Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PROKR2	128674	broad.mit.edu	37	20	5294996	5294996	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:5294996T>C	uc010zqw.2	-	0	28	c.20A>G	c.(19-21)aAc>aGc	p.N7S	PROKR2_uc010zqx.2_Missense_Mutation_p.N7S|PROKR2_uc010zqy.2_Missense_Mutation_p.N7S|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	7						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAAACTGGTGTTTCCATTCTG	0.512000										HNSCC(71;0.22)				92			9		0	0	0.000978159	0	0
PI4KA	5297	broad.mit.edu	37	22	21096604	21096604	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:21096604G>A	uc002zsz.4	-	31	3740	c.3479C>T	c.(3478-3480)cCc>cTc	p.P1160L		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1160					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.P1160P(1)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CATCCGGAGGGGACCCCAGCA	0.587000											OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		155			10		0	0	0.000978159	0	0
CTCFL	140690	broad.mit.edu	37	20	56093858	56093858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:56093858C>T	uc010giw.1	-	4	1126	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	CTCFL_uc010gix.1_Missense_Mutation_p.E339K|CTCFL_uc002xym.2_Missense_Mutation_p.E339K|CTCFL_uc010gjb.1_Missense_Mutation_p.E339K|CTCFL_uc010gja.1_Missense_Mutation_p.E339K|CTCFL_uc010gjc.1_Missense_Mutation_p.E339K|CTCFL_uc010gjd.1_Missense_Mutation_p.E339K|CTCFL_uc010gje.3_Missense_Mutation_p.E339K|CTCFL_uc010gjg.3_Missense_Mutation_p.E71K|CTCFL_uc010gjf.3_Missense_Mutation_p.E134K|CTCFL_uc010gjh.2_Missense_Mutation_p.E339K|CTCFL_uc010gji.2_Missense_Mutation_p.E134K|CTCFL_uc010gjj.2_Missense_Mutation_p.E339K|CTCFL_uc021wfe.1_Missense_Mutation_p.E339K|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.E71K|CTCFL_uc010gjk.1_Missense_Mutation_p.E339K|CTCFL_uc010gjl.1_Missense_Mutation_p.E339K	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	339					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAGGGTTTCTCATGAGTATGT	0.458000														131			16		0	0	0.000566183	0	0
OR2T2	401992	broad.mit.edu	37	1	248616729	248616729	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248616729C>T	uc001iek.1	+	0	631	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			GCTGCTTATCCCTCTATCTGT	0.532000														84			8		0	0	0.000442599	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64629877	64629877	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:64629877C>T	uc003jtp.3	-	7	1923	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	370	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ACCCAGTGTTCCACAGGGCTT	0.259000														20			7		0	0	0.00198382	0	0
NOD2	64127	broad.mit.edu	37	16	50733428	50733428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:50733428C>T	uc002egm.1	+	1	208	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	NOD2_uc010cbj.1_Nonsense_Mutation_p.Q8*|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Nonsense_Mutation_p.Q8*|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	35	CARD 1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAGGCTTTTCAGGCACAGAG	0.612000														228			19		0	0	0.00278032	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:19455440C>T	uc002dgc.4	+	3	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_uc010vaq.2_Missense_Mutation_p.R276C|TMC5_uc002dgb.4_Missense_Mutation_p.R276C|TMC5_uc010var.2_Missense_Mutation_p.R276C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000														80			7		0	0	0.00198382	0	0
HHLA2	11148	broad.mit.edu	37	3	108076794	108076794	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:108076794G>A	uc003dwz.3	+	5	1203	c.789G>A	c.(787-789)atG>atA	p.M263I	HHLA2_uc011bhl.2_Missense_Mutation_p.M199I|HHLA2_uc010hpu.3_Missense_Mutation_p.M263I|HHLA2_uc003dwy.4_Missense_Mutation_p.M263I	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	263	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGTCCAGAATGAAAAGTGGGA	0.383000														153			44		0	0	0.00321405	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002461	52002461	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:52002461C>T	uc002pwx.1	-	3	1154	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	SIGLEC12_uc002pww.1_Silent_p.Q248Q|SIGLEC12_uc010eoy.1_Silent_p.Q93Q	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	366	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGGTCAAGTTCTGAGGAGGAT	0.567000														71			5		0	0	0.000602214	0	0
OR51A7	119687	broad.mit.edu	37	11	4929511	4929511	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:4929511G>A	uc010qyq.2	+	0	912	c.912G>A	c.(910-912)ggG>ggA	p.G304G		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATCTTGGGGAAGTTGCTTA	0.393000														64			6		0	0	0.00307968	0	0
CASR	846	broad.mit.edu	37	3	121980881	121980881	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:121980881C>T	uc003eew.4	+	3	1437	c.999C>T	c.(997-999)ttC>ttT	p.F333F	CASR_uc003eev.4_Silent_p.F333F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	333					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)	TCCGGGAATTCCTGAAGAAGG	0.537000														57			5		0	0	0.000602214	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221661	67221661	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:67221661C>T	uc002erx.1	-	4	748	c.507G>A	c.(505-507)ctG>ctA	p.L169L	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Intron|EXOC3L1_uc010vje.1_Silent_p.L108L|EXOC3L1_uc002ery.1_Silent_p.L113L	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	169	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCAGCTGCTCCAGCTCCCGAA	0.597000														100			14		0	0	0.00244969	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685508	111685508	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:111685508G>A	uc010hqa.3	+	13	3537	c.3126G>A	c.(3124-3126)ttG>ttA	p.L1042L	PHLDB2_uc003dyc.3_Silent_p.L1026L|PHLDB2_uc003dyd.3_Silent_p.L999L|PHLDB2_uc003dyg.3_Silent_p.L1042L|PHLDB2_uc003dyh.3_Silent_p.L999L|PHLDB2_uc003dyi.3_Silent_p.L533L|PHLDB2_uc003dyj.3_Silent_p.L97L	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1042						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAGACTTTTGAAGCAGGCTC	0.463000														59			11		0	0	0.00136819	0	0
MYH8	4626	broad.mit.edu	37	17	10307677	10307677	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10307677C>T	uc002gmm.2	-	21	2753	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	886					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						GGTCATTTTTCTCTTTTAAGA	0.398000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					47			8		0	0	0.00307968	0	0
FLII	2314	broad.mit.edu	37	17	18155806	18155806	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:18155806G>A	uc002gsr.1	-	9	1129	c.1078C>T	c.(1078-1080)Cat>Tat	p.H360Y	FLII_uc002gsq.1_Missense_Mutation_p.H232Y|FLII_uc010vxn.1_Missense_Mutation_p.H329Y|FLII_uc010vxo.1_Missense_Mutation_p.H306Y|FLII_uc002gss.1_Missense_Mutation_p.H360Y	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	360	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GTCAGGAAATGGATGGCTTCT	0.597000														101			9		0	0	0.000442599	0	0
PREX2	80243	broad.mit.edu	37	8	68999972	68999972	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:68999972C>T	uc003xxv.1	+	18	2068	c.2041C>T	c.(2041-2043)Cca>Tca	p.P681S	PREX2_uc003xxu.1_Missense_Mutation_p.P681S|PREX2_uc011lez.1_Missense_Mutation_p.P616S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	681	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			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						AGTGAAAATTCCAGATTCAGC	0.428000														112			17		0	0	0.00121646	0	0
GALNT12	79695	broad.mit.edu	37	9	101597623	101597623	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:101597623G>A	uc004ayz.3	+	4	1010	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	337	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTTTGGGGAGGAGAAAACCTC	0.398000														123			13		0	0	0.00316338	0	0
TBX18	9096	broad.mit.edu	37	6	85466495	85466495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:85466495G>A	uc003pkl.1	-	3	692	c.692C>T	c.(691-693)tCg>tTg	p.S231L	TBX18_uc010kbq.2_Missense_Mutation_p.S73L	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	231					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGTCTCCCCCGAGGCAGGCGA	0.512000														60			7		0	0	0.00198382	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947792	57947792	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:57947792G>A	uc021qjm.1	+	0	876	c.876G>A	c.(874-876)agG>agA	p.R292R	OR9Q1_uc001nmj.3_Silent_p.R292R	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACAGCCTGAGGAACAAGGAAG	0.468000														53			8		0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9087495	9087495	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9087495C>T	uc002mkp.3	-	0	4524	c.4320G>A	c.(4318-4320)ggG>ggA	p.G1440G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1440	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						CCAGGGGTTCCCCTGGGACAT	0.522000														74			10		0	0	0.000442599	0	0
FGD2	221472	broad.mit.edu	37	6	36978769	36978769	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:36978769C>T	uc010jwp.1	+	2	492	c.321C>T	c.(319-321)gtC>gtT	p.V107V	FGD2_uc011dtu.1_Silent_p.V107V|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	107	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGATCGTCCAGGAGCTGC	0.612000														65			5		0	0	0.00116845	0	0
USP42	84132	broad.mit.edu	37	7	6196551	6196551	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:6196551T>C	uc011jwo.1	+	15	3931	c.3808T>C	c.(3808-3810)Ttc>Ctc	p.F1270L	USP42_uc011jwp.2_Missense_Mutation_p.F1270L|USP42_uc011jwq.2_Missense_Mutation_p.F1077L	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	1270					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGTCGCCCAGTTCCGGAGAGC	0.512000														29			6		0	0	0.00198382	0	0
NRG3	10718	broad.mit.edu	37	10	84718705	84718705	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:84718705G>A	uc021pvc.1	+	6	1185	c.1158_splice	c.e6-1	p.K386_splice	NRG3_uc010qlz.1_Splice_Site_p.K385_splice|NRG3_uc021pvb.1_Intron|NRG3_uc001kco.2_Splice_Site_p.K386_splice|NRG3_uc001kcp.2_Splice_Site_p.K165_splice|NRG3_uc001kcq.2_Splice_Site_p.K36_splice|NRG3_uc021pvd.1_Splice_Site_p.K165_splice|NRG3_uc021pve.1_Splice_Site_p.K190_splice|NRG3_uc021pvf.1_Splice_Site_p.K36_splice|NRG3_uc021pvg.1_Splice_Site_p.K190_splice|NRG3_uc021pvh.1_Splice_Site|NRG3_uc021pvi.1_Splice_Site_p.K216_splice|NRG3_uc021pvk.1_Splice_Site|NRG3_uc001kcr.2_Splice_Site_p.K36_splice|NRG3_uc021pvl.1_Splice_Site_p.K36_splice	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	386					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ATGCCTGCAGGAAACAAGCTA	0.388000														36			13		0	0	0.00185496	0	0
MYH4	4622	broad.mit.edu	37	17	10351220	10351220	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10351220T>A	uc002gmn.3	-	33	4991	c.4880A>T	c.(4879-4881)aAt>aTt	p.N1627I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1627					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCCATTTCATTAAGATCTCC	0.463000														155			19		0	0	0.00188189	0	0
TDRD1	56165	broad.mit.edu	37	10	115947891	115947891	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:115947891G>A	uc001lbg.1	+	1	454	c.301G>A	c.(301-303)Gga>Aga	p.G101R	TDRD1_uc001lbf.3_Missense_Mutation_p.G92R|TDRD1_uc001lbh.1_Missense_Mutation_p.G92R|TDRD1_uc001lbi.1_Missense_Mutation_p.G92R	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	101					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.G101R(2)|p.G101G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGCTCCAAAGGAGACAGGAA	0.413000														95			27		0	0	0.000878237	0	0
ZNF521	25925	broad.mit.edu	37	18	22804972	22804972	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:22804972G>A	uc002kvk.2	-	3	3157	c.2910C>T	c.(2908-2910)tcC>tcT	p.S970S	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.S970S|ZNF521_uc002kvl.2_Silent_p.S750S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	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									66			11		0	0	0.000673444	0	0
FAT3	120114	broad.mit.edu	37	11	92523277	92523277	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:92523277G>A	uc001pdj.4	+	6	4521	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1502	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGCAGCATCGACTCCATCAG	0.507000										TCGA Ovarian(4;0.039)				320			48		0	0	0.00361006	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:22382594G>A	uc001yuc.1	+	6	1103	c.122G>A	c.(121-123)gGa>gAa	p.G41E	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000														233			19		0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179454489	179454489	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179454489C>T	uc021vsy.1	-	252	54484	c.54259G>A	c.(54259-54261)Gaa>Aaa	p.E18087K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E11782K|TTN_uc021vta.1_Missense_Mutation_p.E11715K|TTN_uc021vtb.1_Missense_Mutation_p.E11590K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19014	Fibronectin type-III 31.						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)			GTTTTTGTTTCGATGGTTGGC	0.393000														127			13		0	0	0.00244969	0	0
NPR1	4881	broad.mit.edu	37	1	153657492	153657492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:153657492G>A	uc001fcs.4	+	7	1958	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	NPR1_uc010pdz.2_Missense_Mutation_p.E259K|NPR1_uc010pea.2_Missense_Mutation_p.E17K	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	513					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGTGCGCTGGGAGGACGTTGA	0.637000														80			15		0	0	0.00244969	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589737	64589737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:64589737C>T	uc003dmg.3	-	24	3640	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1175Q|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1032Q|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R114Q	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1203	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTATCTCATCCGGGTACCTTT	0.512000														396			29		0	0	0.00127121	0	0
OSBPL11	114885	broad.mit.edu	37	3	125279359	125279359	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:125279359G>A	uc003eic.3	-	7	1756	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	340					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TATTTCTTCAGGCTCCTTGAT	0.363000														142			8		0	0	0.000274275	0	0
LILRA1	11024	broad.mit.edu	37	19	55107271	55107271	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:55107271C>T	uc002qgh.1	+	5	1011	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F	LILRA1_uc010yfg.1_Missense_Mutation_p.L275F|LILRA1_uc010yfh.2_Missense_Mutation_p.L277F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	277	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCAGGCTGGGCTCTCCCAGGC	0.612000														56			9		0	0	0.000274275	0	0
CLCN3	1182	broad.mit.edu	37	4	170618716	170618716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:170618716C>T	uc003ish.3	+	8	1953	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	CLCN3_uc003isi.3_Missense_Mutation_p.P465L|CLCN3_uc011cka.2_Missense_Mutation_p.P438L|CLCN3_uc011cjz.2_Missense_Mutation_p.P448L|CLCN3_uc003isj.2_Missense_Mutation_p.P438L	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	465					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACTGTGGTCCCCTGGAATCC	0.423000														80			11		0	0	0.00136819	0	0
CDH9	1007	broad.mit.edu	37	5	26988489	26988489	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:26988489C>T	uc003jgs.1	-	2	121	c.-48_splice	c.e2-1		CDH9_uc010iug.3_Splice_Site	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTTGTTTTTCCTAAAGAGTA	0.313000														12			4		0	0	0.00024832	0	0
DNAH3	55567	broad.mit.edu	37	16	21136651	21136652	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:21136651_21136652CC>TT	uc010vbe.2	-	8	1248_1249	c.1248_1249GG>AA	c.(1246-1251)aaggag>aaAAag	p.E417K	DNAH3_uc002die.2_Missense_Mutation_p.E388K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	417	Stem (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)		ATCCAGTGCTCCTTCCGTGAGG	0.500000														91			7		0	0	6.4e-05	0	0
AGTR1	185	broad.mit.edu	37	3	148459402	148459402	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:148459402G>A	uc003ewg.3	+	3	1026	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	AGTR1_uc003ewh.3_Missense_Mutation_p.G194R|AGTR1_uc003ewi.3_Missense_Mutation_p.G194R|AGTR1_uc003ewj.3_Missense_Mutation_p.G194R|AGTR1_uc003ewk.3_Missense_Mutation_p.G194R|AGTR1_uc021xfj.1_Missense_Mutation_p.G194R	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	194					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCTCCCGATAGGGCTGGGCCT	0.383000														44			15		0	0	0.00400662	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401359	11401359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:11401359C>T	uc003gmq.3	-	1	594	c.271G>A	c.(271-273)Gac>Aac	p.D91N	HS3ST1_uc021xmg.1_Missense_Mutation_p.D91N	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	91						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TCCTCCCAGTCGAAGAAGTGG	0.642000														99			11		0	0	0.00136819	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2399192	2399192	+	Splice_Site	SNP	G	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:2399192G>C	uc010xgx.2	+	3	412	c.412_splice	c.e3+1	p.G138_splice	TMPRSS9_uc002lvv.1_Splice_Site_p.G172_splice	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	138					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GAGCTCACAGGTGAGTGGGCA	0.582000														37			3		0	0	6.4e-05	0	0
ACOT12	134526	broad.mit.edu	37	5	80631636	80631636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:80631636G>A	uc003khl.4	-	11	1268	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	405	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R405H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GACAAGAGACGATAAGCCAAA	0.348000														81			12		0	0	0.00316338	0	0
POTEF	728378	broad.mit.edu	37	2	130831874	130831874	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:130831874G>A	uc010fmh.2	-	16	3571	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	1057	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						CCTGCTTGCTGATCCACATCT	0.532000														94			11		0	0	0.00244969	0	0
SPACA3	124912	broad.mit.edu	37	17	31323938	31323938	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:31323938G>A	uc002hhs.1	+	2	496	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	141					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CACCAACAACGGGATCTTCCA	0.592000														86			6		0	0	0.00198382	0	0
CLK2	1196	broad.mit.edu	37	1	155234037	155234037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:155234037G>A	uc001fjy.3	-	10	1491	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Missense_Mutation_p.P400S|CLK2_uc001fjx.3_Missense_Mutation_p.P173S|CLK2_uc009wqm.3_Missense_Mutation_p.P401S	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	401	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCCGGGAAGGGATAGGACCC	0.458000								Other conserved DNA damage response genes						110			10		0	0	0.00185496	0	0
TLE4	7091	broad.mit.edu	37	9	82267551	82267551	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:82267551C>T	uc004ald.3	+	6	1262	c.413C>T	c.(412-414)cCc>cTc	p.P138L	TLE4_uc004alc.3_Missense_Mutation_p.P145L|TLE4_uc010mpr.3_Missense_Mutation_p.P24L|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.P113L|TLE4_uc010mps.3_Missense_Mutation_p.P138L|TLE4_uc004alf.3_Missense_Mutation_p.P84L	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATGGTCTCCCCGTACCTCTG	0.557000														184			23		0	0	0.00332997	0	0
ABCA3	21	broad.mit.edu	37	16	2373673	2373673	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:2373673C>A	uc002cpy.1	-	6	1176	c.464G>T	c.(463-465)cGg>cTg	p.R155L	ABCA3_uc010bsk.1_Missense_Mutation_p.R155L|ABCA3_uc010bsl.1_Missense_Mutation_p.R155L|ABCA3_uc002cpz.1_Missense_Mutation_p.R155L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	155					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R155L(2)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GTAACTGAACCGTAGGTGATA	0.498000														435			13		0.00316338	0.00918461	0.00316338	1	0
ANKRD22	118932	broad.mit.edu	37	10	90582746	90582746	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:90582746C>T	uc001kfj.4	-	5	896	c.528G>A	c.(526-528)cgG>cgA	p.R176R		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	176										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ATTTTAATCTCCGTGCAATAT	0.403000														115			25		0	0	0.000720815	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835042	61835042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:61835042G>A	uc002yeh.3	-	3	544	c.250C>T	c.(250-252)Cca>Tca	p.P84S	YTHDF1_uc011aaq.2_Missense_Mutation_p.P34S	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	84										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GTGAGGTATGGAATCGGAGGG	0.542000														80			9		0	0	0.000673444	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482012	123482012	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:123482012G>A	uc001uej.1	-	9	1531	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	PITPNM2_uc001uek.1_Silent_p.S444S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	444					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)		CGCCCTTCTTGGAGCTGGGGT	0.667000														113			13		0	0	0.00185496	0	0
MORC1	27136	broad.mit.edu	37	3	108778661	108778661	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:108778661C>T	uc003dxl.3	-	11	1110	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	MORC1_uc011bhn.2_Silent_p.E341E	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	341					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACCTTTGTTTCTCTTTAAGAT	0.373000														36			9		0	0	0.000673444	0	0
ITK	3702	broad.mit.edu	37	5	156679629	156679629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:156679629C>T	uc003lwo.1	+	16	1886	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	602	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCAGAAGATCGGCCAGCCTT	0.463000			T	SYK	peripheral T-cell lymphoma									353			35		0	0	0.00111076	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935354	151935354	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:151935354G>A	uc022chl.1	-	0	813	c.813C>T	c.(811-813)ttC>ttT	p.F271F	MAGEA3_uc004fgp.3_Silent_p.F271F	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	271	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCCACAGGAATTCATAAC	0.537000														72			28		0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179596517	179596517	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179596517C>T	uc021vsy.1	-	54	13578	c.13353G>A	c.(13351-13353)caG>caA	p.Q4451Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.Q1112Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5378	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTGAGGATCTGCAGGCTAA	0.483000														101			7		0	0	0.00198382	0	0
OR2S2	56656	broad.mit.edu	37	9	35957487	35957487	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:35957487C>T	uc011lpi.2	-	0	665	c.609G>A	c.(607-609)acG>acA	p.T203T		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T193T(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AGATCACATTCGTCACCTCCA	0.483000														99			15		0	0	0.00400662	0	0
SELENBP1	8991	broad.mit.edu	37	1	151340775	151340775	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:151340775G>A	uc010pcy.2	-	4	637	c.507C>T	c.(505-507)atC>atT	p.I169I	SELENBP1_uc001exx.3_Silent_p.I127I|SELENBP1_uc010pcz.2_Silent_p.I65I|SELENBP1_uc001eya.3_Silent_p.I63I	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	127					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTTGGCATGGATGTCCTTGG	0.562000														89			10		0	0	0.000442599	0	0
BMPER	168667	broad.mit.edu	37	7	34091556	34091556	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:34091556G>A	uc011kap.2	+	8	1134	c.760G>A	c.(760-762)Gat>Aat	p.D254N		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	254	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTTCTGTACGATAACTGCAC	0.473000														101			11		0	0	0.00136819	0	0
FREM1	158326	broad.mit.edu	37	9	14824883	14824883	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:14824883C>T	uc003zlm.3	-	11	2805	c.1989G>A	c.(1987-1989)aaG>aaA	p.K663K	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	663					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTAGCTGTTTCTTAGTTATAT	0.418000														37			10		0	0	0.000442599	0	0
CLCN1	1180	broad.mit.edu	37	7	143048844	143048844	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:143048844G>A	uc003wcr.1	+	22	2840	c.2753G>A	c.(2752-2754)gGa>gAa	p.G918E	CLCN1_uc011ktc.1_Missense_Mutation_p.G530E	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	918					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGGGCCACTGGAACAGGGGAT	0.622000														50			8		0	0	0.00307968	0	0
MYH13	8735	broad.mit.edu	37	17	10209805	10209806	+	Nonsense_Mutation	DNP	TC	AT	AT			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10209805_10209806TC>AT	uc002gmk.1	-	36	5526_5527	c.5436_5437GA>AT	c.(5434-5439)gggaag>ggATag	p.K1813*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1813					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCTGCTTCTTCCCGCCCTTCA	0.550000														231			16		0	0	6.4e-05	0	0
TP53BP1	7158	broad.mit.edu	37	15	43714221	43714221	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:43714221G>A	uc001zrs.3	-	18	4065	c.3917C>T	c.(3916-3918)tCc>tTc	p.S1306F	TP53BP1_uc010udp.2_Missense_Mutation_p.S1306F|TP53BP1_uc001zrq.4_Missense_Mutation_p.S1311F|TP53BP1_uc001zrr.4_Missense_Mutation_p.S1311F|TP53BP1_uc010udq.1_Missense_Mutation_p.S1311F	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1306					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCCTTGGAGGAGAAGGAGCT	0.547000								Other conserved DNA damage response genes						92			9		0	0	0.000442599	0	0
SVEP1	79987	broad.mit.edu	37	9	113170069	113170069	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:113170069G>A	uc010mtz.3	-	37	8148	c.7811C>T	c.(7810-7812)tCc>tTc	p.S2604F	SVEP1_uc010mty.3_Missense_Mutation_p.S530F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2604	Sushi 20.				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						TGTTGGGATGGAACTTGACCA	0.458000														164			26		0	0	0.000720815	0	0
ULK1	8408	broad.mit.edu	37	12	132399957	132399958	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:132399957_132399958CC>TT	uc001uje.3	+	17	1868_1869	c.1600_1601CC>TT	c.(1600-1602)cct>TTt	p.P534F		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	534					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGGCAGGTCCCCTCGTCCAGGT	0.639000														43			8		0	0	6.4e-05	0	0
MMP3	4314	broad.mit.edu	37	11	102710968	102710968	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:102710968G>A	uc001phj.1	-	5	871	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	269					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S269F(2)		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)	GGTCTCAGGGGAGTCAGGGGG	0.517000														51			7		0	0	0.00307968	0	0
