	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr8:102570892G>A	ENST00000251808.3	+	4	868	c.530G>A	c.(529-531)gGa>gAa	p.G177E	GRHL2_ENST00000395927.1_Missense_Mutation_p.G161E	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	177						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TATCCCCGGGGAGATGGGGAA	0.572000													4	55					0	0	0.000602214	0	0
SLC33A1	9197	broad.mit.edu	37	3	155551305	155551305	+	Silent	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:155551305G>A	ENST00000392845.2	-	4	1598	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	SLC33A1_ENST00000359479.3_Silent_p.F406F	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	406					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATATATAGGGAATCCCCCTT	0.383000													18	71					0	0	0.000566183	0	0
DHX36	170506	broad.mit.edu	37	3	154032852	154032852	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr3:154032852G>A	ENST00000496811.1	-	3	666	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	DHX36_ENST00000308361.6_Missense_Mutation_p.R196W|DHX36_ENST00000329463.5_Missense_Mutation_p.R196W|DHX36_ENST00000544526.1_Missense_Mutation_p.R196W	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	196						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R196W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCAATATACCGAAGGTCATTT	0.299000													6	25					0	0	0.00116845	0	0
KCTD20	222658	broad.mit.edu	37	6	36454665	36454665	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr6:36454665C>T	ENST00000373731.2	+	8	1364	c.973C>T	c.(973-975)Cct>Tct	p.P325S	KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Missense_Mutation_p.P180S|KCTD20_ENST00000449081.2_Missense_Mutation_p.P159S|KCTD20_ENST00000544295.1_Missense_Mutation_p.P79S	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	325						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TGCAGGTTACCCTACCTGTAA	0.433000													8	140					0	0	0.000274275	0	0
HSPG2	3339	broad.mit.edu	37	1	22162078	22162078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr1:22162078C>T	ENST00000374695.3	-	76	10487	c.10408G>A	c.(10408-10410)Gga>Aga	p.G3470R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3470	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCCAAGGTCCATGGGCCTGG	0.502000													10	52					0	0	0.000978159	0	0
PTPRS	5802	broad.mit.edu	37	19	5239014	5239014	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr19:5239014C>T	ENST00000372412.4	-	13	2001	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	PTPRS_ENST00000588012.1_Missense_Mutation_p.E576K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E585K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E576K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E576K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.E589K|PTPRS_ENST00000587303.1_Missense_Mutation_p.E589K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E576K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	589	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AAGGCGTACTCCGTGTTGGGC	0.697000													19	87					0	0	0.00121646	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67560735	67560735	+	RNA	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:67560735G>A	ENST00000528089.1	-	0	1015																											TCATGACGAGGTTCCACTTCC	0.527000													21	93					0	0	0.00188189	0	0
MAP3K11	4296	broad.mit.edu	37	11	65373447	65373447	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:65373447G>A	ENST00000309100.3	-	7	2194	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	MAP3K11_ENST00000532507.1_5'UTR|MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000530153.1_Missense_Mutation_p.S313F	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	570					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						AGGCTTGGGGGAACTGGGACC	0.627000													4	26					0	0	0.00024832	0	0
SLFN11	91607	broad.mit.edu	37	17	33680911	33680911	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr17:33680911C>T	ENST00000394566.1	-	6	1638	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	SLFN11_ENST00000308377.4_Missense_Mutation_p.G456R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	456						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGATGACTCCTGGCTTCTCC	0.483000													10	30					0	0	0.000978159	0	0
AC027612.3	0	broad.mit.edu	37	2	91899626	91899627	+	RNA	DEL	AA	AA	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:91899626_91899627delAA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAAA	0.287													3	4	---	---	---	---					
GIGYF2	26058	broad.mit.edu	37	2	233697764	233697766	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr2:233697764_233697766delGCA	ENST00000373566.3	+	23	2990_2992	c.2793_2795delGCA	c.(2791-2796)ttg>tt	p.LQ931del	GIGYF2_ENST00000409547.1_In_Frame_Del_p.LQ909del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.LQ740del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.LQ930del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.LQ931del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.LQ903del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.LQ909del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	909	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCCGGAGGTTgcagcagcagcag	0.547													2	4	---	---	---	---					
TACC3	10460	broad.mit.edu	37	4	1742558	1742559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr4:1742558_1742559insT	ENST00000313288.4	+	13	2174_2175	c.2068_2069insT	c.(2068-2070)tcafs	p.S690fs		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	690						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCAAGAGGAAGTTCAGAAGCAG	0.470													9	83	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121653001	121653001	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr7:121653001delA	ENST00000393386.2	+	12	4312	c.3901delA	c.(3901-3903)acfs	p.N1301fs	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1301					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTGGAGATTAACCAGGCCCA	0.368													16	54	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133790896	133790904	+	In_Frame_Del	DEL	CAGGGCGGC	CAGGGCGGC	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr11:133790896_133790904delCAGGGCGGC	ENST00000321016.8	-	18	2946_2954	c.2716_2724delGCCGCCCTG	c.(2716-2724)del	p.AAL906del	IGSF9B_ENST00000533871.2_In_Frame_Del_p.AAL906del			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	906						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGGGACTTCAGGGCGGCCACAGATGTG	0.675													7	121	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													3	6	---	---	---	---					
TRAV35	28647	broad.mit.edu	37	14	22689939	22689939	+	RNA	DEL	A	A	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chr14:22689939delA	ENST00000390462.1	+	0	46																											TGAAAAGAGGAAAACAGAAGG	0.433													2	4	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-D3-A2JH-06A-11D-A196-08	TCGA-D3-A2JH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f6121c-a022-4679-b0e3-a2f193a76a4c	79818eca-bdbb-470b-b217-e6711127bbdb	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													3	5	---	---	---	---					