CIDEA	1149	broad.mit.edu	37	18	12264320	12264320	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:12264320C>T	uc002kqt.4	+	2	263	c.198C>T	c.(196-198)ctC>ctT	p.L66L	CIDEA_uc002kqu.4_Silent_p.L100L|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	66	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						TGGATGCCCTCGTCATCGCTA	0.488000														51			12		0	0	0.00244969	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806809	15806809	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:15806809C>T	uc002nbl.3	+	9	1298	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGTTACATCCCCCAGCTCCCT	0.602000														68			18		0	0	0.00074312	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187363	140187363	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140187363G>A	uc003lhi.2	+	0	692	c.591G>A	c.(589-591)cgG>cgA	p.R197R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.R197R|PCDHAC2_uc011daa.2_Silent_p.R197R	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	212	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATATTACGGAAATCTTTAG	0.458000														90			9		0	0	0.000442599	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425677	74425677	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:74425677C>T	uc010vmt.1	+	5	849	c.848C>T	c.(847-849)cCc>cTc	p.P283L				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	344										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						AAGACTCCTCCcttagctact	0.547000														80			9		0	0	0.000673444	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762043	23762043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:23762043C>T	uc003zpu.3	-	1	465	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ELAVL2_uc003zps.3_Missense_Mutation_p.E64K|ELAVL2_uc003zpt.3_Missense_Mutation_p.E64K|ELAVL2_uc003zpv.3_Missense_Mutation_p.E64K|ELAVL2_uc003zpw.3_Missense_Mutation_p.E64K	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	64	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GACTCTATTTCACCAATGCTC	0.388000														32			7		0	0	0.000274275	0	0
CACNA1E	777	broad.mit.edu	37	1	181727953	181727953	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:181727953C>T	uc009wxt.3	+	31	4749	c.4554C>T	c.(4552-4554)acC>acT	p.T1518T	CACNA1E_uc001gow.3_Silent_p.T1518T|CACNA1E_uc009wxs.3_Silent_p.T1499T|CACNA1E_uc001gox.1_Silent_p.T744T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1518					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						TCGCCTTCACCATGGTGTTTT	0.468000														134			14		0	0	0.00074312	0	0
C11orf63	79864	broad.mit.edu	37	11	122774767	122774767	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:122774767T>C	uc001pym.3	+	2	776	c.479T>C	c.(478-480)tTg>tCg	p.L160S	C11orf63_uc001pyl.1_Missense_Mutation_p.L160S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	160										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AATCTGCCTTTGGCTCCCCTC	0.542000														93			13		0	0	0.00185496	0	0
FPR2	2358	broad.mit.edu	37	19	52272426	52272426	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:52272426G>A	uc002pxr.3	+	1	560	c.515G>A	c.(514-516)gGg>gAg	p.G172E	FPR2_uc002pxs.4_Missense_Mutation_p.G172E|FPR2_uc010epf.3_Missense_Mutation_p.G172E|FPR2_uc021uyp.1_Missense_Mutation_p.G172E	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	172					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.G172W(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATTCCAAATGGGGACACATAC	0.502000														95			10		0	0	0.000673444	0	0
GUCA2A	2980	broad.mit.edu	37	1	42628607	42628607	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:42628607G>A	uc001chd.1	-	2	330	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_033553	NP_291031	Q02747	GUC2A_HUMAN	Homo sapiens guanylate cyclase activator 2A (guanylin) (GUCA2A), mRNA.	106					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTAGGCACAGATTTCACATG	0.627000														49			13		0	0	0.00316338	0	0
AGTR2	186	broad.mit.edu	37	X	115304508	115304508	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:115304508C>T	uc022cdd.1	+	0	975	c.975C>T	c.(973-975)ttC>ttT	p.F325F	AGTR2_uc004eqh.4_Silent_p.F325F	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	325					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|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						GAAACCGGTTCCAACAGAAGC	0.453000														34			13		0	0	0.00136819	0	0
SCN11A	11280	broad.mit.edu	37	3	38950508	38950508	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38950508G>A	uc021wvy.1	-	8	1478	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	427					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCTTTAACAGCTGCTGGGCT	0.522000														118			9		0	0	0.000978159	0	0
SCN11A	11280	broad.mit.edu	37	3	38945362	38945362	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38945362C>T	uc021wvy.1	-	11	2035	c.1836G>A	c.(1834-1836)ggG>ggA	p.G612G		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	612					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTACCAAATTCCCTATATTCA	0.343000														41			8		0	0	0.000274275	0	0
XPO5	57510	broad.mit.edu	37	6	43523660	43523660	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:43523660G>A	uc003ovp.3	-	12	1565	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	452					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGATCCAAACGACATGCCAAC	0.433000														103			14		0	0	0.00316338	0	0
APBB1IP	54518	broad.mit.edu	37	10	26792132	26792132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:26792132G>A	uc001iss.3	+	5	781	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	APBB1IP_uc009xks.1_Missense_Mutation_p.E154K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	154	Poly-Glu.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCAGGAAGAGGAAGAAGCCCA	0.433000														112			10		0	0	0.000442599	0	0
MYO5A	4644	broad.mit.edu	37	15	52605957	52605957	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:52605957G>A	uc002aby.2	-	40	5748	c.5504C>T	c.(5503-5505)tCc>tTc	p.S1835F	MYO5A_uc002abx.3_Missense_Mutation_p.S1808F|MYO5A_uc010ugd.1_Missense_Mutation_p.S557F	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1835					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TAGTGCGAGGGAAGATGGGTT	0.473000														97			6		0	0	0.00198382	0	0
C20orf152	140894	broad.mit.edu	37	20	34583006	34583006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:34583006C>T	uc002xer.1	+	7	1058	c.902C>T	c.(901-903)tCc>tTc	p.S301F	C20orf152_uc002xes.1_Missense_Mutation_p.S301F|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	301										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GCCTCCCCTTCCTACCGTAGA	0.582000											OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			8		0	0	0.000274275	0	0
PSG4	5672	broad.mit.edu	37	19	43699294	43699294	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43699294G>A	uc002ovy.3	-	3	943	c.841C>T	c.(841-843)Cct>Tct	p.P281S	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P188S	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	281	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGACTGACAGGGAGGCTCTGA	0.443000														310			42		0	0	0.00361006	0	0
ANO3	63982	broad.mit.edu	37	11	26569046	26569046	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:26569046G>A	uc001mqt.4	+	11	1383	c.1238G>A	c.(1237-1239)gGt>gAt	p.G413D	ANO3_uc010rdr.2_Missense_Mutation_p.G397D|ANO3_uc010rds.2_Missense_Mutation_p.G252D|ANO3_uc010rdt.2_Missense_Mutation_p.G267D	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	413						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCAATTGTTGGTTTGTGCGTT	0.363000														65			8		0	0	0.00307968	0	0
ODZ3	55714	broad.mit.edu	37	4	183603033	183603033	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:183603033C>T	uc003ivd.1	+	9	1976	c.1901C>T	c.(1900-1902)cCa>cTa	p.P634L	ODZ3_uc003ive.1_Missense_Mutation_p.P40L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	634	EGF-like 4.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CACTGCAGTCCAGGATGGGGA	0.473000														31			4		0	0	0.00024832	0	0
ATP11A	23250	broad.mit.edu	37	13	113513726	113513726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:113513726C>T	uc001vsj.4	+	22	2775	c.2687C>T	c.(2686-2688)cCt>cTt	p.P896L	ATP11A_uc001vsi.4_Missense_Mutation_p.P896L|ATP11A_uc001vsm.1_Missense_Mutation_p.P772L|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	896					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTCATCTTCCCTCAGTTTTTA	0.547000														98			13		0	0	0.00316338	0	0
MAP9	79884	broad.mit.edu	37	4	156294382	156294382	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:156294382G>A	uc003ios.3	-	3	651	c.387C>T	c.(385-387)ttC>ttT	p.F129F	MAP9_uc011cin.2_Silent_p.F129F|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Silent_p.F129F|MAP9_uc010iqb.2_Silent_p.F57F	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	129					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GAGATTCAGAGAAAGATTTTA	0.338000														89			8		0	0	0.00307968	0	0
ENTPD3	956	broad.mit.edu	37	3	40456291	40456291	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:40456291G>A	uc003ckd.4	+	5	649	c.557G>A	c.(556-558)gGa>gAa	p.G186E	ENTPD3_uc010hhy.3_Missense_Mutation_p.G186E|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	186						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GGGGTATATGGATGGATTACA	0.418000														186			18		0	0	0.00152264	0	0
PCSK5	5125	broad.mit.edu	37	9	78784740	78784740	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:78784740G>A	uc004akc.2	+	12	2278	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	PCSK5_uc004ajy.2_Silent_p.R580R|PCSK5_uc004ajz.3_Silent_p.R580R|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	580	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCAGCTAAGGAACTTTAAGA	0.423000														90			6		0	0	0.00198382	0	0
OR2G2	81470	broad.mit.edu	37	1	247751905	247751905	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:247751905C>T	uc010pyy.2	+	0	244	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAGTGTTATTCCCCAGCTCCT	0.498000														96			46		0	0	0.00321405	0	0
ELMOD2	255520	broad.mit.edu	37	4	141456968	141456968	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:141456968C>T	uc003iik.3	+	3	385	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA.	85					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GAATATTAACCCTGAGAAGGA	0.333000														35			4		0	0	0.00024832	0	0
SRRM2	23524	broad.mit.edu	37	16	2816169	2816169	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:2816169C>T	uc002crk.3	+	10	6189	c.5640C>T	c.(5638-5640)acC>acT	p.T1880T	SRRM2_uc002crj.1_Silent_p.T1784T|SRRM2_uc002crl.1_Silent_p.T1880T|SRRM2_uc010bsu.1_Silent_p.T1784T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1880	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus 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						GGTCCAGAACCCCCCTGATAA	0.597000														74			6		0	0	0.00116845	0	0
A2M	2	broad.mit.edu	37	12	9254095	9254095	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:9254095A>T	uc001qvk.1	-	11	1555	c.1442T>A	c.(1441-1443)aTt>aAt	p.I481N	A2M_uc009zgk.1_Missense_Mutation_p.I331N	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	481					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCCATTCAGAATATAATGTGC	0.493000														33			4		0	0	0.000602214	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:19748188G>A	uc009zzj.3	-	4	1273	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	390					'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)		TGGTCCAGGCGAGCCCAGGCC	0.647000														83			14		0	0	0.00316338	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280695	105280695	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:105280695G>A	uc010npd.3	-	0	590	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	SERPINA7_uc004eme.2_Silent_p.L119L|SERPINA7_uc010npe.2_Silent_p.L119L	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	119					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGAAAATTCAGTGAACAGATC	0.463000														33			12		0	0	0.000978159	0	0
PRR14L	253143	broad.mit.edu	37	22	32072956	32072956	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:32072956G>A	uc003alo.2	-	5	5681	c.5625C>T	c.(5623-5625)ttC>ttT	p.F1875F		NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	2076										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CGAATACCAGGAAGTGCCCGG	0.592000														38			5		0	0	0.00116845	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167832	130167832	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:130167832C>T	uc004bqu.3	+	8	1329	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	SLC2A8_uc010mxj.3_Intron	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	428						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CCAAGGAGTTCAGCAGCCTCA	0.567000														48			6		0	0	0.00307968	0	0
CACNA1F	778	broad.mit.edu	37	X	49062997	49062997	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:49062997C>T	uc004dnb.3	-	45	5542	c.5480G>A	c.(5479-5481)cGa>cAa	p.R1827Q	CACNA1F_uc010nip.3_Missense_Mutation_p.R1816Q	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1827					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCCTGAATTTCGCCCACGATG	0.602000														30			18		0	0	0.00152264	0	0
STAB1	23166	broad.mit.edu	37	3	52545756	52545756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:52545756G>A	uc003dej.3	+	25	2952	c.2878G>A	c.(2878-2880)Ggc>Agc	p.G960S		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	960	EGF-like 9.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGCTGCCACGGCCTGGTAAG	0.662000														18			4		0	0	0.00024832	0	0
MECOM	2122	broad.mit.edu	37	3	168810803	168810803	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:168810803C>T	uc011bpj.1	-	13	3510	c.3107G>A	c.(3106-3108)cGa>cAa	p.R1036Q	MECOM_uc010hwk.1_Missense_Mutation_p.R862Q|MECOM_uc003ffj.3_Missense_Mutation_p.R913Q|MECOM_uc003ffi.3_Missense_Mutation_p.R848Q|MECOM_uc011bpi.1_Missense_Mutation_p.R840Q|MECOM_uc003ffn.3_Missense_Mutation_p.R848Q|MECOM_uc003ffk.2_Missense_Mutation_p.R839Q|MECOM_uc003ffl.2_Missense_Mutation_p.R999Q|MECOM_uc011bpk.1_Missense_Mutation_p.R848Q	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.R848L(1)		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						AATGAAATTTCGAATTTCTGT	0.443000														56			13		0	0	0.00136819	0	0
DNAH9	1770	broad.mit.edu	37	17	11666863	11666863	+	Missense_Mutation	SNP	G	A	A	rs140313224		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:11666863G>A	uc002gne.3	+	35	7170	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	DNAH9_uc010coo.3_Missense_Mutation_p.E1662K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2368					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2368K(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCCTAAGGAAATTTATGA	0.493000														80			11		0	0	0.000978159	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:31317540C>T	uc003jhe.2	+	9	1931	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_uc003jhd.2_Missense_Mutation_p.S524L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403000														105			12		0	0	0.000978159	0	0
TSHR	7253	broad.mit.edu	37	14	81554364	81554364	+	Silent	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:81554364A>G	uc001xvd.1	+	3	540	c.384A>G	c.(382-384)ctA>ctG	p.L128L	TSHR_uc001xvb.1_Silent_p.L128L|TSHR_uc001xvc.3_Silent_p.L128L|TSHR_uc010tvs.2_Silent_p.L128L	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	128					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCCCCCTCCTAAAGTTCCTGT	0.438000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							35			10		0	0	0.000442599	0	0
KCND2	3751	broad.mit.edu	37	7	120385937	120385937	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:120385937G>A	uc003vjj.1	+	4	2536	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	524					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.Q523L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCACAACAAGGAGTCACCAGC	0.448000														54			7		0	0	0.000274275	0	0
KCND2	3751	broad.mit.edu	37	7	119915622	119915622	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:119915622C>T	uc003vjj.1	+	0	1901	c.936C>T	c.(934-936)atC>atT	p.I312I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	312					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)					GCCTGCGCATCCTGGGGTACA	0.512000														51			9		0	0	0.000274275	0	0
C4orf17	84103	broad.mit.edu	37	4	100460493	100460493	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:100460493C>T	uc003huw.3	+	6	1164	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	268										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ATCAAAAGTGCTGACCAGAGA	0.463000														35			9		0	0	0.000673444	0	0
DEFB116	245930	broad.mit.edu	37	20	29896384	29896384	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:29896384G>A	uc010ztm.2	-	0	5	c.5C>T	c.(4-6)tCa>tTa	p.S2L		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Homo sapiens defensin, beta 116 (DEFB116), mRNA.	2					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTTCATGACTGACATGTTCCA	0.483000														71			7		0	0	0.00307968	0	0
KCNH6	81033	broad.mit.edu	37	17	61619792	61619792	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:61619792G>A	uc002jay.3	+	8	2225	c.2145G>A	c.(2143-2145)cgG>cgA	p.R715R	KCNH6_uc010wpl.2_Silent_p.R592R|KCNH6_uc010wpm.2_Silent_p.R715R|KCNH6_uc002jaz.1_Silent_p.R662R	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	715					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCAACCTGCGGGACGTGAGTC	0.622000														44			14		0	0	0.00244969	0	0
PKP2	5318	broad.mit.edu	37	12	33031889	33031890	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:33031889_33031890GG>AA	uc001rlj.4	-	1	415_416	c.300_301CC>TT	c.(298-303)ggccgt>ggTTgt	p.R101C	PKP2_uc001rlk.4_Missense_Mutation_p.R101C|PKP2_uc010skj.2_Missense_Mutation_p.R101C	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGGGGAACGGCCTCCAACAA	0.376000														71			8		0	0	6.4e-05	0	0
SNTG1	54212	broad.mit.edu	37	8	51705281	51705281	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:51705281C>T	uc010lxy.1	+	19	1817	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	SNTG1_uc003xqs.1_Silent_p.F482F|SNTG1_uc010lxz.1_Silent_p.F445F|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	482					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCATTCCTTCTTTGCTGCCA	0.388000														50			6		0	0	0.00198382	0	0
GPR50	9248	broad.mit.edu	37	X	150349133	150349133	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:150349133G>A	uc010ntg.2	+	1	1216	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	360	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTGGAGGAAACCCCGAT	0.632000														57			25		0	0	0.000878237	0	0
ZNF142	7701	broad.mit.edu	37	2	219510929	219510929	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:219510929G>A	uc002vin.3	-	6	1852	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	ZNF142_uc002vil.3_Silent_p.L433L|ZNF142_uc010fvt.3_Silent_p.L309L|ZNF142_uc002vim.3_Silent_p.L309L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTGCACACGGAGGTAGTGCT	0.522000														112			12		0	0	0.000978159	0	0
CFB	629	broad.mit.edu	37	6	31905185	31905185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:31905185G>A	uc011dor.2	+	4	883	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	CFB_uc003nyc.2_Missense_Mutation_p.E147K|CFB_uc011doo.2_Missense_Mutation_p.E114K|CFB_uc011dop.2_Missense_Mutation_p.E146K|CFB_uc003nyf.3_Missense_Mutation_p.E360K|CFB_uc010jtk.3_Missense_Mutation_p.E228K|CFB_uc011doq.2_Missense_Mutation_p.E331K|CFB_uc003nyh.2_Missense_Mutation_p.E11K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	373	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTCGGCATGGAAACGATGGC	0.488000														604			70		0	0	0.00361006	0	0
BTBD7	55727	broad.mit.edu	37	14	93728006	93728006	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:93728006G>A	uc001ybo.3	-	4	1715	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Silent_p.I112I|BTBD7_uc001ybq.4_Silent_p.I378I	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	463										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GATATTTAAGGATATCTTGTT	0.313000														118			19		0	0	0.000958276	0	0
LRP11	84918	broad.mit.edu	37	6	150164123	150164123	+	Silent	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:150164123T>C	uc003qng.2	-	2	1233	c.909A>G	c.(907-909)acA>acG	p.T303T	LRP11_uc003qnh.1_Silent_p.T303T	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA.	303	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TCTCACCTCCTGTGGAGTAGG	0.592000														58			11		0	0	0.00185496	0	0
STAB1	23166	broad.mit.edu	37	3	52554133	52554133	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:52554133C>T	uc003dej.3	+	50	5483	c.5409C>T	c.(5407-5409)gtC>gtT	p.V1803V	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1803	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTCGCAATGTCGAGGTGGGTG	0.602000														55			7		0	0	0.00198382	0	0
VPS13B	157680	broad.mit.edu	37	8	100883688	100883688	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:100883688G>C	uc003yiv.3	+	60	11694	c.11583G>C	c.(11581-11583)caG>caC	p.Q3861H	VPS13B_uc003yiw.3_Missense_Mutation_p.Q3836H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3861					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)			AAATGCTTCAGTCTCTGGGCA	0.522000														136			20		0	0	0.00229938	0	0
SORL1	6653	broad.mit.edu	37	11	121448073	121448073	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:121448073G>A	uc001pxx.3	+	24	3673	c.3544G>A	c.(3544-3546)Gac>Aac	p.D1182N	SORL1_uc010rzp.1_Missense_Mutation_p.D28N	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1182	LDL-receptor class A 3.				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)		CGGGGACAACGACTGCAGGGA	0.532000														121			10		0	0	0.000442599	0	0
CCT5	22948	broad.mit.edu	37	5	10263303	10263303	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:10263303C>T	uc003jeq.3	+	9	1546	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S	CCT5_uc011cmr.2_Missense_Mutation_p.P404S|CCT5_uc011cms.2_Missense_Mutation_p.P421S|CCT5_uc011cmt.2_Missense_Mutation_p.P366S	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	459					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GGAGGTCATCCCCATGGCCCT	0.532000														63			12		0	0	0.00136819	0	0
FBXW4	6468	broad.mit.edu	37	10	103433373	103433373	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:103433373G>A	uc001kto.3	-	2	760	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_022039	NP_071322	P57775	FBXW4_HUMAN	Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA.	138					Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGGCCAGGATGAAATTAGCCT	0.478000														51			9		0	0	0.000442599	0	0
TG	7038	broad.mit.edu	37	8	134031930	134031930	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:134031930C>T	uc003ytw.3	+	38	6907	c.6866C>T	c.(6865-6867)cCt>cTt	p.P2289L	TG_uc010mdw.3_Missense_Mutation_p.P1048L|TG_uc011ljb.2_Missense_Mutation_p.P658L|TG_uc011ljc.2_Missense_Mutation_p.P422L	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2289					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGTTCATCCCTCAGAATGTG	0.517000														87			8		0	0	0.000274275	0	0
MYH4	4622	broad.mit.edu	37	17	10362664	10362664	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10362664G>A	uc002gmn.3	-	14	1602	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	497	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCCAGCACGAACATGTGGT	0.483000														124			12		0	0	0.00185496	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366608	7366608	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:7366608C>T	uc002ghc.4	-	3	1943	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R	ZBTB4_uc002ghd.4_Missense_Mutation_p.G565R	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGAGTCCTTCCAGCCCGTGGA	0.701000														26			6		0	0	0.00116845	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:86808051G>A	uc002blz.1	+	9	1591	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_uc002bma.1_Missense_Mutation_p.R235Q|AGBL1_uc002bmb.1_Missense_Mutation_p.R198Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000														48			11		0	0	0.00136819	0	0
CRX	1406	broad.mit.edu	37	19	48342936	48342936	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:48342936C>T	uc002phq.4	+	3	816	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	204					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCTGCTCTTCCCCCTCCGCCT	0.677000														72			10		0	0	0.000442599	0	0
OR2M4	26245	broad.mit.edu	37	1	248402452	248402452	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248402452C>T	uc010pzh.2	+	0	222	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I74F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			TCATGCTCATCTGCACCACTC	0.458000														93			8		0	0	0.000274275	0	0
MYO5B	4645	broad.mit.edu	37	18	47431107	47431107	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:47431107G>A	uc002leb.2	-	19	2794	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	MYO5B_uc002lea.2_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	836	Arg-rich.|IQ 3.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAGCTCTGCGGACCCTCTGG	0.642000														83			11		0	0	0.000673444	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093613	43093613	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43093613G>A	uc002oud.2	-	2	801	c.699C>T	c.(697-699)gtC>gtT	p.V233V	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	233					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				ACTCACAGAGGACATTCAGGG	0.527000														111			12		0	0	0.00244969	0	0
RP1	6101	broad.mit.edu	37	8	55539962	55539962	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55539962G>A	uc003xsd.1	+	3	3668	c.3520G>A	c.(3520-3522)Gag>Aag	p.E1174K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1174					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCTATCACAGAGGAAGCTGA	0.408000														57			6		0	0	0.00116845	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260800	1260800	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:1260800G>A	uc002cks.3	+	20	4300	c.4052G>A	c.(4051-4053)gGg>gAg	p.G1351E	CACNA1H_uc002ckt.3_Missense_Mutation_p.G1351E|CACNA1H_uc002cku.3_Missense_Mutation_p.G57E|CACNA1H_uc010brj.3_Missense_Mutation_p.G57E|CACNA1H_uc002ckv.3_Missense_Mutation_p.G57E	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1351					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTGGCCCTGGGGCTGCTGTCC	0.697000														47			5		0	0	0.000602214	0	0
FKBP11	51303	broad.mit.edu	37	12	49315984	49315984	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:49315984G>A	uc001rsp.3	-	6	508	c.389_splice	c.e6-1	p.A130_splice	FKBP11_uc010sma.2_Splice_Site_p.A28_splice|FKBP11_uc001rsq.4_3'UTR	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	Homo sapiens FK506 binding protein 11, 19 kDa (FKBP11), transcript variant 1, mRNA.	130	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						CACTGCATCCGCTGGAGAGGC	0.532000														57			12		0	0	0.00244969	0	0
TCRVA15	0	broad.mit.edu	37	14	22205078	22205078	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:22205078G>A	uc001wbp.2	+	1	191	c.142G>A	c.(142-144)Gat>Aat	p.D48N	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		TGCTACAAATGATTATATCAC	0.423000														64			8		0	0	0.00307968	0	0
RP1	6101	broad.mit.edu	37	8	55539221	55539221	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55539221C>T	uc003xsd.1	+	3	2927	c.2779C>T	c.(2779-2781)Cca>Tca	p.P927S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	927					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAATCCATATCCAACTTTAAA	0.328000														39			6		0	0	0.00198382	0	0
DNAH11	8701	broad.mit.edu	37	7	21805064	21805064	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:21805064C>T	uc003svc.3	+	55	9011	c.8980C>T	c.(8980-8982)Cca>Tca	p.P2994S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2994	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGTTTCTCTCCAGTTGGTCG	0.502000									Kartagener syndrome					157			14		0	0	0.000566183	0	0
OR1N2	138882	broad.mit.edu	37	9	125315671	125315671	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:125315671C>T	uc011lyx.2	+	0	223	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCTCCATACTCCCATGTACTT	0.507000														137			16		0	0	0.000566183	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279242	2279242	+	Silent	SNP	G	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:2279242G>T	uc003slm.3	-	1	138	c.109C>A	c.(109-111)Cga>Aga	p.R37R	FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	37					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CTGAGATGTCGGGTCAGCCAC	0.562000														125			7		0.00307968	0.00895213	0.00307968	1	0
MYOCD	93649	broad.mit.edu	37	17	12656507	12656507	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:12656507C>T	uc002gno.2	+	9	2201	c.1902C>T	c.(1900-1902)tcC>tcT	p.S634S	MYOCD_uc002gnn.2_Silent_p.S634S|MYOCD_uc002gnp.1_Silent_p.S538S|MYOCD_uc002gnq.2_Silent_p.S353S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	634					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.S634S(3)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCAGTGTTCCCCTCAGCATT	0.547000														122			15		0	0	0.00400662	0	0
CCDC170	80129	broad.mit.edu	37	6	151865752	151865752	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:151865752G>A	uc003qol.3	+	3	578	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	163																	AAGTTTCAAAGAATTGCAGGA	0.348000														37			7		0	0	0.00198382	0	0
B4GALT3	8703	broad.mit.edu	37	1	161141693	161141693	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:161141693G>A	uc001fys.2	-	7	1751	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron|B4GALT3_uc001fyr.2_Silent_p.F365F|B4GALT3_uc001fyq.2_Silent_p.F365F|B4GALT3_uc001fyp.1_Non-coding_Transcript	NM_001199874	NP_001186803	O60512	B4GT3_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3), transcript variant 3, mRNA.	365					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TCTCTTGACGGAAGGCTTGGG	0.612000														91			7		0	0	0.00198382	0	0
PROSER1	80209	broad.mit.edu	37	13	39597248	39597248	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:39597248G>A	uc001uwy.3	-	7	1457	c.584C>T	c.(583-585)cCa>cTa	p.P195L	PROSER1_uc001uwz.3_Missense_Mutation_p.P173L	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	195	Pro-rich.																AGGTTTATGTGGATTATATGT	0.378000														54			5		0	0	0.00198382	0	0
NRXN1	9378	broad.mit.edu	37	2	50850704	50850704	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:50850704G>A	uc021vhh.1	-	4	1803	c.882C>T	c.(880-882)taC>taT	p.Y294Y	NRXN1_uc002rxb.4_5'UTR|NRXN1_uc021vhg.1_Silent_p.Y327Y|NRXN1_uc021vhi.1_Silent_p.Y323Y|NRXN1_uc021vhj.1_Silent_p.Y290Y|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	294	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGACAAGTCGTAGCAGAAGT	0.378000														34			5		0	0	0.000602214	0	0
FBXW10	10517	broad.mit.edu	37	17	18682422	18682422	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:18682422G>A	uc002gul.3	+	11	3229	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V	FBXW10_uc002guj.3_Silent_p.V989V|FBXW10_uc002guk.3_Silent_p.V990V|FBXW10_uc010cqh.2_Silent_p.V937V|FAM18B1_uc002gum.2_5'Flank	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	990										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGTTGACCGTGAAGGAGGAGA	0.512000														89			14		0	0	0.00074312	0	0
SNTG1	54212	broad.mit.edu	37	8	51449301	51449301	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:51449301G>A	uc010lxy.1	+	11	984	c.613G>A	c.(613-615)Gac>Aac	p.D205N	SNTG1_uc003xqs.1_Missense_Mutation_p.D205N|SNTG1_uc010lxz.1_Missense_Mutation_p.D205N|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	205					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCGATGGTGCGACCTCAGACT	0.478000														122			10		0	0	0.000442599	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018069	112018069	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:112018069G>A	uc004bdz.1	-	9	1279	c.984C>T	c.(982-984)gtC>gtT	p.V328V	EPB41L4B_uc004bea.3_Silent_p.V328V	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	328	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCATCCTCGACCACCACGA	0.458000														88			8		0	0	0.000274275	0	0
ZNF234	10780	broad.mit.edu	37	19	44660662	44660662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:44660662C>T	uc002oym.3	+	5	800	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	ZNF234_uc002oyl.4_Missense_Mutation_p.L165F	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CAACTTTGATCTTCATCAACA	0.398000														70			7		0	0	0.00307968	0	0
APBB2	323	broad.mit.edu	37	4	40892394	40892394	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:40892394G>A	uc003gvn.3	-	11	2146	c.1516C>T	c.(1516-1518)Cgc>Tgc	p.R506C	APBB2_uc010ifu.3_Missense_Mutation_p.R77C|APBB2_uc003gvl.3_Missense_Mutation_p.R505C|APBB2_uc003gvm.3_Missense_Mutation_p.R484C|APBB2_uc011byt.1_Missense_Mutation_p.R467C	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	505	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCATTGTCGCGGCCCACGCCC	0.642000														35			5		0	0	0.000602214	0	0
C12orf54	121273	broad.mit.edu	37	12	48884616	48884616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:48884616C>T	uc001rrr.3	+	5	321	c.190C>T	c.(190-192)Cga>Tga	p.R64*	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	64										endometrium(1)|large_intestine(4)	5						TGCTCGGATTCGAGGTAAAAC	0.433000														110			8		0	0	0.000442599	0	0
C4orf26	152816	broad.mit.edu	37	4	76489604	76489604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:76489604C>T	uc011cbo.2	+	2	427	c.392C>T	c.(391-393)tCc>tTc	p.S131F	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_Silent_p.F116F	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATAGGTATTTCCCCAGAAGAA	0.433000														217			18		0	0	0.00121646	0	0
CACNA1E	777	broad.mit.edu	37	1	181701992	181701992	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:181701992C>T	uc009wxt.3	+	19	2965	c.2770C>T	c.(2770-2772)Cgc>Tgc	p.R924C	CACNA1E_uc001gow.3_Missense_Mutation_p.R924C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R905C|CACNA1E_uc001gox.1_Missense_Mutation_p.R150C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	924					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						CAGCCGGCATCGCCGCGTCAG	0.647000														136			17		0	0	0.000958276	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730519	140730519	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140730519A>C	uc003ljo.2	+	0	692	c.692A>C	c.(691-693)gAt>gCt	p.D231A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.D231A	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	234	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGTTACGGATGCCAATGAT	0.562000														69			6		0	0	0.000274275	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904826	205904826	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:205904826G>A	uc001hdp.3	-	1	237	c.123C>T	c.(121-123)ttC>ttT	p.F41F	SLC26A9_uc001hdq.3_Silent_p.F41F	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	41						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.F41L(1)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCAGTTACCTGAAGGCATTGC	0.537000														204			24		0	0	0.00127121	0	0
ZNF638	27332	broad.mit.edu	37	2	71592753	71592753	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:71592753C>T	uc002shx.3	+	5	2235	c.1912C>T	c.(1912-1914)Cgt>Tgt	p.R638C	ZNF638_uc010fec.2_Missense_Mutation_p.R744C|ZNF638_uc010yqw.1_Missense_Mutation_p.R217C|ZNF638_uc002shw.3_Missense_Mutation_p.R638C|ZNF638_uc002shz.3_Missense_Mutation_p.R638C|ZNF638_uc002shy.3_Missense_Mutation_p.R638C|ZNF638_uc002sia.3_Missense_Mutation_p.R638C|ZNF638_uc002sib.1_Missense_Mutation_p.R638C	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	638					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding	p.R638C(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACATTCTATTCGTTGTAAATC	0.363000														39			5		0	0	0.000602214	0	0
LRP2	4036	broad.mit.edu	37	2	170099976	170099976	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:170099976C>T	uc002ues.3	-	22	3700	c.3487G>A	c.(3487-3489)Gac>Aac	p.D1163N	LRP2_uc010zdf.1_Missense_Mutation_p.D1026N	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1163	LDL-receptor class A 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACGATAGGTCAATACATCGA	0.393000														74			10		0	0	0.000978159	0	0
FAT3	120114	broad.mit.edu	37	11	92086880	92086880	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:92086880G>A	uc001pdj.4	+	0	1619	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	534	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGAAGAACTGGATTTTGAAT	0.398000										TCGA Ovarian(4;0.039)				448			42		0	0	0.00285205	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399799	90399799	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:90399799C>T	uc021opq.1	+	0	1172	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	LRRC8D_uc001dnm.3_Missense_Mutation_p.P391L|LRRC8D_uc001dnn.3_Missense_Mutation_p.P391L	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	391						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TTCAGGATACCTTTGAAGGAA	0.368000														87			19		0	0	0.00074312	0	0
TMEM55A	55529	broad.mit.edu	37	8	92032399	92032399	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:92032399G>A	uc003yes.3	-	2	574	c.348C>T	c.(346-348)tgC>tgT	p.C116C		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	116						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TGGGTCTTGGGCATCCTATTC	0.383000														44			11		0	0	0.00316338	0	0
ANKRD5	63926	broad.mit.edu	37	20	10033912	10033912	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:10033912A>T	uc002wno.3	+	8	2416	c.2023A>T	c.(2023-2025)Aag>Tag	p.K675*	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Nonsense_Mutation_p.K675*|ANKRD5_uc010gbz.3_Nonsense_Mutation_p.K486*	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	675							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						CCCTGAAATTAAGAAAGAAGA	0.363000														66			9		0	0	0.000442599	0	0
SYNE2	23224	broad.mit.edu	37	14	64457194	64457194	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:64457194G>A	uc001xgl.3	+	19	2609	c.2379G>A	c.(2377-2379)atG>atA	p.M793I	SYNE2_uc001xgm.3_Missense_Mutation_p.M793I|SYNE2_uc021ruh.1_Missense_Mutation_p.M793I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	793					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTACAAATGGATATACAAA	0.368000														105			12		0	0	0.00185496	0	0
ZNF229	7772	broad.mit.edu	37	19	44934694	44934694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:44934694C>T	uc002oze.1	-	5	696	c.262G>A	c.(262-264)Gag>Aag	p.E88K	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.E82K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGAATATACTCCGTATCCTTT	0.418000														37			5		0	0	0.00116845	0	0
ECM2	1842	broad.mit.edu	37	9	95285090	95285090	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:95285090C>T	uc011lty.2	-	1	246	c.59G>A	c.(58-60)gGa>gAa	p.G20E	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.G20E|ECM2_uc004asg.3_Missense_Mutation_p.G20E|ECM2_uc011ltz.1_Missense_Mutation_p.G20E|ECM2_uc004asi.3_Missense_Mutation_p.G20E	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	20					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTCATTTTTTCCAAAGTCAGT	0.348000														55			17		0	0	0.000566183	0	0
CECR2	27443	broad.mit.edu	37	22	18028054	18028054	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:18028054C>T	uc010gqw.1	+	15	3005	c.3005C>T	c.(3004-3006)cCc>cTc	p.P1002L	CECR2_uc010gqv.1_Missense_Mutation_p.P862L|CECR2_uc002zml.2_Missense_Mutation_p.P863L|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1046					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AATCCCTGGCCCTCGGATAGC	0.602000														29			5		0	0	0.00116845	0	0
KIF4B	285643	broad.mit.edu	37	5	154395849	154395849	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:154395849G>A	uc010jih.1	+	0	2590	c.2430G>A	c.(2428-2430)ttG>ttA	p.L810L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	810	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCAAGTTTTGGAGTCAGAAG	0.438000														31			7		0	0	0.00307968	0	0
ZNF835	90485	broad.mit.edu	37	19	57176174	57176174	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:57176174G>A	uc010ygn.2	-	1	620	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCCGGTGTGGATTCTCTGGT	0.637000														39			12		0	0	0.00400662	0	0
C15orf27	123591	broad.mit.edu	37	15	76430217	76430217	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:76430217G>A	uc002bbq.3	+	2	363	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	70						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AAATCTGGACGAAGATTACCA	0.577000														57			10		0	0	0.000442599	0	0
MYH11	4629	broad.mit.edu	37	16	15814883	15814883	+	Missense_Mutation	SNP	C	G	G	rs137934837	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:15814883C>G	uc002ddx.3	-	33	4732	c.4625G>C	c.(4624-4626)cGg>cCg	p.R1542P	MYH11_uc002ddv.3_Missense_Mutation_p.R1542P|MYH11_uc002ddw.3_Missense_Mutation_p.R1535P|MYH11_uc002ddy.3_Missense_Mutation_p.R1535P|MYH11_uc010bvg.3_Missense_Mutation_p.R1367P|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.R241P|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1535					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTCCAGGGCCCGCTTGGACTT	0.602000			T	CBFB	AML									61			12		0	0	0.00185496	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401052	17401052	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:17401052C>T	uc011kye.2	+	1	372	c.324C>T	c.(322-324)atC>atT	p.I108I	SLC7A2_uc011kyc.2_Silent_p.I68I|SLC7A2_uc011kyd.2_Silent_p.I108I	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	68					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCCCAGCATCGTGGTGTCCT	0.617000														31			5		0	0	0.00116845	0	0
HTR3B	9177	broad.mit.edu	37	11	113780094	113780094	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:113780094C>T	uc001pok.3	+	1	268	c.130C>T	c.(130-132)Cat>Tat	p.H44Y	HTR3B_uc001pol.3_Missense_Mutation_p.H33Y	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	44					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		ACAGAAATATCATAAAGAAGT	0.438000														77			11		0	0	0.000978159	0	0
AQP9	366	broad.mit.edu	37	15	58430789	58430789	+	Missense_Mutation	SNP	G	A	A	rs150714814		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:58430789G>A	uc002aez.2	+	0	382	c.25G>A	c.(25-27)Gga>Aga	p.G9R	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Intron	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	9					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGCAGAAAAGGGAAAAAGCTT	0.473000														67			6		0	0	0.00116845	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825070	26825070	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:26825070G>A	uc001iss.3	+	9	1289	c.968G>A	c.(967-969)gGa>gAa	p.G323E	APBB1IP_uc009xks.1_Missense_Mutation_p.G323E	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	323	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.G323E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AAAGAAGATGGAAAGAAATCC	0.368000														178			34		0	0	0.00375469	0	0
SAMD7	344658	broad.mit.edu	37	3	169642886	169642886	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:169642886C>T	uc003fgd.3	+	4	519	c.252C>T	c.(250-252)gcC>gcT	p.A84A	SAMD7_uc003fge.3_Silent_p.A84A|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	84										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCAGTGGCCAGAAGGAATG	0.358000														49			7		0	0	0.000274275	0	0
AVIL	10677	broad.mit.edu	37	12	58204655	58204655	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:58204655C>A	uc001sqj.2	-	4	531	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	AVIL_uc009zqe.2_Missense_Mutation_p.G161W|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Missense_Mutation_p.G145W|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	168	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATGACTTTCCCAAGGTCCAGC	0.493000														127			7		0.00307968	0.00895213	0.00307968	1	0
SORL1	6653	broad.mit.edu	37	11	121414377	121414377	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:121414377G>A	uc001pxx.3	+	12	1935	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	602					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)		TCTTTGGCTCGAACAAAGAGA	0.507000														109			14		0	0	0.00074312	0	0
GFRA1	2674	broad.mit.edu	37	10	117825120	117825120	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:117825120G>A	uc001lcj.3	-	9	1913	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	GFRA1_uc001lci.3_Silent_p.S400S|GFRA1_uc009xyr.3_Silent_p.S400S	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	405					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCGACACATTGGATTTCAGCT	0.433000														33			6		0	0	0.00198382	0	0
FCHO1	23149	broad.mit.edu	37	19	17888970	17888970	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:17888970G>A	uc002nhg.3	+	18	1563	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	FCHO1_uc010ebb.2_Silent_p.E428E|FCHO1_uc002nhh.2_Silent_p.E428E|FCHO1_uc010xpw.1_Silent_p.E378E	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	428										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCAGTCAGAGGAGCAGGTGT	0.557000														84			8		0	0	0.000274275	0	0
CCDC158	339965	broad.mit.edu	37	4	77317555	77317555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:77317555G>A	uc003hkb.4	-	2	308	c.155C>T	c.(154-156)cCt>cTt	p.P52L	CCDC158_uc003hkd.3_Missense_Mutation_p.P52L	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	52										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGGGAAAAAAGGAACCTGTGT	0.343000														71			7		0	0	0.00307968	0	0
ZNF623	9831	broad.mit.edu	37	8	144732969	144732969	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:144732969C>T	uc003yzd.2	+	0	1016	c.927C>T	c.(925-927)caC>caT	p.H309H	ZNF623_uc011lkp.1_Silent_p.H269H|ZNF623_uc003yzc.2_Silent_p.H269H	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	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;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTATTGAACACCAGAGAATTC	0.458000														73			10		0	0	0.00136819	0	0
ABCC3	8714	broad.mit.edu	37	17	48752800	48752800	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:48752800G>A	uc002isl.3	+	19	2757	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	893					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GACAGACAATGATCCAGTCAC	0.567000														68			9		0	0	0.000442599	0	0
C10orf68	79741	broad.mit.edu	37	10	33143406	33143406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:33143406C>T	uc001iwm.1	+	19	2077	c.1841C>T	c.(1840-1842)cCt>cTt	p.P614L	C10orf68_uc001iwl.1_Missense_Mutation_p.P569L|C10orf68_uc001iwn.4_Missense_Mutation_p.P610L|C10orf68_uc010qei.1_Missense_Mutation_p.P586L|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	610										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GTTGGAAAACCTACCTATAAA	0.343000														20			6		0	0	0.00116845	0	0
OR51E1	143503	broad.mit.edu	37	11	4674628	4674628	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:4674628C>T	uc021qcq.1	+	0	872	c.872C>T	c.(871-873)cCa>cTa	p.P291L	OR51E1_uc001lzi.4_Missense_Mutation_p.P291L	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCTCAACCCAATTGTCTAT	0.512000														88			12		0	0	0.00185496	0	0
HTR2A	3356	broad.mit.edu	37	13	47466724	47466724	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:47466724C>T	uc010acr.3	-	3	1102	c.413_splice	c.e3-1	p.G138_splice	HTR2A_uc001vbr.3_Splice_Site_p.W54_splice	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	138					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCACCGGTACCCTATGAGGC	0.572000														45			4		0	0	0.00024832	0	0
C6	729	broad.mit.edu	37	5	41158779	41158779	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:41158779G>A	uc003jmk.2	-	12	2175	c.1965C>T	c.(1963-1965)atC>atT	p.I655I	C6_uc003jml.1_Silent_p.I655I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	655	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCTGACCCGGATAAATCCAT	0.388000														30			5		0	0	0.00116845	0	0
PCLO	27445	broad.mit.edu	37	7	82764435	82764435	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:82764435C>T	uc003uhx.2	-	2	2720	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	PCLO_uc003uhv.2_Missense_Mutation_p.E811K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	757	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGACTTTTTCCCCTGTTGGT	0.433000														185			19		0	0	0.00395357	0	0
TARBP1	6894	broad.mit.edu	37	1	234596109	234596109	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:234596109G>A	uc001hwd.3	-	6	1433	c.1433C>T	c.(1432-1434)aCa>aTa	p.T478I		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	478					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATGCCTACTTGTCATCTTCCG	0.388000														52			6		0	0	0.00198382	0	0
COL14A1	7373	broad.mit.edu	37	8	121381578	121381578	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:121381578G>A	uc003yox.3	+	46	5430	c.5165G>A	c.(5164-5166)gGg>gAg	p.G1722E	COL14A1_uc003yoz.3_Missense_Mutation_p.G687E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1722	Triple-helical region 2 (COL1).				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)			GGACCTTCAGGGGAGAGTCGG	0.557000														61			8		0	0	0.000442599	0	0
MCL1	4170	broad.mit.edu	37	1	150551372	150551372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:150551372G>A	uc001euz.3	-	0	843	c.635C>T	c.(634-636)aCc>aTc	p.T212I	MCL1_uc010pch.2_Missense_Mutation_p.T102I|MCL1_uc021oyf.1_Missense_Mutation_p.T59I|MCL1_uc001eva.3_Missense_Mutation_p.T212I	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	212					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGTCGTAAGGTCTCCAGCGC	0.602000														82			19		0	0	0.00152264	0	0
HTR3E	285242	broad.mit.edu	37	3	183818415	183818415	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:183818415C>T	uc010hxr.3	+	0	449	c.255C>T	c.(253-255)ttC>ttT	p.F85F	HTR3E_uc010hxq.3_Silent_p.F70F|HTR3E_uc003fml.4_Silent_p.F70F|HTR3E_uc003fmm.3_Silent_p.F85F|HTR3E_uc003fmn.3_Silent_p.F85F	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	70						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACATCTCCTTCGCGATGTCTG	0.557000														105			29		0	0	0.00127121	0	0
NPR1	4881	broad.mit.edu	37	1	153659212	153659212	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:153659212C>A	uc001fcs.4	+	10	2270	c.1849C>A	c.(1849-1851)Cgt>Agt	p.R617S	NPR1_uc010pdz.2_Missense_Mutation_p.R363S|NPR1_uc010pea.2_Missense_Mutation_p.R95S	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	617	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTACTGTCCCCGTGGGAGCCT	0.607000														67			7		0.00198382	0.00580084	0.00198382	1	0
ERBB4	2066	broad.mit.edu	37	2	212251634	212251634	+	Missense_Mutation	SNP	C	T	T	rs3748961		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:212251634C>T	uc002veg.1	-	26	3523	c.3425G>A	c.(3424-3426)cGa>cAa	p.R1142Q	ERBB4_uc002veh.1_Missense_Mutation_p.R1126Q|ERBB4_uc010zji.1_Missense_Mutation_p.R1132Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R1116Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1142					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)		CAGCTCTCCTCGTGGGCTCCG	0.537000										TSP Lung(8;0.080)				74			10		0	0	0.00136819	0	0
IREB2	3658	broad.mit.edu	37	15	78780592	78780592	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:78780592G>A	uc002bdr.2	+	14	2027	c.1865G>A	c.(1864-1866)cGt>cAt	p.R622H	IREB2_uc010unb.1_Missense_Mutation_p.R372H	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	622							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GATTGTGTTCGTGCCAATTAT	0.378000														100			11		0	0	0.000673444	0	0
LIN28B	389421	broad.mit.edu	37	6	105405976	105405976	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:105405976G>A	uc003pqv.1	+	1	216	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	LIN28B_uc010kda.1_5'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	5					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding	p.G4S(1)		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)				CTTCTCAGGCGGGGCTAGCAA	0.517000														93			11		0	0	0.000978159	0	0
ADAM7	8756	broad.mit.edu	37	8	24365042	24365042	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:24365042C>G	uc003xeb.3	+	20	2371	c.2258C>G	c.(2257-2259)gCc>gGc	p.A753G	ADAM7_uc003xec.3_Intron	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	753					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AATCAAAGTGCCAAGTGGTAG	0.378000														63			5		0	0	0.00198382	0	0
DMBT1	1755	broad.mit.edu	37	10	124390648	124390648	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:124390648G>A	uc001lgk.1	+	45	5916	c.5810G>A	c.(5809-5811)gGa>gAa	p.G1937E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1927E|DMBT1_uc001lgm.1_Missense_Mutation_p.G1309E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1937E|DMBT1_uc021qag.1_Missense_Mutation_p.G1927E|DMBT1_uc021qah.1_Missense_Mutation_p.G1309E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1937E|DMBT1_uc010qtx.1_Missense_Mutation_p.G657E|DMBT1_uc009yab.1_Missense_Mutation_p.G640E|DMBT1_uc009yac.1_Missense_Mutation_p.G231E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1937	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCTTGGAAATGCATAT	0.582000														57			11		0	0	0.000673444	0	0
PHYH	5264	broad.mit.edu	37	10	13337514	13337514	+	Missense_Mutation	SNP	G	A	A	rs141855372	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:13337514G>A	uc001imf.3	-	2	315	c.227C>T	c.(226-228)gCc>gTc	p.A76V	PHYH_uc001ime.3_5'UTR	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	76					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTGAATATCGGCATCAGGTAC	0.353000														79			5		0	0	0.000602214	0	0
TTC14	151613	broad.mit.edu	37	3	180322051	180322051	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:180322051C>T	uc003fkk.3	+	3	657	c.525C>T	c.(523-525)aaC>aaT	p.N175N	TTC14_uc003fkl.3_Silent_p.N175N|TTC14_uc003fkm.2_Silent_p.N175N	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	175	S1 motif.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCACAGTAACCATGGGGATC	0.338000														68			12		0	0	0.00185496	0	0
MYT1L	23040	broad.mit.edu	37	2	1926616	1926616	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:1926616C>T	uc002qxe.3	-	9	1752	c.925G>A	c.(925-927)Gga>Aga	p.G309R	MYT1L_uc002qxd.3_Missense_Mutation_p.G309R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	309					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCATGAGTCCGTTGTTCATG	0.483000														161			13		0	0	0.00185496	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612490	96612490	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:96612490G>A	uc010qnz.2	+	9	1292	c.1292_splice	c.e9-1	p.G431_splice	CYP2C19_uc010qny.2_Splice_Site_p.G409_splice	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	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														51			17		0	0	0.00152264	0	0
FYN	2534	broad.mit.edu	37	6	111995755	111995755	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:111995755G>A	uc003pvj.3	-	11	1692	c.1352C>T	c.(1351-1353)tCt>tTt	p.S451F	FYN_uc003pvi.3_Missense_Mutation_p.S396F|FYN_uc003pvk.3_Missense_Mutation_p.S451F|FYN_uc003pvh.3_Missense_Mutation_p.S448F	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	451	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GATTCCAAAAGACCACACGTC	0.527000														165			13		0	0	0.00185496	0	0
CSHL1	1444	broad.mit.edu	37	17	61987861	61987861	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:61987861G>A	uc002jda.1	-	2	287	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CSHL1_uc002jcz.1_Intron|CSHL1_uc002jdb.1_5'UTR|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc021ubn.1_Missense_Mutation_p.S106F	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	75						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						AGTCATGCAGGAATGAATACT	0.517000														144			21		0	0	0.00278032	0	0
POTEF	728378	broad.mit.edu	37	2	130877882	130877882	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:130877882G>A	uc010fmh.2	-	2	607	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	69						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						TGCAGCAGGGGAAGCAGTGGC	0.592000														222			25		0	0	0.001512	0	0
ADCY8	114	broad.mit.edu	37	8	132052058	132052058	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:132052058G>A	uc003ytd.4	-	0	778	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ADCY8_uc010mds.3_Silent_p.F174F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	174					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	p.F174L(2)		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)			TTTGGCCCAAGAAATAGCGCT	0.547000										HNSCC(32;0.087)				55			6		0	0	0.00116845	0	0
NKAPL	222698	broad.mit.edu	37	6	28227578	28227578	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:28227578C>T	uc003nkt.3	+	0	481	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	143								p.K142R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CTCCAAAGTTCCCTCAGCTAG	0.517000														199			20		0	0	0.00229938	0	0
MYH4	4622	broad.mit.edu	37	17	10356585	10356585	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10356585C>T	uc002gmn.3	-	23	3106	c.2995G>A	c.(2995-2997)Gag>Aag	p.E999K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	999					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTTCTTCTCCTTGGTCAGC	0.488000														178			14		0	0	0.000566183	0	0
C10orf54	64115	broad.mit.edu	37	10	73511448	73511449	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:73511448_73511449CC>TT	uc001jsd.3	-	5	1015_1016	c.874_875GG>AA	c.(874-876)gga>AAa	p.G292K	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.G160K	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	292						integral to membrane	receptor activity	p.G292R(2)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAAGACGTCTCCGGGGCCTGGA	0.619000														48			12		0	0	6.4e-05	0	0
OR4M2	390538	broad.mit.edu	37	15	22369154	22369154	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:22369154C>T	uc010tzu.2	+	0	677	c.579C>T	c.(577-579)ttC>ttT	p.F193F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCAACACCTTCCCAGAGGAGT	0.473000														93			9		0	0	0.000978159	0	0
DBC1	1620	broad.mit.edu	37	9	122011315	122011315	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:122011315C>T	uc004bkc.2	-	2	788	c.332G>A	c.(331-333)aGa>aAa	p.R111K	DBC1_uc004bkd.2_Missense_Mutation_p.R111K	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	111	MACPF.				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						AGTGGTAGGTCTCCTGCCAAG	0.567000														68			8		0	0	0.000442599	0	0
MYO7A	4647	broad.mit.edu	37	11	76924904	76924904	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:76924904G>A	uc001oyb.2	+	48	6711	c.6439_splice	c.e48-1	p.D2147_splice	MYO7A_uc001oyc.2_Splice_Site_p.D2107_splice|MYO7A_uc001oye.2_Splice_Site	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	2147	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCTCCCCCAGGATATCCTCA	0.602000														79			7		0	0	0.00198382	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058021	46058021	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr21:46058021C>T	uc002zfq.3	+	0	749	c.687C>T	c.(685-687)ctC>ctT	p.L229L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	229						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GTGTTTCCCTCCTCTGCCGCC	0.682000														77			9		0	0	0.000274275	0	0
PHC3	80012	broad.mit.edu	37	3	169846701	169846701	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:169846701G>A	uc003fgl.2	-	7	1593	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F	PHC3_uc010hws.1_Missense_Mutation_p.S508F|PHC3_uc011bpq.1_Missense_Mutation_p.S467F|PHC3_uc011bpr.1_Missense_Mutation_p.S434F	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	508	Gln-rich.|Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.Q520Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGCTGGAGGAGATGTCGACAT	0.517000														66			23		0	0	0.00278032	0	0
MYH2	4620	broad.mit.edu	37	17	10435139	10435139	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10435139C>T	uc010coi.3	-	21	2636	c.2508G>A	c.(2506-2508)atG>atA	p.M836I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M836I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	836					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGAAGAGTTTCATCCAGGGCC	0.403000														85			7		0	0	0.00198382	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714531	138714532	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:138714531_138714532GG>AA	uc004cgr.4	-	10	1975_1976	c.1975_1976CC>TT	c.(1975-1977)ccc>TTc	p.P659F	CAMSAP1_uc004cgq.4_Missense_Mutation_p.P549F|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P381F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	659						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GATGCCCATGGGGAATTCTGAG	0.594000														46			5		0	0	6.4e-05	0	0
ATP8A1	10396	broad.mit.edu	37	4	42583715	42583715	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:42583715G>A	uc003gwr.2	-	9	989	c.757C>T	c.(757-759)Cga>Tga	p.R253*	ATP8A1_uc003gws.2_Nonsense_Mutation_p.R253*|ATP8A1_uc011byz.1_Nonsense_Mutation_p.R253*	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	253					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|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)	TGAGCTCCTCGAAGAAGAATC	0.408000														94			8		0	0	0.000673444	0	0
DPP6	1804	broad.mit.edu	37	7	154561201	154561201	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:154561201G>A	uc003wlk.3	+	8	1087	c.958G>A	c.(958-960)Gat>Aat	p.D320N	DPP6_uc003wli.3_Missense_Mutation_p.D256N|DPP6_uc003wlm.3_Missense_Mutation_p.D258N|DPP6_uc011kvq.2_Missense_Mutation_p.D213N	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	320					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)			CGCCATCAATGATTCCCGTGT	0.547000														50			9		0	0	0.000673444	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74651289	74651289	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:74651289G>T	uc004ecg.3	-	4	924	c.446C>A	c.(445-447)gCt>gAt	p.A149D	ZDHHC15_uc004ech.3_Missense_Mutation_p.A140D|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	149						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CACTTACATAGCACAGACAGA	0.453000														21			7		1.12685e-05	3.32259e-05	0.000274275	1	0
OTX2	5015	broad.mit.edu	37	14	57269016	57269016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:57269016C>T	uc001xcq.3	-	4	605	c.331G>A	c.(331-333)Gga>Aga	p.G111R	OTX2_uc001xcp.3_Missense_Mutation_p.G103R|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Missense_Mutation_p.G103R	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	103					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTTTGACCTCCATTCTGCTGT	0.453000														120			9		0	0	0.000274275	0	0
HGF	3082	broad.mit.edu	37	7	81372765	81372765	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:81372765C>T	uc003uhl.3	-	6	934	c.769G>A	c.(769-771)Gat>Aat	p.D257N	HGF_uc003uhm.3_Missense_Mutation_p.D252N|HGF_uc003uhn.1_Missense_Mutation_p.D257N|HGF_uc003uho.1_Missense_Mutation_p.D252N	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	257	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAATAATTATCATCAAAGCCC	0.488000														47			11		0	0	0.000978159	0	0
PCLO	27445	broad.mit.edu	37	7	82474693	82474693	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:82474693C>T	uc003uhx.2	-	12	14229	c.13940G>A	c.(13939-13941)gGa>gAa	p.G4647E	PCLO_uc003uhv.2_Missense_Mutation_p.G4647E|PCLO_uc003uht.1_Missense_Mutation_p.G98E|PCLO_uc003uhu.1_Missense_Mutation_p.G77E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4535	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACATGAGATCCTTTTTCAAC	0.532000														22			6		0	0	0.00116845	0	0
ENPEP	2028	broad.mit.edu	37	4	111397993	111397993	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:111397993C>T	uc003iab.4	+	0	765	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	141					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGACCAGGATCACCCGGCTCC	0.637000														136			16		0	0	0.000566183	0	0
MYH2	4620	broad.mit.edu	37	17	10433391	10433391	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10433391C>T	uc010coi.3	-	23	2826	c.2698_splice	c.e23-1	p.E900_splice	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Splice_Site_p.E900_splice|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	900					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTCGGCTTCCTTAAGTTGG	0.388000														121			7		0	0	0.000274275	0	0
KIF20B	9585	broad.mit.edu	37	10	91498211	91498211	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:91498211C>T	uc001kgs.1	+	19	3685	c.3613C>T	c.(3613-3615)Caa>Taa	p.Q1205*	KIF20B_uc001kgr.1_Nonsense_Mutation_p.Q1165*|KIF20B_uc001kgt.1_Nonsense_Mutation_p.Q416*|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1205					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAGGAATTTCAAGAACATCT	0.318000														58			17		0	0	0.00400662	0	0
AGRN	375790	broad.mit.edu	37	1	985855	985856	+	Missense_Mutation	DNP	CC	TT	TT	rs147990356	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:985855_985856CC>TT	uc001ack.2	+	28	5075_5076	c.5025_5026CC>TT	c.(5023-5028)ggcctc>ggTTtc	p.L1676F		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1676	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCCCAGCGGCCTCCTGCTCTA	0.673000														30			8		0	0	6.4e-05	0	0
ZNF184	7738	broad.mit.edu	37	6	27420976	27420976	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:27420976A>G	uc003njj.3	-	4	1173	c.362T>C	c.(361-363)cTa>cCa	p.L121P	ZNF184_uc010jqv.3_Missense_Mutation_p.L121P|ZNF184_uc003nji.3_Missense_Mutation_p.L121P	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTCTGGAGATAGCTCTTCTTC	0.403000														93			5		0	0	0.000602214	0	0
TLL2	7093	broad.mit.edu	37	10	98170121	98170121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:98170121C>T	uc001kml.2	-	8	1400	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	TLL2_uc009xvf.2_Missense_Mutation_p.E365K	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	387	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTACCTTTTCCCCTGGGGTG	0.522000														35			8		0	0	0.000978159	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248480	49248480	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:49248480C>T	uc002pkj.3	-	2	849	c.301G>A	c.(301-303)Gat>Aat	p.D101N	IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	101					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCTTTTACATCACTGTCTGTG	0.502000														84			10		0	0	0.00136819	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215793	20215793	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:20215793C>T	uc010tkt.2	+	0	207	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTCTCTTTCATTGACCTAT	0.458000														108			14		0	0	0.00185496	0	0
GRHL2	79977	broad.mit.edu	37	8	102570758	102570758	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:102570758G>A	uc010mbu.3	+	3	726	c.396G>A	c.(394-396)gaG>gaA	p.E132E	GRHL2_uc011lhi.1_Silent_p.E132E	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	132						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)			ATCACCTGGAGAATTCCAAGC	0.507000														125			12		0	0	0.00185496	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803973	50803973	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:50803973C>T	uc003pag.3	+	3	967	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	267					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ATGCATCTCTCCTCGGCGGAG	0.458000														43			7		0	0	0.000442599	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269298	150269298	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:150269298G>A	uc003whl.3	+	2	222	c.140G>A	c.(139-141)gGa>gAa	p.G47E	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.G61E	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	47							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)		AGTGCAACAGGAAACAGCATC	0.463000														52			7		0	0	0.00198382	0	0
GLG1	2734	broad.mit.edu	37	16	74542786	74542786	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:74542786G>A	uc002fcx.3	-	2	559	c.509C>T	c.(508-510)cCc>cTc	p.P170L	GLG1_uc002fcw.4_Missense_Mutation_p.P159L|GLG1_uc002fcy.4_Missense_Mutation_p.P170L|GLG1_uc002fcz.4_5'UTR	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	170						Golgi membrane|integral to membrane	receptor binding	p.P170P(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCAAATTTGGGATCTGTAGT	0.333000														97			9		0	0	0.000442599	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236523	140236523	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140236523G>A	uc003lhx.2	+	0	890	c.890G>A	c.(889-891)aGg>aAg	p.R297K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.R297K|PCDHAC2_uc011dad.2_Missense_Mutation_p.R297K	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	313	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAACGAAAGGACGGGAGAA	0.368000														49			12		0	0	0.00185496	0	0
NLRC5	84166	broad.mit.edu	37	16	57113007	57113007	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:57113007C>T	uc021tiu.1	+	42	5254	c.5127C>T	c.(5125-5127)gcC>gcT	p.A1709A	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Silent_p.A251A|NLRC5_uc002ekr.1_Silent_p.A596A	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1709					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAGCCTGGCCCAGGCCCTGG	0.657000														114			10		0	0	0.00185496	0	0
TRPM3	80036	broad.mit.edu	37	9	73477836	73477836	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:73477836G>A	uc004aid.3	-	2	694	c.450C>T	c.(448-450)tcC>tcT	p.S150S	TRPM3_uc004ahw.3_5'UTR|TRPM3_uc004ahx.3_5'UTR|TRPM3_uc004ahy.3_5'UTR|TRPM3_uc004ahz.3_5'UTR|TRPM3_uc004aia.3_5'UTR|TRPM3_uc004aib.3_5'UTR|TRPM3_uc004aic.3_Silent_p.S150S|TRPM3_uc010mor.3_Silent_p.S150S|TRPM3_uc004aie.3_5'UTR|TRPM3_uc004aif.3_5'UTR|TRPM3_uc004aig.3_5'UTR|TRPM3_uc004aii.3_Silent_p.S152S	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	150						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGCTTTGTTGGAATGGCCAC	0.458000														61			13		0	0	0.00400662	0	0
RNF207	388591	broad.mit.edu	37	1	6279316	6279316	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:6279316C>A	uc001amg.3	+	17	1928	c.1754C>A	c.(1753-1755)cCg>cAg	p.P585Q		NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	585						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GGAAGTGTCCCGGAAAAGAGA	0.502000														101			8		0.00307968	0.00895213	0.00307968	1	0
PROM1	8842	broad.mit.edu	37	4	15987392	15987392	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:15987392G>A	uc003goo.2	-	20	2483	c.2271C>T	c.(2269-2271)atC>atT	p.I757I	PROM1_uc003gor.2_Silent_p.I757I|PROM1_uc003gos.2_Silent_p.I748I|PROM1_uc003got.2_Silent_p.I757I|PROM1_uc003gou.2_Silent_p.I748I|PROM1_uc003gop.2_Silent_p.I748I|PROM1_uc003goq.3_Silent_p.I748I	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	757					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.E757Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CAGAGAACTCGATCCACTGCA	0.323000														21			4		0	0	0.000602214	0	0
OR2T4	127074	broad.mit.edu	37	1	248525317	248525317	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248525317C>T	uc001ieh.1	+	0	435	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CAGAATTTTTCCTTCTAGCCA	0.517000														113			23		0	0	0.00278032	0	0
CACNA1C	775	broad.mit.edu	37	12	2764372	2764372	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:2764372G>C	uc009zdu.1	+	35	4657	c.4344G>C	c.(4342-4344)caG>caC	p.Q1448H	CACNA1C_uc001qkc.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qjz.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkd.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qke.2_Missense_Mutation_p.Q1389H|CACNA1C_uc001qkf.2_Missense_Mutation_p.Q1389H|CACNA1C_uc009zdw.1_Missense_Mutation_p.Q1422H|CACNA1C_uc001qkg.2_Missense_Mutation_p.Q1387H|CACNA1C_uc001qkh.2_Missense_Mutation_p.Q1389H|CACNA1C_uc001qkl.2_Missense_Mutation_p.Q1448H|CACNA1C_uc001qkj.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkk.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkn.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkm.2_Missense_Mutation_p.Q1389H|CACNA1C_uc001qko.2_Missense_Mutation_p.Q1420H|CACNA1C_uc001qkp.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkq.2_Missense_Mutation_p.Q1428H|CACNA1C_uc001qku.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkr.2_Missense_Mutation_p.Q1417H|CACNA1C_uc001qks.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qkt.2_Missense_Mutation_p.Q1400H|CACNA1C_uc009zdv.1_Missense_Mutation_p.Q1397H|CACNA1C_uc001qkb.2_Missense_Mutation_p.Q1400H|CACNA1C_uc001qki.1_Missense_Mutation_p.Q1136H|CACNA1C_uc010sea.1_Missense_Mutation_p.Q91H	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1448					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)	ACAACTTTCAGACCTTCCCCC	0.522000														18			4		0	0	0.00024832	0	0
LMO7	4008	broad.mit.edu	37	13	76393596	76393596	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:76393596G>A	uc021rkq.1	+	12	2467	c.2132G>A	c.(2131-2133)aGa>aAa	p.R711K	LMO7_uc010thv.2_Missense_Mutation_p.R429K|LMO7_uc001vjt.1_Missense_Mutation_p.R377K|LMO7_uc001vjv.3_Missense_Mutation_p.R478K|LMO7_uc010thw.2_Missense_Mutation_p.R328K|LMO7_uc001vjw.1_Missense_Mutation_p.R384K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	763						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGAAGAGAGAGAAGAAATT	0.423000														70			9		0	0	0.000274275	0	0
NLRP13	126204	broad.mit.edu	37	19	56424097	56424097	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:56424097C>T	uc010ygg.2	-	4	1111	c.1086G>A	c.(1084-1086)acG>acA	p.T362T		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	362	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGTCTTGATCGTGATCAGTA	0.468000														82			13		0	0	0.00136819	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161029468	161029468	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:161029468C>T	uc001fxl.3	-	1	482	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ARHGAP30_uc001fxk.3_Missense_Mutation_p.E46K|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	46	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACTCCATACTCCTCCACAAAT	0.557000														100			16		0	0	0.00400662	0	0
LGI1	9211	broad.mit.edu	37	10	95553074	95553074	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:95553074G>A	uc001kjc.4	+	6	1141	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	LGI1_uc021pwk.1_Missense_Mutation_p.E269K|LGI1_uc010qnv.2_Missense_Mutation_p.E221K|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	269					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGACCATGTGGAAAAGACCTT	0.373000														95			15		0	0	0.00152264	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958895	50958895	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:50958895G>A	uc002psf.2	+	19	2383	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	778	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTACTGCCTGGAAGGCTGTGA	0.597000														39			4		0	0	0.00024832	0	0
COL9A2	1298	broad.mit.edu	37	1	40775782	40775782	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:40775782C>T	uc001cfh.1	-	15	904	c.792_splice	c.e15+1	p.P264_splice	COL9A2_uc001cfi.1_Splice_Site_p.P83_splice	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	264	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AAGAGGCTTACCGGTGGCCCA	0.607000														102			16		0	0	0.00121646	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166281	19166281	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:19166281T>A	uc001bba.1	-	5	2333	c.2332A>T	c.(2332-2334)Acc>Tcc	p.T778S		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	778					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)	GACATGAAGGTGCAGAGGGAG	0.572000														32			15		0	0	0.00244969	0	0
MUC16	94025	broad.mit.edu	37	19	9066519	9066519	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9066519G>A	uc002mkp.3	-	2	21131	c.20927C>T	c.(20926-20928)cCc>cTc	p.P6976L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6978	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						AGTACCAGTGGGGACTTCTGA	0.483000														108			26		0	0	0.00395357	0	0
CCDC63	160762	broad.mit.edu	37	12	111330918	111330918	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:111330918C>T	uc001trv.1	+	8	1308	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	CCDC63_uc010sye.1_Silent_p.S331S|CCDC63_uc001trw.1_Silent_p.S286S	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	371								p.L370F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGAAATTGTCCCACGATGACA	0.562000														99			11		0	0	0.00244969	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43699348C>T	uc002ovy.3	-	3	889	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.E170K	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000														268			28		0	0	0.00209593	0	0
OR4N5	390437	broad.mit.edu	37	14	20612172	20612172	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:20612172C>T	uc010tla.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AAGGTAATCTCCTATAGAAGC	0.478000														118			11		0	0	0.000978159	0	0
PDE1B	5153	broad.mit.edu	37	12	54969376	54969376	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:54969376C>T	uc001sgd.2	+	11	1620	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	PDE1B_uc010soz.2_Silent_p.L272L|PDE1B_uc010spa.1_Silent_p.L368L|PDE1B_uc001sge.3_Silent_p.L389L|PDE1B_uc001sgf.3_Silent_p.L272L|PDE1B_uc009znq.3_Silent_p.L205L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	409	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TTTCTCCACTCTGTGACCGCA	0.572000														107			14		0	0	0.00074312	0	0
SYTL2	54843	broad.mit.edu	37	11	85445395	85445395	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:85445395G>A	uc010rth.2	-	5	1363	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SYTL2_uc010rtg.2_Missense_Mutation_p.S326F|SYTL2_uc010rti.2_Missense_Mutation_p.S325F|SYTL2_uc010rtj.2_Missense_Mutation_p.S277F|SYTL2_uc001pbf.4_Missense_Mutation_p.S325F|SYTL2_uc010rtf.2_Missense_Mutation_p.S183F	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	325					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.S326F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGCTCCAGGGAGTTTGGGGA	0.448000														120			14		0	0	0.00316338	0	0
LRRC10	376132	broad.mit.edu	37	12	70004285	70004285	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:70004285C>T	uc001svc.3	-	0	658	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	112						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTGGGGAGGTCGCAGAGTTTG	0.572000														78			11		0	0	0.000978159	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439761	150439761	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:150439761G>A	uc022apw.1	+	5	1286	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	GIMAP1-GIMAP5_uc003whr.2_Silent_p.R178R	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		ACCTGGTGCGGGAGTGTGAGA	0.572000														129			10		0	0	0.00185496	0	0
USH2A	7399	broad.mit.edu	37	1	215848644	215848644	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:215848644C>T	uc001hku.1	-	62	12996	c.12609G>A	c.(12607-12609)caG>caA	p.Q4203Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4203	Fibronectin type-III 27.				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)		CCTGGATTGTCTGATTTCCCC	0.423000										HNSCC(13;0.011)				139			20		0	0	0.00152264	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71491667	71491667	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:71491667G>A	uc004agu.3	+	5	580	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	PIP5K1B_uc011lrq.2_Missense_Mutation_p.R92Q|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	92	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TTAGCATTCCGATATTTCAGA	0.373000														62			10		0	0	0.000442599	0	0
RASGRF1	5923	broad.mit.edu	37	15	79317774	79317774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:79317774G>A	uc002beq.3	-	9	1799	c.1424C>T	c.(1423-1425)aCc>aTc	p.T475I	RASGRF1_uc002bep.3_Missense_Mutation_p.T475I|RASGRF1_uc010blm.1_Missense_Mutation_p.T397I|RASGRF1_uc002ber.4_Missense_Mutation_p.T475I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	475	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCGCCCCCTGGTGATCTTGCC	0.567000														92			11		0	0	0.000978159	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	222808	222808	+	RNA	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrGL000192.1:222808G>A	uc010yij.1	-	17		c.3115C>T				NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											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)				ACCTGCTTCGGAGTGGGGCTC	0.428000														23			7		0	0	0.00198382	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564786	47564786	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:47564786C>T	uc001cqu.1	+	7	900	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	299						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCAAAGATTTCTCTGAAGCAG	0.388000														81			20		0	0	0.00278032	0	0
ZNF668	79759	broad.mit.edu	37	16	31073072	31073072	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:31073072G>A	uc021tgt.1	-	3	1602	c.1246C>T	c.(1246-1248)Cac>Tac	p.H416Y	ZNF668_uc010cag.2_Missense_Mutation_p.H393Y|ZNF668_uc010caf.3_Missense_Mutation_p.H393Y|ZNF668_uc002eao.3_Missense_Mutation_p.H393Y	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGTTACAGTGGAAGGGGCGC	0.667000														199			20		0	0	0.00278032	0	0
XKR4	114786	broad.mit.edu	37	8	56436647	56436647	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:56436647C>T	uc003xsf.3	+	2	1846	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	605						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AATAGGTACCCAGCATGGGAG	0.488000														73			7		0	0	0.00198382	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716994	222716994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:222716994G>A	uc001hnh.1	-	1	917	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	287					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R287C(2)|p.R287L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TAGAACTTGCGATTGTGGCGG	0.473000														659			99		0	0	0.00361006	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716972	222716972	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:222716972G>A	uc001hnh.1	-	1	939	c.881C>T	c.(880-882)tCg>tTg	p.S294L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	294					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTCCAGGCACGAATAATAAAT	0.468000														699			113		0	0	0.00361006	0	0
DNAH8	1769	broad.mit.edu	37	6	38950197	38950197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:38950197C>T	uc021yzh.1	+	85	13019	c.12910C>T	c.(12910-12912)Cag>Tag	p.Q4304*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.Q4087*|DNAH8_uc003oog.1_Nonsense_Mutation_p.Q536*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCCAGTGTTCAGTTTATTCA	0.363000														93			11		0	0	0.000978159	0	0
XIRP1	165904	broad.mit.edu	37	3	39226215	39226215	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:39226215G>A	uc003cjk.2	-	1	4951	c.4722C>T	c.(4720-4722)ttC>ttT	p.F1574F	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Silent_p.F257F|XIRP1_uc021wvz.1_Silent_p.F1574F	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1574							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)		GAGGTCCCTGGAAATGGCCTC	0.587000														174			19		0	0	0.00074312	0	0
BICD1	636	broad.mit.edu	37	12	32481285	32481285	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:32481285C>T	uc001rku.3	+	4	1977	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	BICD1_uc001rkv.3_Silent_p.I632I|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	632					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATGCCATAATCCGGGACCAAA	0.488000														120			22		0	0	0.00229938	0	0
PTEN	5728	broad.mit.edu	37	10	89692829	89692829	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:89692829T>G	uc001kfb.3	+	4	1345	c.313T>G	c.(313-315)Tgt>Ggt	p.C105G	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105W(4)|p.C105fs*2(3)|p.C105S(3)|p.Y27fs*1(2)|p.C105G(2)|p.C105Y(2)|p.C105R(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACCCTTTTGTGAAGATCT	0.378000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				56			11		0	0	0.00185496	0	0
CRIM1	51232	broad.mit.edu	37	2	36744661	36744661	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:36744661G>A	uc002rpd.3	+	11	2248	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	728	VWFC 4.				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)				ACGCACCCAGGATTCCTGCTG	0.602000														54			5		0	0	0.00307968	0	0
ZNF461	92283	broad.mit.edu	37	19	37129927	37129927	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:37129927G>A	uc002oem.3	-	5	1548	c.1320C>T	c.(1318-1320)ccC>ccT	p.P440P	ZNF461_uc002oen.3_Silent_p.P409P|ZNF461_uc010xtj.2_Silent_p.P417P	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACACTCATAGGGTTTCTCAC	0.398000														54			6		0	0	0.00307968	0	0
MAN1A1	4121	broad.mit.edu	37	6	119525929	119525929	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:119525929C>T	uc003pym.1	-	6	1553	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	371					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CTCACCTTTTCAGCAAAGATG	0.443000														127			14		0	0	0.000566183	0	0
CSTF2	1478	broad.mit.edu	37	X	100077326	100077327	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:100077326_100077327GG>AA	uc004egh.3	+	2	282_283	c.224_225GG>AA	c.(223-225)cgg>cAA	p.R75Q	CSTF2_uc010nnd.3_Missense_Mutation_p.R75Q|CSTF2_uc004egi.3_Missense_Mutation_p.R75Q	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	75	RRM.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGTGCCATGCGGAACCTGAATG	0.475000														35			17		0	0	6.4e-05	0	0
CPA5	93979	broad.mit.edu	37	7	130002292	130002292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:130002292G>A	uc010lmd.1	+	8	1168	c.548G>A	c.(547-549)gGt>gAt	p.G183D	CPA5_uc003vps.2_Missense_Mutation_p.G183D|CPA5_uc003vpt.2_Missense_Mutation_p.G183D|CPA5_uc010lme.1_Missense_Mutation_p.G183D|CPA5_uc003vpu.1_Missense_Mutation_p.G183D	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	183					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.G182R(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					AGCACTGGAGGTTCTCGGCAC	0.557000														46			6		0	0	0.00307968	0	0
C10orf68	79741	broad.mit.edu	37	10	33134500	33134500	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:33134500A>G	uc001iwm.1	+	13	1443	c.1207A>G	c.(1207-1209)Act>Gct	p.T403A	C10orf68_uc001iwl.1_Missense_Mutation_p.T358A|C10orf68_uc001iwn.4_Missense_Mutation_p.T399A|C10orf68_uc010qei.1_Missense_Mutation_p.T375A|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	399										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGCCTATGCTACTGGAAGAGG	0.308000														97			11		0	0	0.000978159	0	0
C20orf111	51526	broad.mit.edu	37	20	42825852	42825852	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:42825852G>A	uc002xlk.3	-	3	971	c.719C>T	c.(718-720)tCg>tTg	p.S240L		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	240										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GGCGTGCAGCGACTGAGAGTA	0.527000														74			6		0	0	0.00116845	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558632	129558632	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:129558632G>A	uc009zyl.1	-	8	3416	c.3088C>T	c.(3088-3090)Cag>Tag	p.Q1030*	TMEM132D_uc001uia.2_Nonsense_Mutation_p.Q568*	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1030						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACTTTTCTGATCTTTCCCA	0.468000														76			6		0	0	0.00198382	0	0
ERI3	79033	broad.mit.edu	37	1	44820606	44820606	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:44820606G>A	uc001clt.3	-	0	334	c.93C>T	c.(91-93)ctC>ctT	p.L31L	ERI3_uc010okv.2_5'Flank|ERI3_uc010okw.2_5'UTR	NM_024066	NP_076971	O43414	ERI3_HUMAN	Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA.	31						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGTCCAGGGGAGAGTAAGGG	0.701000														23			9		0	0	0.000673444	0	0
NCOA6	23054	broad.mit.edu	37	20	33330467	33330467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:33330467G>A	uc002xav.3	-	11	6164	c.3593C>T	c.(3592-3594)cCa>cTa	p.P1198L	NCOA6_uc002xaw.3_Missense_Mutation_p.P1198L|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1198L|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1198	NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGCCACATTTGGGAAGTGGTG	0.587000														142			17		0	0	0.000566183	0	0
YLPM1	56252	broad.mit.edu	37	14	75248574	75248574	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:75248574C>T	uc001xqj.4	+	3	1952	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCACCATCTCTCTCTTCAAC	0.587000														68			13		0	0	0.00136819	0	0
TPO	7173	broad.mit.edu	37	2	1480956	1480956	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:1480956G>A	uc002qwr.3	+	7	1004	c.918G>A	c.(916-918)ggG>ggA	p.G306G	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G306G|TPO_uc002qwx.3_Silent_p.G306G|TPO_uc002qwu.3_Silent_p.G306G|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.G306G	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	306					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCTCTTTGGGAACCTGTCCA	0.711000														22			4		0	0	0.00024832	0	0
MDC1	9656	broad.mit.edu	37	6	30670353	30670353	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:30670353G>A	uc003nrg.4	-	13	6519	c.6079C>T	c.(6079-6081)Ccc>Tcc	p.P2027S	MDC1_uc003nrf.4_Missense_Mutation_p.P658S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	2027	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGCATGCTGGGTAGGTATGTG	0.517000								Other conserved DNA damage response genes						89			12		0	0	0.00244969	0	0
ITIH5	80760	broad.mit.edu	37	10	7679332	7679332	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:7679332C>T	uc021pmv.1	-	4	617	c.511G>A	c.(511-513)Gag>Aag	p.E171K	ITIH5_uc001ijr.2_Missense_Mutation_p.E171K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	171					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGCTGTGCTCGTACTTGCCC	0.592000														47			7		0	0	0.00307968	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15443927	15443927	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:15443927G>A	uc003gno.3	+	2	654	c.395G>A	c.(394-396)gGa>gAa	p.G132E	C1QTNF7_uc011bxb.2_Missense_Mutation_p.G125E|C1QTNF7_uc003gnp.3_Missense_Mutation_p.G125E	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	125	Collagen-like.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GGACCAAAGGGAGACAGAGGA	0.547000														128			9		0	0	0.000274275	0	0
WDR47	22911	broad.mit.edu	37	1	109556543	109556543	+	Missense_Mutation	SNP	G	A	A	rs140178030	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:109556543G>A	uc001dwl.3	-	3	623	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	WDR47_uc001dwi.3_Missense_Mutation_p.R83C|WDR47_uc001dwj.3_Missense_Mutation_p.R83C|WDR47_uc001dwk.2_Missense_Mutation_p.R55C|WDR47_uc010ovf.2_Missense_Mutation_p.R10C	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	83	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATAATATAACGAAACCTGTGG	0.323000														250			78		0	0	0.00361006	0	0
MPP7	143098	broad.mit.edu	37	10	28347533	28347533	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:28347533C>T	uc001iua.1	-	17	1703	c.1299_splice	c.e17-1	p.K433_splice	MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.K433_splice|MPP7_uc009xla.2_Splice_Site_p.K433_splice|MPP7_uc010qdv.1_Splice_Site	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	433	Guanylate kinase-like.				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						TTCAATAAACCTGTAAAAAAT	0.313000														113			14		0	0	0.00185496	0	0
LAMA2	3908	broad.mit.edu	37	6	129835527	129835527	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:129835527C>T	uc021zfb.1	+	63	9103	c.8998C>T	c.(8998-9000)Cat>Tat	p.H3000Y	LAMA2_uc003qbn.3_Missense_Mutation_p.H2998Y|LAMA2_uc003qbo.3_Missense_Mutation_p.H2994Y|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	3000	Laminin G-like 5.				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)		GTTGATGTTTCATGTGGACAA	0.423000														36			5		0	0	0.000602214	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317856	77317856	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:77317856G>A	uc002ffc.4	-	22	4082	c.3663C>T	c.(3661-3663)atC>atT	p.I1221I		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1221	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACCAAGATCAGATCTTCCTTG	0.512000														55			7		0	0	0.00198382	0	0
ASTN1	460	broad.mit.edu	37	1	176983952	176983952	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:176983952G>A	uc001glc.3	-	7	1710	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	ASTN1_uc001glb.1_Missense_Mutation_p.R500W|ASTN1_uc001gld.1_Missense_Mutation_p.R500W|ASTN1_uc009wwx.1_Missense_Mutation_p.R500W|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	508	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.R500R(1)|p.R500L(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						CATTCGTTCCGAATGCAAAGG	0.493000														254			102		0	0	0.00361006	0	0
DNAH9	1770	broad.mit.edu	37	17	11539967	11539967	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:11539967G>A	uc002gne.3	+	8	1720	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	551	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GACATAGCAGGAAACCTCCTT	0.428000														71			6		0	0	0.00307968	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553074	117553074	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:117553074G>A	uc004bjh.3	-	3	530	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TNFSF15_uc004bjg.3_Silent_p.F79F	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	138					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GGATCAGCAGGAATTTGTTGG	0.498000														75			14		0	0	0.00316338	0	0
ZUFSP	221302	broad.mit.edu	37	6	116988271	116988271	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:116988271T>A	uc003pxf.2	-	1	345	c.85A>T	c.(85-87)Att>Ttt	p.I29F	ZUFSP_uc010kef.2_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	29						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GGACATATAATTTCACTTTCC	0.353000														93			19		0	0	0.00074312	0	0
NLRP2	55655	broad.mit.edu	37	19	55493973	55493973	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:55493973G>A	uc021vbq.1	+	5	1018	c.907G>A	c.(907-909)Gac>Aac	p.D303N	NLRP2_uc010yfp.2_Missense_Mutation_p.D280N|NLRP2_uc002qij.3_Missense_Mutation_p.D303N|NLRP2_uc010esp.3_Missense_Mutation_p.D281N|NLRP2_uc010esn.3_Missense_Mutation_p.D279N|NLRP2_uc010eso.3_Missense_Mutation_p.D300N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	303	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTGATCGAGGACATCTGCGG	0.592000														70			10		0	0	0.000978159	0	0
RXFP1	59350	broad.mit.edu	37	4	159568246	159568246	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:159568246A>G	uc003ipz.3	+	15	1912	c.1649A>G	c.(1648-1650)aAg>aGg	p.K550R	RXFP1_uc010iqk.3_Missense_Mutation_p.K418R|RXFP1_uc011cja.2_Missense_Mutation_p.K445R|RXFP1_uc010iqo.3_Missense_Mutation_p.K502R|RXFP1_uc011cjb.2_Missense_Mutation_p.K448R|RXFP1_uc011cjc.2_Missense_Mutation_p.K469R|RXFP1_uc011cjd.2_Missense_Mutation_p.K469R|RXFP1_uc010iql.3_Missense_Mutation_p.K394R|RXFP1_uc011cje.2_Missense_Mutation_p.K577R|RXFP1_uc010iqm.3_Missense_Mutation_p.K517R|RXFP1_uc011cjf.2_Missense_Mutation_p.K419R|RXFP1_uc010iqn.3_Missense_Mutation_p.K495R	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	550						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)		TTGAGCAATAAGGAATTTTTC	0.368000														52			8		0	0	0.000274275	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683950	3683950	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:3683950G>A	uc002wja.3	-	4	1122	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	SIGLEC1_uc002wiz.4_Silent_p.T374T|SIGLEC1_uc002wjc.3_Silent_p.T285T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	374	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGCCGGAGGGTATGGGAGT	0.587000														69			8		0	0	0.000274275	0	0
MXRA5	25878	broad.mit.edu	37	X	3242165	3242165	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:3242165G>A	uc004crg.4	-	4	1718	c.1561C>T	c.(1561-1563)Ctg>Ttg	p.L521L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	521	Ig-like C2-type 1.					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)				GGCGCTTTCAGGATGGAGCCA	0.537000														33			21		0	0	0.00152264	0	0
PTPRE	5791	broad.mit.edu	37	10	129871687	129871687	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:129871687G>A	uc009yat.3	+	17	2001	c.1584G>A	c.(1582-1584)tgG>tgA	p.W528*	PTPRE_uc001lkb.3_Nonsense_Mutation_p.W517*|PTPRE_uc009yau.2_Nonsense_Mutation_p.W517*|PTPRE_uc001lkd.3_Nonsense_Mutation_p.W459*|PTPRE_uc010quq.1_Nonsense_Mutation_p.W418*	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	517	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TCTGGGAATGGAAATCCCACA	0.602000														52			12		0	0	0.000978159	0	0
LNX1	84708	broad.mit.edu	37	4	54374236	54374236	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:54374236T>G	uc003hag.4	-	2	795	c.539A>C	c.(538-540)gAc>gCc	p.D180A	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D84A|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	180						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGCAGGGTTGTCTAGGCCAGG	0.627000														33			6		0	0	0.00198382	0	0
STK36	27148	broad.mit.edu	37	2	219563577	219563577	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:219563577C>T	uc002viu.3	+	25	3589	c.3310C>T	c.(3310-3312)Ctg>Ttg	p.L1104L	STK36_uc002viv.3_Silent_p.L1083L|STK36_uc002vix.3_Silent_p.L149L	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	1104					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCAAGAGCTTCTGGCTGGCTC	0.587000														67			10		0	0	0.000673444	0	0
PMS1	5378	broad.mit.edu	37	2	190742046	190742046	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:190742046G>A	uc002urh.4	+	12	3212	c.2683G>A	c.(2683-2685)Gag>Aag	p.E895K	PMS1_uc002urk.4_Missense_Mutation_p.E856K|PMS1_uc002uri.4_Missense_Mutation_p.E733K|PMS1_uc010zgc.2_Missense_Mutation_p.E719K|PMS1_uc010zgd.2_Missense_Mutation_p.E719K|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010frz.3_Missense_Mutation_p.E211K|PMS1_uc002url.3_Missense_Mutation_p.E518K|PMS1_uc002urm.3_Non-coding_Transcript	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	895					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTTATCAAAAGAGGACATCCA	0.388000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						50			6		0	0	0.00198382	0	0
OR8B3	390271	broad.mit.edu	37	11	124266939	124266939	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:124266939G>A	uc010saj.2	-	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAAAGAGAAAGAAAAACAGCT	0.373000														23			5		0	0	0.00198382	0	0
ZIM3	114026	broad.mit.edu	37	19	57647152	57647152	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:57647152G>A	uc002qnz.1	-	4	939	c.553C>T	c.(553-555)Cac>Tac	p.H185Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCTCAGGTGACTTTGAAGG	0.413000														154			22		0	0	0.00278032	0	0
ANKFN1	162282	broad.mit.edu	37	17	54431343	54431343	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:54431343C>T	uc002iun.1	+	4	581	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	182										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATATTGCCATCATGACCAACA	0.468000														28			6		0	0	0.00198382	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480115	27480115	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:27480115C>T	uc002rjk.3	-	4	870	c.684G>A	c.(682-684)ggG>ggA	p.G228G	SLC30A3_uc002rjj.3_Missense_Mutation_p.G74E|SLC30A3_uc010ylh.2_Silent_p.G223G	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	228					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGGTGTTCCCCAGGGGCA	0.647000														23			7		0	0	0.00307968	0	0
TOMM40L	84134	broad.mit.edu	37	1	161197992	161197992	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:161197992C>T	uc001fzd.3	+	6	730	c.501C>T	c.(499-501)caC>caT	p.H167H	TOMM40L_uc010pkl.1_Silent_p.H133H|TOMM40L_uc009wue.3_Silent_p.H49H|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Silent_p.H167H	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	167					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGTTGCTCACTTCCTGCAGA	0.577000											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			9		0	0	0.000673444	0	0
APCS	325	broad.mit.edu	37	1	159558147	159558147	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:159558147C>T	uc001ftv.3	+	1	417	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	107	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.K106N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCGAAAAGTTCCCGGCTCCAG	0.433000														55			12		0	0	0.00244969	0	0
OR2M7	391196	broad.mit.edu	37	1	248487187	248487187	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248487187C>T	uc010pzk.2	-	0	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTCCAGATCCCATGTGAATGA	0.438000														180			17		0	0	0.00400662	0	0
YEATS2	55689	broad.mit.edu	37	3	183521850	183521850	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:183521850C>T	uc003fly.2	+	26	3853	c.3658C>T	c.(3658-3660)Ccc>Tcc	p.P1220S	AX746590_uc003fma.1_3'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1220					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACCTGACTCCCCTCAAAAC	0.488000														75			24		0	0	0.00332997	0	0
CACNA1S	779	broad.mit.edu	37	1	201009757	201009757	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:201009757G>A	uc001gvv.3	-	41	5446	c.5219C>T	c.(5218-5220)cCc>cTc	p.P1740L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1740					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TACCTGGCAGGGGGCAGGAGG	0.612000														62			22		0	0	0.00278032	0	0
ANK2	287	broad.mit.edu	37	4	114257035	114257035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:114257035G>A	uc003ibe.4	+	29	3513	c.3413G>A	c.(3412-3414)cGa>cAa	p.R1138Q	ANK2_uc003ibd.4_Missense_Mutation_p.R1129Q|ANK2_uc003ibf.4_Missense_Mutation_p.R1138Q|ANK2_uc011cgc.2_Missense_Mutation_p.R314Q|ANK2_uc003ibg.4_Missense_Mutation_p.R133Q|ANK2_uc003ibc.2_Missense_Mutation_p.R1114Q|ANK2_uc011cgb.1_Missense_Mutation_p.R1153Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1105					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)		GAAAAGAAACGAATCTGCCGC	0.458000														69			14		0	0	0.00244969	0	0
NYAP2	57624	broad.mit.edu	37	2	226273632	226273632	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:226273632G>A	uc002voe.2	+	1	211	c.36G>A	c.(34-36)gaG>gaA	p.E12E	NYAP2_uc010fxa.1_Silent_p.E7E	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	12																	CTAATCCTGAGGAAGACCCTT	0.438000														63			6		0	0	0.00116845	0	0
ZNF649	65251	broad.mit.edu	37	19	52393992	52393992	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:52393992G>A	uc002pxy.3	-	4	1723	c.1397C>T	c.(1396-1398)cCt>cTt	p.P466L	ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.4_5'Flank|ZNF577_uc002pxv.3_5'Flank|ZNF577_uc002pxw.3_5'Flank|ZNF577_uc010yde.2_5'Flank|ZNF577_uc010ydf.1_Intron	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	466					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(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGCTGTGGAAGGATTTTCCAC	0.448000														196			28		0	0	0.0024448	0	0
IMPG1	3617	broad.mit.edu	37	6	76660470	76660470	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:76660470G>A	uc003pik.1	-	12	1763	c.1633C>T	c.(1633-1635)Cat>Tat	p.H545Y		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	545					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAAGAAATGATCTGGGACA	0.488000														50			9		0	0	0.000673444	0	0
RLN3	117579	broad.mit.edu	37	19	14139177	14139177	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:14139177G>A	uc002mxw.1	+	0	161	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	RLN3_uc010dzj.1_Missense_Mutation_p.R54Q	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	Homo sapiens relaxin 3 (RLN3), mRNA.	54						extracellular region	hormone activity			endometrium(1)|lung(4)	5						CGGTGGAGACGATCAGACATC	0.637000														68			10		0	0	0.000442599	0	0
CCDC105	126402	broad.mit.edu	37	19	15124559	15124559	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:15124559G>A	uc002nae.2	+	1	745	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	216					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AATGGAGAGAGATATGGAAAA	0.502000														21			4		0	0	0.00116845	0	0
METTL21C	196541	broad.mit.edu	37	13	103346730	103346731	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:103346730_103346731CC>TT	uc001vpj.3	-	0	124_125	c.118_119GG>AA	c.(118-120)gga>AAa	p.G40K		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	40							methyltransferase activity	p.G39G(1)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TTCTAGGACTCCCCCGGTGCTG	0.550000														45			6		0	0	6.4e-05	0	0
HUWE1	10075	broad.mit.edu	37	X	53674318	53674318	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:53674318G>A	uc004dsp.3	-	5	746	c.344C>T	c.(343-345)tCc>tTc	p.S115F		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	115					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACCTCTATGGAACTGTACAG	0.428000														12			16		0	0	0.000566183	0	0
FAM5C	339479	broad.mit.edu	37	1	190234128	190234128	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:190234128C>T	uc001gse.1	-	3	717	c.485G>A	c.(484-486)gGa>gAa	p.G162E	FAM5C_uc010pot.1_Missense_Mutation_p.G60E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	162						extracellular region		p.E161*(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGAATCACTTCCTTCAGCTCG	0.428000														63			11		0	0	0.00185496	0	0
ECM2	1842	broad.mit.edu	37	9	95272208	95272208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:95272208G>A	uc011lty.2	-	5	1466	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Nonsense_Mutation_p.Q405*|ECM2_uc004asg.3_Nonsense_Mutation_p.Q405*	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	427					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCGATAGCCTGAAGATTGTTC	0.289000														43			6		0	0	0.00116845	0	0
B4GALNT3	283358	broad.mit.edu	37	12	666915	666915	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:666915C>T	uc001qii.1	+	15	2522	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	B4GALNT3_uc001qik.1_Missense_Mutation_p.S390F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	841						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTGAAGAGGTCCAAGCTGCGG	0.577000														39			5		0	0	0.00307968	0	0
VPS13B	157680	broad.mit.edu	37	8	100871677	100871677	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:100871677G>A	uc003yiv.3	+	56	11199	c.11088G>A	c.(11086-11088)ggG>ggA	p.G3696G	VPS13B_uc003yiw.3_Silent_p.G3671G	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3696					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)			TCTCCAGAGGGACCACATCGT	0.522000														75			7		0	0	0.000673444	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23886508	23886508	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:23886508G>A	uc003gqs.3	-	1	221	c.101C>T	c.(100-102)cCt>cTt	p.P34L	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_5'Flank|PPARGC1A_uc010ier.1_Non-coding_Transcript|PPARGC1A_uc003gqu.4_Missense_Mutation_p.P34L	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	34					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATCAAGTTCAGGAAGATCTGG	0.423000														30			4		0	0	0.00024832	0	0
KIF18B	146909	broad.mit.edu	37	17	43009476	43009476	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:43009476G>A	uc010wji.2	-	9	1474	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	KIF18B_uc002iht.3_Missense_Mutation_p.S458F|KIF18B_uc010wjh.2_Missense_Mutation_p.S446F	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGGTCTGAAGAGTTCCCTTC	0.637000														32			6		0	0	0.00198382	0	0
ODF4	146852	broad.mit.edu	37	17	8243450	8243450	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:8243450G>A	uc002gle.1	+	0	263	c.81G>A	c.(79-81)agG>agA	p.R27R		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GAAAGGAAAGGAAGAGTGGGG	0.557000														57			10		0	0	0.000978159	0	0
CEP192	55125	broad.mit.edu	37	18	13056565	13056565	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:13056565T>A	uc010xac.2	+	18	4056	c.3976T>A	c.(3976-3978)Tct>Act	p.S1326T	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.S851T|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.S1067T	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	921										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGGGTACCTCTTCCCTCTG	0.468000														95			18		0	0	0.000566183	0	0
ARMC9	80210	broad.mit.edu	37	2	232156154	232156154	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:232156154C>T	uc002vrq.4	+	17	1827	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	ARMC9_uc002vrp.4_Missense_Mutation_p.S572F|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	572							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CAGCTAAATTCCGGTCAGTTT	0.408000														105			15		0	0	0.00316338	0	0
LSG1	55341	broad.mit.edu	37	3	194369449	194369450	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:194369449_194369450GG>AA	uc003fui.3	-	10	1818_1819	c.1503_1504CC>TT	c.(1501-1506)caccga>caTTga	p.R502*		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	502					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GTTGGAGGTCGGTGGGGATCTT	0.391000														71			25		0	0	6.4e-05	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634453	70634453	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:70634453G>A	uc001xly.3	-	1	1441	c.687C>T	c.(685-687)gtC>gtT	p.V229V	SLC8A3_uc001xlw.3_Silent_p.V229V|SLC8A3_uc001xlx.3_Silent_p.V229V|SLC8A3_uc001xlz.3_Silent_p.V229V|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	229					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)		CCCAAACCTGGACCACACCAG	0.493000														34			4		0	0	0.00116845	0	0
HACE1	57531	broad.mit.edu	37	6	105232044	105232044	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:105232044G>A	uc003pqu.1	-	13	1760	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.P495S|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.P148S	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	495					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATAATTTTGGGATTTCTAAAA	0.308000														56			5		0	0	0.000602214	0	0
IPO9	55705	broad.mit.edu	37	1	201825035	201825035	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:201825035C>T	uc001gwz.3	+	9	1145	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	365					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATTATATTATCCTGTACATGC	0.343000														77			10		0	0	0.00185496	0	0
WFS1	7466	broad.mit.edu	37	4	6303256	6303256	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:6303256C>T	uc003giy.3	+	7	1900	c.1734C>T	c.(1732-1734)gcC>gcT	p.A578A	WFS1_uc003gix.3_Silent_p.A578A|WFS1_uc003giz.3_Silent_p.A396A	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	578					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGGCCTGGCCCTGGTGGGCG	0.662000														421			59		0	0	0.00361006	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110030084	110030084	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:110030084C>T	uc010rwc.2	+	3	1020	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	ZC3H12C_uc009yxw.3_Silent_p.I339I|ZC3H12C_uc010rwd.2_Silent_p.I340I|ZC3H12C_uc001pkr.4_Silent_p.I308I|ZC3H12C_uc001pkq.2_Silent_p.I308I	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	339							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ACAGGTTCATCGTGAAGCTGG	0.468000														31			7		0	0	0.000274275	0	0
SPRR2A	6700	broad.mit.edu	37	1	153029007	153029007	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:153029007G>A	uc021ozr.1	-	0	205	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	SPRR2A_uc001fbf.3_Non-coding_Transcript|SPRR2A_uc001fbd.3_Missense_Mutation_p.P69S	NM_005988	NP_005979	P35326	SPR2A_HUMAN	Homo sapiens small proline-rich protein 2A (SPRR2A), mRNA.	69					keratinization	cornified envelope|cytoplasm	binding			large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGCTCTTCGGTGGATACTTT	0.512000														204			24		0	0	0.00395357	0	0
ANO3	63982	broad.mit.edu	37	11	26660733	26660733	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:26660733G>A	uc001mqt.4	+	20	2231	c.2086G>A	c.(2086-2088)Ggt>Agt	p.G696S	ANO3_uc010rdr.2_Missense_Mutation_p.G680S|ANO3_uc010rds.2_Missense_Mutation_p.G535S|ANO3_uc010rdt.2_Missense_Mutation_p.G550S	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	696						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CCTCCAGATGGGTGTCATCAT	0.398000														39			6		0	0	0.00198382	0	0
TAF7	6879	broad.mit.edu	37	5	140699461	140699461	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140699461C>T	uc003ljg.3	-	0	891	c.151G>A	c.(151-153)Ggg>Agg	p.G51R		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	51					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGACGCCCATCAGGATGT	0.458000														87			13		0	0	0.00185496	0	0
TAOK2	9344	broad.mit.edu	37	16	29998717	29998717	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:29998717C>T	uc010bzm.2	+	14	3180	c.3145C>T	c.(3145-3147)Ccc>Tcc	p.P1049S	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.P929S|TAOK2_uc002dva.2_Missense_Mutation_p.P1042S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.P869S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1042	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.P1042S(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CATGGGTGTTCCCCTGGGCCT	0.687000														48			10		0	0	0.000673444	0	0
XIST	7503	broad.mit.edu	37	X	73067708	73067708	+	RNA	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:73067708G>A	uc004ebm.1	-	0		c.4881C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TAGTCCCAGGGAAAGGTAACA	0.383000														65			27		0	0	0.001512	0	0
MUC16	94025	broad.mit.edu	37	19	9072723	9072723	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9072723G>A	uc002mkp.3	-	2	14927	c.14723C>T	c.(14722-14724)tCg>tTg	p.S4908L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4910	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						CTCTGTGGACGAGGTGATCTC	0.493000														171			19		0	0	0.00074312	0	0
FAM129A	116496	broad.mit.edu	37	1	184764533	184764533	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:184764533G>A	uc001gra.3	-	13	2559	c.2365C>T	c.(2365-2367)Cca>Tca	p.P789S	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	789	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTACCTCTGGAAATCCCCCC	0.662000														213			25		0	0	0.000720815	0	0
MYH13	8735	broad.mit.edu	37	17	10258014	10258014	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10258014C>T	uc002gmk.1	-	10	1078	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	330	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.E330K(3)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCAGCAGTTCTTCACTGTCA	0.463000														114			12		0	0	0.00185496	0	0
SCN5A	6331	broad.mit.edu	37	3	38592248	38592248	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38592248T>C	uc021wvo.1	-	26	5667	c.5615A>G	c.(5614-5616)aAg>aGg	p.K1872R	SCN5A_uc021wvk.1_Missense_Mutation_p.K1839R|SCN5A_uc021wvl.1_Missense_Mutation_p.K1818R|SCN5A_uc021wvm.1_Missense_Mutation_p.K1854R|SCN5A_uc021wvn.1_Missense_Mutation_p.K1871R|SCN5A_uc021wvp.1_Missense_Mutation_p.K1872R|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.K1684R|SCN5A_uc021wvi.1_Missense_Mutation_p.K1738R	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1872					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)	CATCTGGATCTTCAGGGCGTC	0.587000														157			8		0	0	0.000274275	0	0
ST18	9705	broad.mit.edu	37	8	53085075	53085075	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:53085075C>T	uc003xqz.2	-	4	502	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E81K|ST18_uc011lds.1_Missense_Mutation_p.E21K|ST18_uc003xra.2_Missense_Mutation_p.E116K|ST18_uc003xrb.2_Missense_Mutation_p.E116K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	116						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)				TATCTGTCTTCCTTCCTACTG	0.343000														44			7		0	0	0.00198382	0	0
TCN1	6947	broad.mit.edu	37	11	59622251	59622251	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:59622251G>A	uc001noj.2	-	6	1093	c.995C>T	c.(994-996)tCa>tTa	p.S332L		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	332					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGATATATGATTGTGAGTC	0.413000														56			10		0	0	0.000673444	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659250	121659250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:121659250C>T	uc003eep.2	+	20	2081	c.1928C>T	c.(1927-1929)tCt>tTt	p.S643F	SLC15A2_uc011bjn.1_Missense_Mutation_p.S612F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	643					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.S643F(2)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AGCATGAAATCTGTGCTCCAG	0.507000														100			7		0	0	0.00307968	0	0
CDH12	1010	broad.mit.edu	37	5	22078746	22078746	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:22078746G>A	uc010iuc.2	-	1	498	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	CDH12_uc011cno.1_Silent_p.L14L|CDH12_uc003jgk.2_Silent_p.L14L	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	14					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L14M(2)|p.L14L(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCATCAAACAGAACCCAGAGA	0.453000										HNSCC(59;0.17)				99			10		0	0	0.000978159	0	0
TEX15	56154	broad.mit.edu	37	8	30702531	30702531	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:30702531G>A	uc003xil.3	-	0	4003	c.4003C>T	c.(4003-4005)Cct>Tct	p.P1335S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1335										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GATAACTGAGGAATACTGTAC	0.383000														102			16		0	0	0.00074312	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1779144	1779144	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:1779144C>T	uc010uvl.2	+	2	565	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	MAPK8IP3_uc002cmi.1_Missense_Mutation_p.R149W|MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R149W|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R149W|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R149W	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	149					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCAGTTTCCCGGTTGGAGGA	0.592000														125			30		0	0	0.00111076	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128994424	128994424	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:128994424G>A	uc003kvb.1	+	14	2401	c.2401G>A	c.(2401-2403)Gga>Aga	p.G801R	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	801	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCACACCAGAGGAGCAGGTAA	0.318000														74			7		0	0	0.000274275	0	0
NUP133	55746	broad.mit.edu	37	1	229623326	229623326	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:229623326G>A	uc001htn.3	-	9	1321	c.1229C>T	c.(1228-1230)cCa>cTa	p.P410L		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	410					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGAAAAGTTTGGGACCGTCAA	0.348000														97			9		0	0	0.000673444	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183029	167183029	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:167183029C>T	uc003fes.1	-	4	932	c.861G>A	c.(859-861)gaG>gaA	p.E287E	SERPINI2_uc003fer.1_Silent_p.E277E|SERPINI2_uc003fet.1_Silent_p.E277E	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	277					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTTCTTGCATCTCAGAGAGCC	0.358000														105			28		0	0	0.00127121	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138174	126138174	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:126138174G>A	uc001uhe.1	+	8	2163	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D231N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	719						integral to membrane		p.Y718H(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGACATTTACGATCCTAAGGA	0.403000														123			10		0	0	0.000978159	0	0
COX4NB	10328	broad.mit.edu	37	16	85814035	85814035	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:85814035G>A	uc002fjd.3	-	3	670	c.423C>T	c.(421-423)atC>atT	p.I141I	COX4NB_uc010vol.2_Intron	NM_006067	NP_006058	O43402	CX4NB_HUMAN	Homo sapiens COX4 neighbor (COX4NB), transcript variant 1, mRNA.	141						mitochondrion|nucleus				large_intestine(1)|upper_aerodigestive_tract(1)	2						CGTACACGTGGATCGTAGGCG	0.607000														45			7		0	0	0.000274275	0	0
CHD5	26038	broad.mit.edu	37	1	6206398	6206398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:6206398C>T	uc001amb.2	-	10	1787	c.1676G>A	c.(1675-1677)gGg>gAg	p.G559E	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	559					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTCTTCATCCCCAGAGCCGTA	0.557000														59			20		0	0	0.00229938	0	0
XKR3	150165	broad.mit.edu	37	22	17288683	17288683	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:17288683C>T	uc002zlv.3	-	1	379	c.281G>A	c.(280-282)aGa>aAa	p.R94K	XKR3_uc011agf.2_Missense_Mutation_p.R94K	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	94						integral to membrane|plasma membrane		p.R94I(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCCTTATTTCTCCTCAAGTC	0.358000														76			7		0	0	0.000274275	0	0
ATP2B4	493	broad.mit.edu	37	1	203689718	203689718	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:203689718C>T	uc001gzw.3	+	15	3345	c.2448C>T	c.(2446-2448)atC>atT	p.I816I	ATP2B4_uc001gzv.3_Silent_p.I816I|ATP2B4_uc009xaq.3_Silent_p.I816I|ATP2B4_uc001gzx.3_5'Flank|ATP2B4_uc009xar.3_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	816					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCAGACATCATCCTAACAG	0.507000														42			10		0	0	0.00136819	0	0
CEP97	79598	broad.mit.edu	37	3	101483907	101483907	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:101483907C>T	uc003dvk.1	+	10	2137	c.2110C>T	c.(2110-2112)Cat>Tat	p.H704Y	CEP97_uc011bhf.1_Missense_Mutation_p.H645Y|CEP97_uc003dvl.1_Missense_Mutation_p.H426Y|CEP97_uc003dvm.1_Missense_Mutation_p.H542Y	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	704	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCTGGTTTTCATTCCTCTCT	0.398000														97			7		0	0	0.00307968	0	0
DNAH2	146754	broad.mit.edu	37	17	7684361	7684361	+	Splice_Site	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:7684361T>C	uc002giu.1	+	38	6018	c.6004_splice	c.e38-1	p.V2002_splice		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2002					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)				CCCATTCAGGTTCTGCTGCTC	0.512000														167			15		0	0	0.00400662	0	0
C6orf48	50854	broad.mit.edu	37	6	31807420	31807420	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:31807420G>T	uc003rjx.2	+	4	721	c.208G>T	c.(208-210)Gga>Tga	p.G70*	C6orf48_uc003rjy.2_Nonsense_Mutation_p.G70*|C6orf48_uc003rjz.2_Nonsense_Mutation_p.G70*	NM_001040437	NP_001035528	Q9UBA6	G8_HUMAN	Homo sapiens chromosome 6 open reading frame 48 (C6orf48), transcript variant 1, mRNA.	70										breast(1)|large_intestine(1)|lung(1)|skin(1)	4						CCTTATTGGGGGAAAAATGCC	0.373000														456			67		1.74474e-33	5.16922e-33	0.00361006	1	0
LLGL2	3993	broad.mit.edu	37	17	73567141	73567141	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:73567141C>T	uc002joh.3	+	16	2290	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	LLGL2_uc002joi.3_Silent_p.F712F|LLGL2_uc010dgg.2_Silent_p.F712F|LLGL2_uc002joj.3_Silent_p.F701F|LLGL2_uc010wsd.2_Silent_p.F339F	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	712					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCACAGGCTTCGTCCGGACCC	0.652000														126			28		0	0	0.00178596	0	0
PTK7	5754	broad.mit.edu	37	6	43109528	43109528	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:43109528C>T	uc011dve.1	+	10	1807	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	PTK7_uc003oub.1_Missense_Mutation_p.R581C|PTK7_uc003ouc.1_Missense_Mutation_p.R581C|PTK7_uc003oud.1_Missense_Mutation_p.R541C|PTK7_uc003oue.1_Missense_Mutation_p.R451C|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	581	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCCAGATTCGTGCCCATGT	0.657000														145			12		0	0	0.00244969	0	0
LMOD1	25802	broad.mit.edu	37	1	201869306	201869306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:201869306C>T	uc021phl.1	-	1	1083	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	LMOD1_uc021phm.1_Missense_Mutation_p.E279K|LMOD1_uc010ppu.2_Missense_Mutation_p.E228K	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	279	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTCCTTTTCATGTAAGGGT	0.493000														45			6		0	0	0.00116845	0	0
MAFA	389692	broad.mit.edu	37	8	144511677	144511677	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:144511677C>T	uc003yyc.2	-	0	926	c.900G>A	c.(898-900)gtG>gtA	p.V300V		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) (MAFA), mRNA.	300	Leucine-zipper.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CCAGGCGCCCCACCTCCAGCT	0.692000										HNSCC(29;0.082)				35			5		0	0	0.00116845	0	0
CDH6	1004	broad.mit.edu	37	5	31317792	31317792	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:31317792G>A	uc003jhe.2	+	10	2003	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E	CDH6_uc003jhd.2_Missense_Mutation_p.G548E	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	548	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACACGGCGGGAATCTTAACT	0.418000														73			7		0	0	0.000673444	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673169	141673169	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:141673169G>A	uc003vwx.1	-	0	405	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	107					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGCAAGCCAGAGGTTGGCTT	0.517000														89			9		0	0	0.000978159	0	0
ZNF536	9745	broad.mit.edu	37	19	30936037	30936037	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:30936037C>T	uc002nsu.1	+	1	1706	c.1568C>T	c.(1567-1569)gCt>gTt	p.A523V	ZNF536_uc010edd.1_Missense_Mutation_p.A523V	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	523					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)					AGCTACCAGGCTTGGCAGCTC	0.617000														100			9		0	0	0.000442599	0	0
SNRPN	6638	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:25442574G>A	uc001yzf.1	+	5		c.569G>A			SNRPN_uc001yzk.1_5'Flank|SNRPN_uc010ayo.1_5'Flank|SNORD115-16_uc001yzm.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTGGCCCCGGGAAAATGTCCC	0.602000									Prader-Willi syndrome					10			3		0	0	6.4e-05	0	0
RNF17	56163	broad.mit.edu	37	13	25338447	25338447	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:25338447G>A	uc001upr.3	+	0	147	c.106G>A	c.(106-108)Gga>Aga	p.G36R	RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Missense_Mutation_p.G36R|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Intron|RNF17_uc001upq.1_Missense_Mutation_p.G36R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	36					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CACCAGGTGTGGAAGGAGGGT	0.652000														21			6		0	0	0.00116845	0	0
EPHA7	2045	broad.mit.edu	37	6	93967960	93967960	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:93967960C>T	uc003poe.3	-	10	2208	c.1967G>A	c.(1966-1968)gGg>gAg	p.G656E	EPHA7_uc003pof.3_Missense_Mutation_p.G651E|EPHA7_uc011eac.2_Missense_Mutation_p.G652E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	656	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G656W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCTCTTTTCCCTGGAAGTTT	0.383000														85			8		0	0	0.00307968	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499593	104499593	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:104499593G>A	uc004bbp.2	-	0	1270	c.669C>T	c.(667-669)atC>atT	p.I223I	GRIN3A_uc004bbq.1_Silent_p.I223I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	223					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CGTGGCGCACGATGCTGATCA	0.632000														43			5		0	0	0.00198382	0	0
ZNF586	54807	broad.mit.edu	37	19	58290215	58290215	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:58290215C>T	uc002qqd.3	+	2	451	c.260C>T	c.(259-261)cCt>cTt	p.P87L	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Missense_Mutation_p.P44L|ZNF586_uc002qqe.3_Missense_Mutation_p.L45F|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGAAAGGCCTTATGAGTGT	0.453000														80			13		0	0	0.00185496	0	0
KRT34	3885	broad.mit.edu	37	17	39537398	39537398	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:39537398C>T	uc002hwm.3	-	2	636	c.624G>A	c.(622-624)ctG>ctA	p.L208L		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	208	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCAGCTCATCCAGGATCCTGC	0.557000														76			6		0	0	0.00116845	0	0
GADL1	339896	broad.mit.edu	37	3	30891538	30891538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:30891538C>T	uc003cep.2	-	5	648	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	GADL1_uc003ceq.1_Missense_Mutation_p.E201K	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	201					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGCCCCTTTTCCTTAATATCA	0.323000														46			5		0	0	0.00116845	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166015	67166015	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:67166015G>A	uc001okw.1	-	6	1107	c.984C>T	c.(982-984)gcC>gcT	p.A328A	PPP1CA_uc001oku.1_Silent_p.A339A|PPP1CA_uc001okv.1_Silent_p.A284A|PPP1CA_uc001okx.1_Silent_p.A416A	NM_002708	NP_002699	P62136	PP1A_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, alpha isozyme (PPP1CA), transcript variant 1, mRNA.	328					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cytosol|nucleolus	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCTATTTCTTGGCTTTGGCGG	0.612000														50			6		0	0	0.00116845	0	0
ESRP1	54845	broad.mit.edu	37	8	95705053	95705053	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:95705053C>A	uc003ygq.4	+	13	2152	c.1969C>A	c.(1969-1971)Cag>Aag	p.Q657K	ESRP1_uc003ygr.4_Missense_Mutation_p.Q653K|ESRP1_uc003ygs.4_Missense_Mutation_p.Q653K|ESRP1_uc003ygt.4_Intron|ESRP1_uc003ygu.4_Intron|ESRP1_uc003ygv.3_Missense_Mutation_p.Q497K|ESRP1_uc003ygw.3_Intron	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	657					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CCAAGGTTACCAGGTCAGTAG	0.453000														314			12		0.00136819	0.00401022	0.00136819	1	0
SUPT6H	6830	broad.mit.edu	37	17	27024697	27024697	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:27024697C>T	uc010crt.3	+	31	4461	c.4269C>T	c.(4267-4269)gcC>gcT	p.A1423A	SUPT6H_uc002hby.3_Silent_p.A1423A	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1423	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCCTTTGCCCGGGACCTTC	0.517000														65			11		0	0	0.000978159	0	0
CR2	1380	broad.mit.edu	37	1	207641876	207641876	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:207641876C>T	uc001hfw.3	+	2	569	c.450C>T	c.(448-450)ttC>ttT	p.F150F	CR2_uc001hfv.3_Silent_p.F150F|CR2_uc009xch.3_Silent_p.F150F|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	150					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTAAAGTTTTCCCTCTCGAGT	0.463000														33			15		0	0	0.00074312	0	0
SLC22A14	9389	broad.mit.edu	37	3	38354523	38354523	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38354523G>A	uc003cib.2	+	4	1051	c.978G>A	c.(976-978)atG>atA	p.M326I	SLC22A14_uc010hhc.1_Missense_Mutation_p.M326I|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	326						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)		GGCTGATGATGAAAGGGAAGG	0.577000														15			4		0	0	0.00024832	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39156007	39156007	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:39156007G>A	uc002hvs.3	-	0	132	c.99C>T	c.(97-99)ccC>ccT	p.P33P		NM_031959	NP_114165	Q9BYR7	KRA32_HUMAN	Homo sapiens keratin associated protein 3-2 (KRTAP3-2), mRNA.	33	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				GGCAGGTGCTGGGCAGGCAGA	0.627000														74			14		0	0	0.00244969	0	0
CNTN2	6900	broad.mit.edu	37	1	205034331	205034331	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:205034331C>T	uc001hbr.3	+	12	1905	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	CNTN2_uc001hbq.1_Silent_p.L437L|CNTN2_uc001hbs.3_Silent_p.L334L	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	546	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTGGACCCTGGACGACTT	0.587000														150			13		0	0	0.000958276	0	0
OR7C2	26658	broad.mit.edu	37	19	15052342	15052342	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:15052342C>T	uc010xoc.2	+	0	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ACTTTCTCCTCCTGGGATTCG	0.493000														77			15		0	0	0.00244969	0	0
WDR11	55717	broad.mit.edu	37	10	122612140	122612140	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:122612140T>C	uc021pzt.1	+	1	437	c.191T>C	c.(190-192)gTt>gCt	p.V64A	LOC283089_uc001lfb.1_5'Flank|WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	64						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAAGCTGATGTTGTAAAGGTA	0.353000														33			9		0	0	0.000442599	0	0
KIAA1609	57707	broad.mit.edu	37	16	84520567	84520567	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:84520567G>A	uc002fib.3	-	4	735	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	KIAA1609_uc010vod.2_Silent_p.L183L	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	210							protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						ACCACACTCAGGAATATGGCC	0.562000														56			8		0	0	0.00307968	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	G	G	rs10796418	by1000genomes	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000														34			6		0	0	0.00198382	0	0
PTPRE	5791	broad.mit.edu	37	10	129881150	129881150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:129881150G>A	uc009yat.3	+	21	2533	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	PTPRE_uc001lkb.3_Missense_Mutation_p.D695N|PTPRE_uc009yau.2_Missense_Mutation_p.D695N|PTPRE_uc001lkd.3_Missense_Mutation_p.D637N|PTPRE_uc010quq.1_Silent_p.L550L	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	695					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TATATTTTCTGATTATGCTAA	0.249000														57			11		0	0	0.000978159	0	0
ENAH	55740	broad.mit.edu	37	1	225718287	225718287	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:225718287G>A	uc001hpc.1	-	3	856	c.403C>T	c.(403-405)Cca>Tca	p.P135S	ENAH_uc021pju.1_Missense_Mutation_p.P122S|ENAH_uc001hpd.1_Missense_Mutation_p.P135S	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	135					T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TCTTGGGATGGGCCATTTTGA	0.353000														149			12		0	0	0.00316338	0	0
DRD5	1816	broad.mit.edu	37	4	9784955	9784955	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:9784955C>T	uc003gmb.4	+	0	1698	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	434					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)	AGGGTCCTTTCGATCGCATGT	0.557000														69			9		0	0	0.000274275	0	0
RYR2	6262	broad.mit.edu	37	1	237780696	237780696	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:237780696C>T	uc001hyl.1	+	37	5946	c.5826C>T	c.(5824-5826)ttC>ttT	p.F1942F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1942	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)			ATCAACGTTTCCGATACAACG	0.463000														69			11		0	0	0.00136819	0	0
ZNF536	9745	broad.mit.edu	37	19	31039268	31039268	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:31039268C>T	uc002nsu.1	+	3	2880	c.2742C>T	c.(2740-2742)ttC>ttT	p.F914F	ZNF536_uc010edd.1_Silent_p.F914F	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F914F(2)		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)					GTGTGAATTTCCAAGGGTCCT	0.493000														217			28		0	0	0.001512	0	0
RXFP2	122042	broad.mit.edu	37	13	32355829	32355829	+	Silent	SNP	A	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:32355829A>T	uc001utt.3	+	9	878	c.807A>T	c.(805-807)atA>atT	p.I269I	RXFP2_uc010aba.3_Silent_p.I269I	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	269						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCAATAGAATAAAGTATCTCA	0.338000														43			5		0	0	0.000602214	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010765	73010765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:73010765G>A	uc003tyn.1	-	11	1915	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S	MLXIPL_uc003tyj.1_Missense_Mutation_p.P4S|MLXIPL_uc003tyk.1_Missense_Mutation_p.P623S|MLXIPL_uc003tym.1_Missense_Mutation_p.P623S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P623S|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.P529S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	623					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGAGTCCCAGGGCCTGGCATG	0.657000														61			10		0	0	0.000978159	0	0
INSRR	3645	broad.mit.edu	37	1	156814413	156814414	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:156814413_156814414CC>TT	uc010pht.2	-	13	2876_2877	c.2577_2578GG>AA	c.(2575-2580)gaggcc>gaAAcc	p.A860T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	860	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCACTGTGGCCTCCTGAGAGT	0.629000														35			10		0	0	6.4e-05	0	0
MUC17	140453	broad.mit.edu	37	7	100685859	100685859	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:100685859C>T	uc003uxp.1	+	2	11215	c.11162C>T	c.(11161-11163)aCc>aTc	p.T3721I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3721	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)					TCTGTTGTCACCAGCACACCT	0.498000														133			24		0	0	0.000878237	0	0
PPARD	5467	broad.mit.edu	37	6	35392547	35392547	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:35392547C>T	uc003okn.3	+	7	1474	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	PPARD_uc003okl.3_Silent_p.L357L|PPARD_uc011dtb.2_Silent_p.L318L|PPARD_uc011dtc.2_Silent_p.L259L|PPARD_uc003okm.3_Silent_p.L357L	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	357	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGCCATCATTCTGTGTGGAGG	0.557000														51			5		0	0	0.00116845	0	0
KDM2B	84678	broad.mit.edu	37	12	122012474	122012474	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:122012474G>A	uc001uat.3	-	3	479	c.375C>T	c.(373-375)gtC>gtT	p.V125V	KDM2B_uc001uas.3_Silent_p.V94V|KDM2B_uc021rfd.1_Silent_p.V94V|KDM2B_uc001uau.3_Silent_p.V8V|KDM2B_uc021rfe.1_Silent_p.V125V|KDM2B_uc001uav.4_Silent_p.V125V	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	125					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGACGTCTCGGACTGTGAAAT	0.567000														76			7		0	0	0.000274275	0	0
SI	6476	broad.mit.edu	37	3	164704953	164704953	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:164704953G>A	uc003fei.3	-	44	5233	c.5170C>T	c.(5170-5172)Ctg>Ttg	p.L1724L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1724	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCCAAAACAGAGAACCCTGT	0.333000										HNSCC(35;0.089)				115			7		0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179440844	179440844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179440844C>T	uc021vsy.1	-	274	62536	c.62311G>A	c.(62311-62313)Gag>Aag	p.E20771K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E14466K|TTN_uc021vta.1_Missense_Mutation_p.E14399K|TTN_uc021vtb.1_Missense_Mutation_p.E14274K|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21698	Fibronectin type-III 50.						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)			GGAGCCATCTCCCGTTCTACG	0.443000														70			10		0	0	0.000442599	0	0
BTBD11	121551	broad.mit.edu	37	12	108011150	108011150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:108011150G>A	uc001tmk.1	+	8	2689	c.2168G>A	c.(2167-2169)gGa>gAa	p.G723E	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.G723E|BTBD11_uc001tml.1_Missense_Mutation_p.G260E	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	723						integral to membrane	DNA binding	p.G723R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TACAGGAATGGAATTTCTACA	0.532000														94			18		0	0	0.000566183	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757027	56757027	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:56757027C>T	uc010rjp.2	+	0	639	c.639C>T	c.(637-639)gtC>gtT	p.V213V		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTGGGTTGGTCGTCATCTTTT	0.433000														130			16		0	0	0.000566183	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531337	140531337	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140531337C>T	uc003lir.3	+	0	1499	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	500	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCTCTTCCCTGGTCTCC	0.652000														150			23		0	0	0.001512	0	0
SYPL1	6856	broad.mit.edu	37	7	105732265	105732265	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:105732265G>A	uc003vdp.3	-	5	848	c.766C>T	c.(766-768)Cct>Tct	p.P256S	SYPL1_uc003vdo.3_Missense_Mutation_p.P238S	NM_006754	NP_874384	Q16563	SYPL1_HUMAN	Homo sapiens synaptophysin-like 1 (SYPL1), transcript variant 1, mRNA.	256					synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ATTCCGGTAGGAGGTGGAATA	0.408000														62			6		0	0	0.000274275	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919144	12919144	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:12919144C>T	uc001aum.1	+	1	367	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	94										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)		ACAGAAGGATCGCCCCAGGTG	0.552000														200			46		0	0	0.00361006	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231754	142231754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:142231754G>A	uc003vyh.2	-	1	261	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGTCTTGTCGATACCAGAAC	0.488000														172			21		0	0	0.00229938	0	0
TM6SF1	53346	broad.mit.edu	37	15	83805341	83805341	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:83805341G>A	uc002bjp.3	+	9	1139	c.1030G>A	c.(1030-1032)Gtt>Att	p.V344I	TM6SF1_uc010bmq.3_Missense_Mutation_p.V313I|TM6SF1_uc002bjq.3_3'UTR|TM6SF1_uc010bmr.3_Non-coding_Transcript|TM6SF1_uc002bjr.3_Missense_Mutation_p.V196I	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	344						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGCATATGGAGTTCTTCCTCA	0.358000														152			14		0	0	0.00400662	0	0
CLCN1	1180	broad.mit.edu	37	7	143029525	143029525	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:143029525C>T	uc003wcr.1	+	10	1267	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	CLCN1_uc011ktc.1_Missense_Mutation_p.P56S	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	394					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCTGCTGTATCCTGGAATTGT	0.468000														93			14		0	0	0.00400662	0	0
GPR63	81491	broad.mit.edu	37	6	97247113	97247113	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:97247113C>T	uc010kcl.3	-	2	973	c.495G>A	c.(493-495)gtG>gtA	p.V165V	GPR63_uc003pou.3_Silent_p.V165V|GPR63_uc021zcy.1_Silent_p.V165V	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	165						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CTCCTTCTATCACAAATAACC	0.408000														73			6		0	0	0.00307968	0	0
TMEM17	200728	broad.mit.edu	37	2	62728490	62728490	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:62728490G>A	uc002sbt.2	-	3	791	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F	TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	Homo sapiens transmembrane protein 17 (TMEM17), mRNA.	151						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			TGGAAAGCAAGGAAGAGAGTG	0.403000														89			11		0	0	0.000673444	0	0
ATP10B	23120	broad.mit.edu	37	5	160114835	160114835	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:160114835G>A	uc003lym.1	-	4	1094	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	ATP10B_uc003lyp.2_Missense_Mutation_p.P83S|ATP10B_uc011deg.1_Missense_Mutation_p.P127S|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	83					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATTCCGGGGCAGGAAGGTG	0.463000														111			7		0	0	0.000274275	0	0
ANP32C	23520	broad.mit.edu	37	4	165118195	165118195	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:165118195C>T	uc011cjk.2	-	0	669	c.669G>A	c.(667-669)gaG>gaA	p.E223E	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	223	Asp/Glu-rich (highly acidic).									NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		cttcaccaagctcttcttcat	0.448000														33			6		0	0	0.00307968	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:37780794G>A	uc003tfm.1	+	0	799	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	267						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N266K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTTATAACGAAATCTTCTT	0.383000														73			11		0	0	0.00136819	0	0
OR5K1	26339	broad.mit.edu	37	3	98188932	98188932	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:98188932C>T	uc003dsm.3	+	0	512	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171L(2)|p.G170A(1)|p.S171T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398000														73			26		0	0	0.00106085	0	0
CCDC92	80212	broad.mit.edu	37	12	124421898	124421898	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:124421898C>T	uc001ufw.1	-	4	850	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	CCDC92_uc001ufv.1_Missense_Mutation_p.E218K|CCDC92_uc001ufx.1_Missense_Mutation_p.E235K	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	235										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCCACTGGTTCCCGCAAAAGG	0.602000														75			7		0	0	0.00307968	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815703	179815703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:179815703C>T	uc001gnl.3	-	6	1730	c.916G>A	c.(916-918)Gag>Aag	p.E306K	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.E306K	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	306						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TTCAGGGTCTCTCTTCCCTCC	0.552000														172			15		0	0	0.000958276	0	0
DBX2	440097	broad.mit.edu	37	12	45410180	45410180	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:45410180G>A	uc001rok.1	-	3	1081	c.909C>T	c.(907-909)atC>atT	p.I303I		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	303						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AACTCTCCTGGATTAGTCTTT	0.483000														33			10		0	0	0.000673444	0	0
KAT7	11143	broad.mit.edu	37	17	47895285	47895285	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:47895285C>T	uc002ipm.3	+	8	1283	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	KAT7_uc002ipl.2_Missense_Mutation_p.P326L|KAT7_uc010wma.2_Missense_Mutation_p.P217L|KAT7_uc010wmb.2_Missense_Mutation_p.P246L|KAT7_uc010wmc.2_Missense_Mutation_p.P187L|KAT7_uc010wmd.2_Missense_Mutation_p.P200L|KAT7_uc010wme.2_Missense_Mutation_p.P170L|KAT7_uc010wmf.2_Missense_Mutation_p.P21L|KAT7_uc010wmg.2_Intron	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	356					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TCTCCATATCCTGAAGAATAT	0.428000														85			6		0	0	0.00116845	0	0
HGD	3081	broad.mit.edu	37	3	120352111	120352111	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:120352111G>A	uc003edw.3	-	12	1531	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	HGD_uc003edv.3_Silent_p.F216F	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	357					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCCCTGGCAGGAACCCACCTT	0.522000														152			10		0	0	0.00136819	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000375	41000375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:41000375C>T	uc003jmj.4	-	38	4919	c.4429G>A	c.(4429-4431)Gat>Aat	p.D1477N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D1032N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1477							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGATCCTGATCAAGGAGACGG	0.502000														55			12		0	0	0.00136819	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558339	106558339	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:106558339G>A	uc009yxn.1	-	8	2618	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L	GUCY1A2_uc001pjg.1_Missense_Mutation_p.S712L|GUCY1A2_uc010rvo.1_Missense_Mutation_p.S733L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	712					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S712L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TATTCTCGACGAAGAAAGAGA	0.478000														100			13		0	0	0.00244969	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951492	30951492	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:30951492C>T	uc003aig.1	-	3	860	c.720G>A	c.(718-720)ctG>ctA	p.L240L	GAL3ST1_uc003aih.1_Silent_p.L240L|GAL3ST1_uc003aii.1_Silent_p.L240L|GAL3ST1_uc010gvz.1_Silent_p.L240L	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	240					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCTCCACCTCCAGGATGTGCT	0.612000														91			9		0	0	0.000274275	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777753	43777753	+	Nonsense_Mutation	SNP	G	A	A	rs144064003	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:43777753G>A	uc010skx.2	-	29	4480	c.4480C>T	c.(4480-4482)Cag>Tag	p.Q1494*		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1494	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCCTCTGCTGAACTCCAGAG	0.448000														22			4		0	0	0.000602214	0	0
LRG1	116844	broad.mit.edu	37	19	4538663	4538663	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:4538663G>A	uc002mau.3	-	1	344	c.333C>T	c.(331-333)ttC>ttT	p.F111F	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	111						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCCGCAGGAATTCGGGCG	0.652000														53			5		0	0	0.00116845	0	0
LOC440040	440040	broad.mit.edu	37	11	49598204	49598204	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:49598204C>T	uc010rhy.2	+	1	795	c.317C>T	c.(316-318)tCc>tTc	p.S106F	LOC440040_uc009ymb.3_Missense_Mutation_p.S106F					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TCCTCCTCTTCCTTCTGCTCC	0.512000														28			4		0	0	0.00116845	0	0
TRPC4	7223	broad.mit.edu	37	13	38211475	38211475	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:38211475C>T	uc010abx.3	-	10	2749	c.2514G>A	c.(2512-2514)caG>caA	p.Q838Q	TRPC4_uc010abv.3_Silent_p.Q413Q|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Silent_p.Q833Q|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Silent_p.Q660Q|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	833	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCACTTTTCTCTGCTTCTCCC	0.443000														32			5		0	0	0.000602214	0	0
SLC36A4	120103	broad.mit.edu	37	11	92881928	92881928	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:92881928G>A	uc001pdn.3	-	10	1387	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	AK093898_uc001pdl.1_5'Flank|SLC36A4_uc001pdm.3_Silent_p.I295I	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	430					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAGGTGGCAGGATTAGGGCCA	0.393000														149			15		0	0	0.00400662	0	0
DNHD1	144132	broad.mit.edu	37	11	6519580	6519580	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:6519580C>T	uc001mdw.4	+	2	699	c.135C>T	c.(133-135)ttC>ttT	p.F45F	DNHD1_uc001mdp.3_Silent_p.F45F	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	45					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGAGGCAGTTCGTGAAGCCAG	0.532000														168			24		0	0	0.00106085	0	0
POF1B	79983	broad.mit.edu	37	X	84614582	84614582	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:84614582C>T	uc004eer.2	-	3	557	c.411G>A	c.(409-411)agG>agA	p.R137R	POF1B_uc004ees.3_Silent_p.R137R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	137							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTACATATTTCCTAATAGTGG	0.308000														17			6		0	0	0.00307968	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683447	71683447	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:71683447C>T	uc002fax.3	-	17	3324	c.3318G>A	c.(3316-3318)ctG>ctA	p.L1106L	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Silent_p.L1039L|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1106						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGGCAGTGTCCAGGCCCCCAG	0.597000														55			8		0	0	0.00307968	0	0
OR6C75	390323	broad.mit.edu	37	12	55759573	55759573	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:55759573C>T	uc010spk.2	+	0	679	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TCTGAAAATTCCTTCTATGAG	0.383000														65			10		0	0	0.000673444	0	0
FCGBP	8857	broad.mit.edu	37	19	40362898	40362898	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:40362898C>T	uc002omp.4	-	31	15180	c.15172G>A	c.(15172-15174)Ggc>Agc	p.G5058S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5058	VWFD 12.					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)			GCGAAGGGGCCCTGGGGGTTC	0.652000														138			6		0	0	0.00307968	0	0
STAP2	55620	broad.mit.edu	37	19	4333715	4333715	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:4333715G>A	uc002mab.3	-	2	464	c.273C>T	c.(271-273)ctC>ctT	p.L91L	STAP2_uc002mac.3_Silent_p.L91L|STAP2_uc021unb.1_Silent_p.L91L|STAP2_uc021unc.1_Silent_p.L91L|STAP2_uc002mad.3_5'UTR	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	91	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGATCCCGGAGAATCAGGC	0.552000														46			6		0	0	0.00116845	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131706	82131706	+	Missense_Mutation	SNP	G	A	A	rs147477064		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:82131706G>A	uc002fgv.3	+	4	1001	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	277					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGACAAGTGGGAAAAGCTGGA	0.537000														55			12		0	0	0.00136819	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183361	167183361	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:167183361G>A	uc003fes.1	-	3	680	c.609C>T	c.(607-609)ttC>ttT	p.F203F	SERPINI2_uc003fer.1_Silent_p.F193F|SERPINI2_uc003fet.1_Silent_p.F193F	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	193					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCTCTTTTCTGAATTTCTGTT	0.358000														37			7		0	0	0.00198382	0	0
NSUN4	387338	broad.mit.edu	37	1	46810568	46810568	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:46810568C>T	uc001cpr.1	+	1	298	c.189C>T	c.(187-189)atC>atT	p.I63I	NSUN4_uc010omc.1_Silent_p.I14I|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Silent_p.I14I|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	63							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGCCATCAATCCGTGTCAGTC	0.493000														108			48		0	0	0.00361006	0	0
NAGPA	51172	broad.mit.edu	37	16	5075593	5075593	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:5075593C>G	uc002cyg.3	-	9	1461	c.1434G>C	c.(1432-1434)agG>agC	p.R478S	NAGPA_uc010buc.3_Missense_Mutation_p.R175S|NAGPA_uc002cyh.3_Non-coding_Transcript	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA.	478					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGCGCCGGTTCCTCTCTGCTC	0.652000														69			10		0	0	0.000442599	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456054	5456054	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:5456054C>T	uc002mca.4	+	0	629	c.552C>T	c.(550-552)atC>atT	p.I184I		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	184	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGGCGGCCATCGTGCACAACG	0.657000														63			10		0	0	0.000442599	0	0
PRDM9	56979	broad.mit.edu	37	5	23523411	23523411	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:23523411G>A	uc003jgo.3	+	8	1076	c.894G>A	c.(892-894)ggG>ggA	p.G298G		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	298	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.K297*(1)		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						TCACCAAGGGGAGAAACTGCT	0.438000										HNSCC(3;0.000094)				95			15		0	0	0.000566183	0	0
DNAH7	56171	broad.mit.edu	37	2	196619143	196619143	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:196619143C>T	uc002utj.4	-	62	11783	c.11682G>A	c.(11680-11682)agG>agA	p.R3894R	DNAH7_uc002uti.4_Silent_p.R377R	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3894					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						TTGTGTATTTCCTGGCGTAGT	0.478000														61			9		0	0	0.000274275	0	0
TRPC7	57113	broad.mit.edu	37	5	135692530	135692530	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:135692530G>A	uc003lbn.2	-	1	768	c.546C>T	c.(544-546)atC>atT	p.I182I	TRPC7_uc010jef.2_Silent_p.I173I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I182I|TRPC7_uc010jei.2_Silent_p.I182I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	182					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAGCAGCAGGATGTGCACGA	0.607000														172			10		0	0	0.00244969	0	0
MTMR7	9108	broad.mit.edu	37	8	17163275	17163275	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:17163275C>T	uc003wxm.3	-	10	1582	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	MTMR7_uc003wxn.3_Missense_Mutation_p.R227Q|MTMR7_uc011kya.2_Missense_Mutation_p.R82Q|MTMR7_uc011kyb.2_Missense_Mutation_p.R39Q	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	448	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTTGAGTTCTCGTCTCTCCTT	0.343000														35			7		0	0	0.00307968	0	0
NUP153	9972	broad.mit.edu	37	6	17675216	17675216	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:17675216G>A	uc003ncd.1	-	4	972	c.772C>T	c.(772-774)Cct>Tct	p.P258S	NUP153_uc011dje.1_Missense_Mutation_p.P258S|NUP153_uc010jpl.1_Missense_Mutation_p.P258S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	258					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGATAAAAAGGAGAATCTCCA	0.418000														81			14		0	0	0.00400662	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476955	110476955	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:110476955C>T	uc003yne.3	+	48	7998	c.7894C>T	c.(7894-7896)Ccc>Tcc	p.P2632S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2632					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAATATTTCCCCATGCAAAC	0.398000										HNSCC(38;0.096)				133			13		0	0	0.00316338	0	0
RBM28	55131	broad.mit.edu	37	7	127970892	127970892	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:127970892G>A	uc003vmp.2	-	9	1224	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	RBM28_uc011koj.1_Missense_Mutation_p.P229L|RBM28_uc011kok.1_Missense_Mutation_p.P317L	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	370	RRM 3.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding	p.H369R(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTCTGTGTCTGGATGCAAGAC	0.468000														75			11		0	0	0.00136819	0	0
CPT1B	1375	broad.mit.edu	37	22	51011383	51011383	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:51011383A>C	uc003bmm.3	-	10	1372	c.1273T>G	c.(1273-1275)Tcc>Gcc	p.S425A	CPT1B_uc003bmk.4_Missense_Mutation_p.S425A|CPT1B_uc003bml.3_Missense_Mutation_p.S425A|CPT1B_uc003bmo.3_Missense_Mutation_p.S425A|CPT1B_uc011asa.2_Missense_Mutation_p.S391A|CPT1B_uc003bmn.3_Missense_Mutation_p.S425A|CPT1B_uc011asb.2_Intron|CPT1B_uc003bmp.3_Missense_Mutation_p.S222A|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	425					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TAGGAGTAGGATTCCTCATCC	0.602000														169			16		0	0	0.00400662	0	0
CNGB3	54714	broad.mit.edu	37	8	87738790	87738790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:87738790C>T	uc003ydx.3	-	2	355	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	103					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGGTCCATTTCCTTCTGCTCT	0.438000														199			30		0	0	0.0024448	0	0
OR10H3	26532	broad.mit.edu	37	19	15852774	15852774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:15852774G>A	uc010xoq.2	+	0	572	c.572G>A	c.(571-573)gGg>gAg	p.G191E		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G191E(2)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTGGCCTGTGGGAGCAAGACA	0.463000														146			21		0	0	0.00188189	0	0
IL12RB1	3594	broad.mit.edu	37	19	18192971	18192971	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:18192971G>A	uc002nhx.1	-	3	399	c.348C>T	c.(346-348)ttC>ttT	p.F116F	IL12RB1_uc002nhw.1_Silent_p.F76F|IL12RB1_uc010xqb.1_Silent_p.F76F|IL12RB1_uc002nhy.3_Silent_p.F76F	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	76	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|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 activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AACACCGCAGGAAGTGGCTGA	0.602000														23			4		0	0	0.00024832	0	0
MTUS2	23281	broad.mit.edu	37	13	29600115	29600115	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:29600115C>T	uc001usl.4	+	0	1368	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	427						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						GAAAGGACATCCAGCAGCTTT	0.507000														49			9		0	0	0.000673444	0	0
OR1S1	219959	broad.mit.edu	37	11	57982703	57982703	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:57982703T>C	uc010rkc.2	+	0	487	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CATCTCATGGTTCCTCAGTAA	0.483000														123			18		0	0	0.000958276	0	0
WNT8B	7479	broad.mit.edu	37	10	102242541	102242541	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:102242541G>A	uc001krb.3	+	5	1138	c.1024G>A	c.(1024-1026)Ggc>Agc	p.G342S		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	342					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GCCGCGGGGGGGCGCTGCGCA	0.622000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			4		0	0	0.000602214	0	0
DNAH7	56171	broad.mit.edu	37	2	196651813	196651813	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:196651813C>T	uc002utj.4	-	57	10900	c.10799G>A	c.(10798-10800)tGg>tAg	p.W3600*	DNAH7_uc002uti.4_Nonsense_Mutation_p.W83*	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3600	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G3599W(1)		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						AGGAATATTCCACCCTAGGGG	0.403000														76			10		0	0	0.000978159	0	0
FAM59A	64762	broad.mit.edu	37	18	29848148	29848148	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:29848148T>C	uc002kxl.3	-	5	2373	c.2317A>G	c.(2317-2319)Atg>Gtg	p.M773V	FAM59A_uc002kxk.2_Missense_Mutation_p.M772V	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	773										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						ATGTCCTGCATGCCCTTTTTA	0.547000														64			7		0	0	0.00307968	0	0
CHD6	84181	broad.mit.edu	37	20	40052213	40052213	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:40052213C>T	uc002xka.1	-	29	4652	c.4474G>A	c.(4474-4476)Gat>Aat	p.D1492N		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1492					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.S1491S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGCTCTCATCCGACTTCTTG	0.433000														254			27		0	0	0.000878237	0	0
AHSG	197	broad.mit.edu	37	3	186333585	186333585	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:186333585G>A	uc003fqk.4	+	2	405	c.324_splice	c.e2+1	p.H108_splice	AHSG_uc003fqj.3_Splice_Site_p.H108_splice	NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	108	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GAAGGAGCATGTGAGTACCCT	0.567000														47			7		0	0	0.00307968	0	0
BPI	671	broad.mit.edu	37	20	36938957	36938957	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:36938957G>A	uc002xib.2	+	3	513	c.451G>A	c.(451-453)Ggc>Agc	p.G151S		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	151					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTGAAGCTGGGCAGTAACCC	0.512000														51			6		0	0	0.00116845	0	0
KIF5A	3798	broad.mit.edu	37	12	57975679	57975679	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:57975679G>A	uc001sor.1	+	25	3144	c.2936G>A	c.(2935-2937)gGa>gAa	p.G979E	KIF5A_uc010srr.1_Missense_Mutation_p.G890E	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	979	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACCAGCAGTGGAGCCACATCT	0.552000														81			11		0	0	0.00136819	0	0
PAX1	5075	broad.mit.edu	37	20	21689274	21689274	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:21689274C>T	uc002wsj.2	+	2	1049	c.995C>T	c.(994-996)cCc>cTc	p.P332L	PAX1_uc010zsl.2_Missense_Mutation_p.P332L|PAX1_uc010zsm.2_Missense_Mutation_p.P308L	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	332					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACGGCCTTCCCCGCCACCCCC	0.602000														87			15		0	0	0.00316338	0	0
ACOX3	8310	broad.mit.edu	37	4	8416051	8416051	+	Missense_Mutation	SNP	G	A	A	rs140131783	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:8416051G>A	uc010idk.3	-	4	656	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	ACOX3_uc003glc.4_Missense_Mutation_p.R171C|ACOX3_uc003gld.4_Missense_Mutation_p.R171C	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	171					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCAGTTGTGCGAATGGCCTTG	0.463000														104			9		0	0	0.000442599	0	0
COL4A1	1282	broad.mit.edu	37	13	110850836	110850836	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:110850836G>A	uc001vqw.4	-	20	1385	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	421	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTGCCCAGGGGGCCCAGGGG	0.592000														70			6		0	0	0.00307968	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145780997	145780997	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:145780997C>T	uc003zds.1	-	4	1098	c.543G>A	c.(541-543)aaG>aaA	p.K181K	ARHGAP39_uc011llk.1_Silent_p.K181K|ARHGAP39_uc003zdt.1_Silent_p.K181K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	181					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCTCATAGTCCTTCTCAAGGA	0.478000														147			13		0	0	0.000566183	0	0
TLL2	7093	broad.mit.edu	37	10	98138808	98138808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:98138808C>T	uc001kml.2	-	16	2477	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	746	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTGACGCACTCATGCTGACAC	0.562000														121			24		0	0	0.000720815	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38494424	38494424	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:38494424G>A	uc003auw.3	-	4	486	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	114	IMD.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TCACTTTGATGAACTGCATGT	0.597000											OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			12		0	0	0.00316338	0	0
C19orf75	284369	broad.mit.edu	37	19	51768682	51768682	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:51768682C>T	uc002pwb.1	+	2	464	c.83C>T	c.(82-84)tCc>tTc	p.S28F	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	28						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TGCAGCTGTTCCTTCCATGGG	0.582000														86			9		0	0	0.000673444	0	0
AEBP2	121536	broad.mit.edu	37	12	19665357	19665357	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:19665357C>T	uc001ref.2	+	5	1351	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F	AEBP2_uc001ree.2_Missense_Mutation_p.S442F|AEBP2_uc001reg.1_Missense_Mutation_p.S213F	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	Homo sapiens AE binding protein 2 (AEBP2), transcript variant 2, mRNA.	442	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AAAGAAGATTCTGGGAAGATC	0.264000														9			3		0	0	6.4e-05	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559889	44559889	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:44559889C>T	uc002lcr.1	-	0	2100	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	583	Activation domain (By similarity).				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						CTCCGTAATTCGTCTGTCTCT	0.517000														72			6		0	0	0.00116845	0	0
NUP205	23165	broad.mit.edu	37	7	135261109	135261109	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:135261109C>T	uc003vsw.3	+	3	466	c.435C>T	c.(433-435)tcC>tcT	p.S145S	NUP205_uc011kqa.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	145					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCGAATTCCTTGAAAGCCT	0.428000														90			7		0	0	0.00307968	0	0
POLR1A	25885	broad.mit.edu	37	2	86255069	86255069	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:86255069G>A	uc002sqs.3	-	32	5380	c.5001C>T	c.(4999-5001)tcC>tcT	p.S1667S	POLR1A_uc010ytb.2_Silent_p.S1033S	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1667					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCTGTAGCGGGGAAGAGTTTG	0.552000														97			14		0	0	0.00400662	0	0
ABCC11	85320	broad.mit.edu	37	16	48244950	48244950	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:48244950C>T	uc002eff.1	-	9	1867	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E	ABCC11_uc002efg.1_Missense_Mutation_p.G506E|ABCC11_uc002efh.1_Missense_Mutation_p.G506E|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	506						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCTGGTCATCCCCTCAGAAGC	0.597000														59			12		0	0	0.00136819	0	0
PDILT	204474	broad.mit.edu	37	16	20384393	20384393	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:20384393C>T	uc002dhc.1	-	5	956	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	245					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CGATTGAGTTCCTGTTTGTTG	0.423000														108			16		0	0	0.00121646	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054371	21054371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:21054371C>T	uc010sil.2	+	12	1900	c.1835C>T	c.(1834-1836)gCt>gTt	p.A612V	SLCO1B3_uc001rek.3_Missense_Mutation_p.A612V|SLCO1B3_uc001rel.3_Missense_Mutation_p.A612V|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	612					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCACAAGGGGCTTGTAGGATA	0.358000														100			14		0	0	0.00244969	0	0
CLN5	1203	broad.mit.edu	37	13	77570195	77570195	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:77570195T>A	uc001vkc.3	+	2	673	c.645T>A	c.(643-645)ttT>ttA	p.F215L		NM_006493	NP_006484	O75503	CLN5_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.	166					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.C214F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		CTGCCTGCTTTTTTGAGGGAA	0.403000														124			13		0	0	0.00400662	0	0
RGS5	8490	broad.mit.edu	37	1	163131767	163131767	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:163131767C>T	uc001gcn.3	-	3	494	c.156_splice	c.e3-1	p.K52_splice	RGS5_uc021pdu.1_Splice_Site|RGS5_uc021pdt.1_Splice_Site_p.K52_splice|RGS5_uc009wvb.3_Intron	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	52					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGCGAGGTTCTACATCAATA	0.423000														68			5		0	0	0.00116845	0	0
ASXL3	80816	broad.mit.edu	37	18	31325349	31325349	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:31325349G>A	uc010dmg.1	+	11	5592	c.5537G>A	c.(5536-5538)gGa>gAa	p.G1846E	ASXL3_uc002kxq.2_Missense_Mutation_p.G1553E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1846					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGTGAACCAGGAAAATTGTTG	0.478000														281			37		0	0	0.00128727	0	0
GLYAT	10249	broad.mit.edu	37	11	58491913	58491913	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:58491913C>T	uc001nnb.3	-	1	212	c.57G>A	c.(55-57)agG>agA	p.R19R	GLYAT_uc001nnc.3_Silent_p.R19R	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	19					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGAGGCTCTTCCTCAAGGATT	0.438000														65			15		0	0	0.00074312	0	0
WDR96	80217	broad.mit.edu	37	10	105893468	105893468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:105893468C>T	uc001kxw.3	-	34	4622	c.4506G>A	c.(4504-4506)tgG>tgA	p.W1502*	WDR96_uc009xxq.3_Nonsense_Mutation_p.W781*	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1502										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTTATGTTCCCACTCAATCT	0.338000														50			11		0	0	0.000673444	0	0
KCNV1	27012	broad.mit.edu	37	8	110984919	110984919	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:110984919C>T	uc003ynr.4	-	1	1363	c.559G>A	c.(559-561)Gga>Aga	p.G187R	KCNV1_uc010mcw.3_Missense_Mutation_p.G187R	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	187						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.Q186K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGACAAGGTCCTTGGGAGAAG	0.468000														87			16		0	0	0.00316338	0	0
SAMD3	154075	broad.mit.edu	37	6	130465700	130465700	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:130465700C>T	uc003qbw.3	-	11	1856	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	SAMD3_uc003qbx.3_Missense_Mutation_p.E510K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	510										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)		ACTTCGTTTTCCTTTTCTTTC	0.373000														57			6		0	0	0.00116845	0	0
A1CF	29974	broad.mit.edu	37	10	52575824	52575824	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:52575824G>A	uc001jjj.3	-	8	1271	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	A1CF_uc010qho.2_Silent_p.F369F|A1CF_uc010qhn.2_Silent_p.F369F|A1CF_uc009xov.3_Silent_p.F361F|A1CF_uc001jji.3_Silent_p.F361F|A1CF_uc001jjh.3_Silent_p.F369F	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	361	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGGTGGCTGGGAAATGAAGAC	0.488000														60			18		0	0	0.000958276	0	0
ITGA5	3678	broad.mit.edu	37	12	54797093	54797093	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:54797093G>A	uc001sga.3	-	17	1860	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	598					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGTTTGTCTCGAAATTCTGAC	0.572000														164			20		0	0	0.00229938	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158607	50158607	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:50158607G>A	uc001zxu.3	-	25	3244	c.3102C>T	c.(3100-3102)tcC>tcT	p.S1034S	ATP8B4_uc010ber.3_Silent_p.S907S|ATP8B4_uc010ufd.2_Silent_p.S844S|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Silent_p.S37S	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1034					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TAAATAAAATGGAGAAATAAA	0.393000														41			7		0	0	0.00198382	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131796599	131796599	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:131796599C>T	uc002tsa.1	+	5	1260	c.741C>T	c.(739-741)ttC>ttT	p.F247F	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Silent_p.F247F|ARHGEF4_uc010fmx.1_Silent_p.F247F|ARHGEF4_uc002tsc.1_5'Flank	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	247	SH3.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CAGCCAGCTTCGTTCGGGTAT	0.577000														21			5		0	0	0.000602214	0	0
GABPB2	126626	broad.mit.edu	37	1	151079544	151079544	+	Silent	SNP	C	T	T	rs139254162	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:151079544C>T	uc001ewr.2	+	6	1099	c.768C>T	c.(766-768)tcC>tcT	p.S256S	GABPB2_uc001ewt.2_Silent_p.S117S	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	256					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AAGGAAATTCCGTTGACTCAT	0.393000														75			7		0	0	0.000673444	0	0
UBR4	23352	broad.mit.edu	37	1	19430658	19430658	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:19430658C>A	uc001bbi.3	-	86	12825	c.12821G>T	c.(12820-12822)cGg>cTg	p.R4274L	UBR4_uc010ocw.2_5'Flank|UBR4_uc001bbg.3_5'UTR|UBR4_uc001bbh.3_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4274					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)		CACCAGCTTCCGCAAGCACAG	0.532000														94			8		0.000274275	0.000804867	0.000274275	1	0
AGER	177	broad.mit.edu	37	6	32151332	32151332	+	Splice_Site	SNP	G	T	T	rs142731923		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:32151332G>T	uc003oal.2	-	3	455	c.355_splice	c.e3+1	p.Q119_splice	AGER_uc021yvm.1_Splice_Site_p.T14_splice|AGER_uc021yvn.1_Splice_Site_p.Q18_splice|AGER_uc010jtw.2_Splice_Site|AGER_uc021yvp.1_Intron|AGER_uc021yvq.1_Splice_Site_p.Q18_splice|AGER_uc011dpn.2_Splice_Site_p.Q18_splice|AGER_uc011dpm.2_Splice_Site_p.Q18_splice|AGER_uc003oap.2_Splice_Site_p.Q119_splice|AGER_uc021yvr.1_Splice_Site_p.Q119_splice|AGER_uc003oam.2_Intron|AGER_uc003oau.2_Splice_Site_p.Q119_splice|AGER_uc003oas.2_Splice_Site_p.Q119_splice|AGER_uc010jtv.2_Splice_Site_p.Q119_splice|AGER_uc003oar.3_Splice_Site_p.Q18_splice|AGER_uc003oaq.2_Splice_Site_p.Q105_splice|AGER_uc003oat.2_Splice_Site_p.Q119_splice|AGER_uc003oan.2_Splice_Site_p.Q105_splice|AGER_uc011dpo.2_Splice_Site_p.T14_splice|AGER_uc003oao.2_Splice_Site|AGER_uc021yvo.1_Splice_Site_p.T14_splice|AGER_uc011dpp.2_Splice_Site_p.Q150_splice|AGER_uc011dpq.2_Splice_Site_p.Q150_splice|AGER_uc011dpr.2_Splice_Site_p.Q150_splice|AGER_uc011dps.2_Missense_Mutation_p.R150S	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	119					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	p.Q119K(1)		breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GAATTCTTACGGTAGACACGG	0.557000														380			14		0.00244969	0.00715462	0.00244969	1	0
C4BPB	725	broad.mit.edu	37	1	207273143	207273143	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:207273143C>T	uc009xcd.3	+	6	1101	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	C4BPB_uc001hfi.3_Nonsense_Mutation_p.Q209*|C4BPB_uc001hfj.3_Nonsense_Mutation_p.Q210*|C4BPB_uc001hfl.3_Nonsense_Mutation_p.Q210*|C4BPB_uc001hfk.3_Nonsense_Mutation_p.Q209*|C4BPB_uc001hfm.3_Nonsense_Mutation_p.Q210*	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	210					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GCTTGCCTTTCAGGAGAGTAA	0.418000														80			10		0	0	0.000673444	0	0
STK36	27148	broad.mit.edu	37	2	219563458	219563458	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:219563458C>T	uc002viu.3	+	25	3470	c.3191C>T	c.(3190-3192)tCg>tTg	p.S1064L	STK36_uc002viv.3_Missense_Mutation_p.S1043L|STK36_uc002vix.3_Missense_Mutation_p.S109L	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	1064					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ACCATCGTCTCGTTTCTCTCA	0.582000														173			17		0	0	0.00152264	0	0
IQGAP2	10788	broad.mit.edu	37	5	75979727	75979727	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:75979727G>A	uc003kek.3	+	29	4112	c.3890G>A	c.(3889-3891)cGa>cAa	p.R1297Q	IQGAP2_uc011csv.2_Missense_Mutation_p.R793Q|IQGAP2_uc003kel.3_Missense_Mutation_p.R793Q|IQGAP2_uc010izw.1_5'UTR	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1297					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAGATAGCCGAAGCCTCATG	0.388000														35			4		0	0	0.000602214	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097973	43097973	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43097973C>T	uc002oud.2	-	1	246	c.144G>A	c.(142-144)ggG>ggA	p.G48G	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	48	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GAACCTCCTTCCCCTCTGCAG	0.537000														140			15		0	0	0.00121646	0	0
ATP8A2	51761	broad.mit.edu	37	13	26127989	26127990	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:26127989_26127990TC>AT	uc001uqk.3	+	11	1258_1259	c.1116_1117TC>AT	c.(1114-1119)aatctt>aaATtt	p.372_373NL>KF	ATP8A2_uc010tdi.2_Missense_Mutation_p.332_333NL>KF|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.332_333NL>KF	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	332					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TATACAACAATCTTATTCCCAT	0.391000														103			12		0	0	6.4e-05	0	0
FAM217A	222826	broad.mit.edu	37	6	4069899	4069899	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:4069899C>T	uc003mvx.3	-	6	964	c.558G>A	c.(556-558)tgG>tgA	p.W186*	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Nonsense_Mutation_p.W123*	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	186																	GTTTCAAATTCCAATTTGGAG	0.318000														73			6		0	0	0.00198382	0	0
GLRB	2743	broad.mit.edu	37	4	158057783	158057783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:158057783C>T	uc003ipj.2	+	4	662	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	GLRB_uc021xtp.1_Missense_Mutation_p.H154Y|GLRB_uc021xtq.1_Missense_Mutation_p.H154Y	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	154					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.H154Y(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGCCAATTTTCATGATGTGAC	0.353000														105			7		0	0	0.000274275	0	0
CLDN16	10686	broad.mit.edu	37	3	190120204	190120204	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:190120204G>A	uc003fsi.3	+	1	651	c.403G>A	c.(403-405)Gat>Aat	p.D135N	CLDN16_uc010hze.3_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	135					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGATGAGTACGATTCCATACT	0.493000														117			21		0	0	0.00229938	0	0
PSG5	5673	broad.mit.edu	37	19	43680107	43680107	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43680107C>T	uc002ovu.3	-	2	755	c.624G>A	c.(622-624)acG>acA	p.T208T	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.T208T	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	208	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTCATTTCTCGTGACACTGG	0.498000														133			20		0	0	0.00332997	0	0
C1orf106	55765	broad.mit.edu	37	1	200880682	200880682	+	Missense_Mutation	SNP	C	T	T	rs145738054	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:200880682C>T	uc001gvo.3	+	8	1358	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	C1orf106_uc010ppm.2_Missense_Mutation_p.P354L	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	439										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TCCTGCTTTCCCGCGACCAAG	0.687000														230			25		0	0	0.00395357	0	0
NYAP2	57624	broad.mit.edu	37	2	226447182	226447182	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:226447182C>T	uc002voe.2	+	3	1224	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.S120F	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	350	Pro-rich.																TCCCCCAACTCCGACGAGTCC	0.642000														24			4		0	0	0.00024832	0	0
PDK4	5166	broad.mit.edu	37	7	95222230	95222230	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:95222230C>T	uc003uoa.3	-	3	691	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	PDK4_uc003unz.3_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	124					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GTGTCTATTTCGAACTTTGAT	0.348000														89			9		0	0	0.00136819	0	0
CDH6	1004	broad.mit.edu	37	5	31317869	31317869	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:31317869G>A	uc003jhe.2	+	10	2080	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N	CDH6_uc003jhd.2_Missense_Mutation_p.D574N	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	574	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCAGACAACGACTACCCAGT	0.527000														35			6		0	0	0.00116845	0	0
DSP	1832	broad.mit.edu	37	6	7583007	7583007	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:7583007C>T	uc003mxp.1	+	23	5791	c.5512C>T	c.(5512-5514)Cgt>Tgt	p.R1838C	DSP_uc003mxq.1_Missense_Mutation_p.R1239C|DSP_uc021yle.1_Missense_Mutation_p.R1395C	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1838	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.R1838C(2)		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)		TGAGCTGAATCGTGCAAAATC	0.483000														161			17		0	0	0.000958276	0	0
TTLL6	284076	broad.mit.edu	37	17	46847099	46847099	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:46847099T>G	uc021tzm.1	-	13	2436	c.2401A>C	c.(2401-2403)Aac>Cac	p.N801H	TTLL6_uc002iob.3_Missense_Mutation_p.N494H|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Missense_Mutation_p.N554H|TTLL6_uc002iod.3_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	753						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.N479D(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CGTGACAGGTTATTCATCCCC	0.522000														70			18		0	0	0.000958276	0	0
MYH8	4626	broad.mit.edu	37	17	10304036	10304036	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10304036C>T	uc002gmm.2	-	26	3501	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1136					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						CGCTGCTTCTCCGCTTTGGCT	0.552000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					82			7		0	0	0.000274275	0	0
ZBTB5	9925	broad.mit.edu	37	9	37440577	37440577	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:37440577T>A	uc022bgv.1	-	0	1972	c.1972A>T	c.(1972-1974)Aag>Tag	p.K658*	ZBTB5_uc003zzx.3_Nonsense_Mutation_p.K658*	NM_014872	NP_055687	O15062	ZBTB5_HUMAN	Homo sapiens zinc finger and BTB domain containing 5 (ZBTB5), mRNA.	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TTTGAGTGCTTATACAGGTGG	0.507000														63			8		0	0	0.000274275	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325113	162325113	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:162325113G>A	uc001gbv.2	+	6	1119	c.732G>A	c.(730-732)ggG>ggA	p.G244G	NOS1AP_uc010pkr.1_Silent_p.G239G|NOS1AP_uc001gbw.2_Silent_p.G239G|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	244					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ATGCTGTAGGGAAGGAAGGAG	0.557000														143			8		0	0	0.000442599	0	0
RARB	5915	broad.mit.edu	37	3	25635173	25635173	+	Silent	SNP	C	G	G	rs114613844	by1000genomes	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:25635173C>G	uc011awl.2	+	5	1053	c.987C>G	c.(985-987)ctC>ctG	p.L329L	RARB_uc003cdi.2_Silent_p.L210L|RARB_uc003cdh.3_Silent_p.L322L	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	329	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGGCCTTCTCAGTGCCATCT	0.428000														40			13		0	0	0.00316338	0	0
MUC16	94025	broad.mit.edu	37	19	9089598	9089598	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9089598C>T	uc002mkp.3	-	0	2421	c.2217G>A	c.(2215-2217)gcG>gcA	p.A739A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	739	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A739T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGCTGGTCGCTGACACTT	0.493000														113			19		0	0	0.00229938	0	0
SHANK2	22941	broad.mit.edu	37	11	70333016	70333016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:70333016C>T	uc001oqc.3	-	20	3296	c.3184G>A	c.(3184-3186)Gag>Aag	p.E1062K	SHANK2_uc010rqn.2_Missense_Mutation_p.E538K|SHANK2_uc001opz.3_Missense_Mutation_p.E533K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	749					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCCCCTCCTCGGGGAACATG	0.677000														46			10		0	0	0.000673444	0	0
CCDC135	84229	broad.mit.edu	37	16	57738800	57738800	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:57738800G>A	uc002emi.3	+	5	801	c.712G>A	c.(712-714)Gag>Aag	p.E238K	CCDC135_uc002emj.3_Missense_Mutation_p.E238K|CCDC135_uc002emk.3_Missense_Mutation_p.E173K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	238						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CATCAAGAAGGAGGAAAAGGT	0.547000														41			6		0	0	0.00198382	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004441	44004441	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:44004441G>A	uc003bdy.2	-	21	2916	c.2602C>T	c.(2602-2604)Cga>Tga	p.R868*	EFCAB6_uc003bdz.2_Nonsense_Mutation_p.R716*|EFCAB6_uc010gzi.2_Nonsense_Mutation_p.R716*|EFCAB6_uc010gzj.1_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	868	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.R868*(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCCCGGCGTCGAAGAATGCCA	0.438000														51			8		0	0	0.000274275	0	0
PTPRK	5796	broad.mit.edu	37	6	128294288	128294288	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:128294288C>T	uc003qbk.3	-	28	4512	c.4145G>A	c.(4144-4146)cGa>cAa	p.R1382Q	PTPRK_uc010kfc.3_Missense_Mutation_p.R1389Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R1383Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R1405Q	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1382	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATGCCACTTCGCCCGCCACC	0.433000														80			21		0	0	0.00229938	0	0
MAN1A1	4121	broad.mit.edu	37	6	119628140	119628140	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:119628140C>T	uc003pym.1	-	2	1063	c.621G>A	c.(619-621)tgG>tgA	p.W207*	MAN1A1_uc010kei.2_Nonsense_Mutation_p.W230*	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	207					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TATAATTATTCCAAGCATGTT	0.318000														102			12		0	0	0.00136819	0	0
PLG	5340	broad.mit.edu	37	6	161139449	161139449	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:161139449C>T	uc003qtm.4	+	7	1023	c.911C>T	c.(910-912)cCt>cTt	p.P304L		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	304	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.T303N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCACAGACCCCTCACACACAT	0.527000														91			9		0	0	0.000274275	0	0
LILRA4	23547	broad.mit.edu	37	19	54849442	54849442	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:54849442G>A	uc002qfj.3	-	3	477	c.420C>T	c.(418-420)acC>acT	p.T140T	LILRA4_uc002qfi.3_Silent_p.T74T	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	140	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACACCGGAGGGTCACGTTCA	0.567000														57			6		0	0	0.00307968	0	0
ACMSD	130013	broad.mit.edu	37	2	135616903	135616903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:135616903C>T	uc002ttz.3	+	2	242	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	ACMSD_uc002tua.3_Silent_p.F17F	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	59					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TCCAGAAGTTCGTATTAGAGA	0.418000														72			8		0	0	0.000274275	0	0
A2ML1	144568	broad.mit.edu	37	12	8982357	8982357	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:8982357C>T	uc001quz.4	+	3	542	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATAGCAACTTCGTTCCAGTGA	0.458000														91			8		0	0	0.00307968	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470268	67470268	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:67470268C>A	uc002etd.3	+	3	897	c.781C>A	c.(781-783)Cag>Aag	p.Q261K		NM_000196	NP_000187	P80365	DHI2_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA.	261					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	CAGCATCATCCAGCCTGGCTG	0.607000														86			8		0.00307968	0.00895213	0.00307968	1	0
TET1	80312	broad.mit.edu	37	10	70411639	70411639	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:70411639C>T	uc001jok.4	+	4	4818	c.4313C>T	c.(4312-4314)aCa>aTa	p.T1438I		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1438					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCATATTATACACACCTTGGG	0.423000														156			42		0	0	0.00361006	0	0
ANKRD52	283373	broad.mit.edu	37	12	56647912	56647912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:56647912G>A	uc001skm.4	-	7	935	c.845C>T	c.(844-846)tCc>tTc	p.S282F	ANKRD52_uc001skn.1_Non-coding_Transcript	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	282							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCCATTGGTGGAGACTGCAGC	0.562000														87			8		0	0	0.000274275	0	0
abParts	0	broad.mit.edu	37	2	90259989	90259989	+	RNA	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:90259989C>T	uc010yts.2	+	40		c.5257C>T								Parts of antibodies, mostly variable regions.																		CAGTCTCCATCCTTACTCTCT	0.423000														32			9		0	0	0.000442599	0	0
DNAH5	1767	broad.mit.edu	37	5	13714630	13714630	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:13714630G>A	uc003jfd.2	-	74	13051	c.13009C>T	c.(13009-13011)Cta>Tta	p.L4337L	DNAH5_uc003jfc.2_Silent_p.L505L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4337					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)					TGGATGCCTAGGATGGTGTCC	0.612000									Kartagener syndrome					75			9		0	0	0.000274275	0	0
XDH	7498	broad.mit.edu	37	2	31621540	31621540	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:31621540G>A	uc002rnv.1	-	4	411	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	111					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)	CCCGCACTGGGAGCCGTGGCT	0.557000														125			14		0	0	0.00074312	0	0
LRRN1	57633	broad.mit.edu	37	3	3887642	3887642	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:3887642C>T	uc003bpt.4	+	1	2078	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.I439I	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	439	Ig-like C2-type.					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)		ACGTGGATATCGGCACGACGG	0.468000														54			8		0	0	0.00307968	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430974	37430974	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:37430974C>T	uc021ppc.1	+	6	1080	c.981C>T	c.(979-981)atC>atT	p.I327I	ANKRD30A_uc001iza.1_Silent_p.I327I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	383						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I327I(2)|p.I327N(1)|p.K326N(1)		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						CTAGGAAGATCGCATGGGAGA	0.433000														88			12		0	0	0.00136819	0	0
MYH15	22989	broad.mit.edu	37	3	108147413	108147413	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:108147413C>T	uc003dxa.1	-	27	3745	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1230						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGTCTTTTTCCAGTTTCTGC	0.488000														121			12		0	0	0.00244969	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192440	133192440	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:133192440C>T	uc003ytj.3	-	3	966	c.741G>A	c.(739-741)tgG>tgA	p.W247*	KCNQ3_uc003yti.3_Nonsense_Mutation_p.W127*|KCNQ3_uc010mdt.3_Nonsense_Mutation_p.W247*	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	247					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W247*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCAGAAGCTTCCAGGTGCCAC	0.597000														113			7		0	0	0.00307968	0	0
LRP2	4036	broad.mit.edu	37	2	170097742	170097742	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:170097742G>A	uc002ues.3	-	24	4014	c.3801C>T	c.(3799-3801)gtC>gtT	p.V1267V	LRP2_uc010zdf.1_Silent_p.V1130V	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1267	LDL-receptor class A 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGTCTTGGGGACACAGGCAT	0.502000														90			19		0	0	0.00152264	0	0
MARVELD2	153562	broad.mit.edu	37	5	68716027	68716027	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:68716027T>C	uc003jwq.3	+	1	889	c.815T>C	c.(814-816)gTt>gCt	p.V272A	MARVELD2_uc010ixf.3_Missense_Mutation_p.V272A|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	272	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATTATTCTGGTTCTTGGCATG	0.433000														97			17		0	0	0.00074312	0	0
NLRP9	338321	broad.mit.edu	37	19	56241279	56241279	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:56241279C>T	uc002qly.3	-	2	1940	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	638						cytoplasm	ATP binding	p.M637I(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGGTATTTTCCATGTCTAAA	0.423000														87			17		0	0	0.000566183	0	0
D21847	0	broad.mit.edu	37	14	22090529	22090529	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:22090529G>A	uc001wbi.2	+	1	181	c.168G>A	c.(166-168)ggG>ggA	p.G56G						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		AGACATCTGGGTTTTATGGGC	0.498000														101			14		0	0	0.000566183	0	0
AOX1	316	broad.mit.edu	37	2	201485923	201485923	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:201485923C>T	uc002uvx.3	+	17	2056	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	AOX1_uc010zhf.2_Missense_Mutation_p.S208F|AOX1_uc010fsu.3_Missense_Mutation_p.S18F	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	652					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GACGTCAACTCCTTCTGCTTT	0.413000														99			13		0	0	0.00136819	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015211	45015211	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:45015211C>T	uc010ejn.1	-	11	1630	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	CEACAM20_uc010ejo.1_Silent_p.T526T|CEACAM20_uc010ejp.1_Silent_p.T445T|CEACAM20_uc010ejq.1_Silent_p.T433T	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	538						integral to membrane		p.T537M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGGCAGCTTCGTCTGCAAGT	0.532000														270			32		0	0	0.00283554	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714163	32714163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:32714163C>T	uc003obx.3	+	3	818	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	254					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACACCAAGGGCTCTTATGAAT	0.532000														124			10		0	0	0.000673444	0	0
UNC13A	23025	broad.mit.edu	37	19	17735706	17735706	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:17735706C>T	uc021uqk.1	-	34	4168	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1377	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTCCACAGCTCCTTCAGCACT	0.602000														43			14		0	0	0.00316338	0	0
UBE2L6	9246	broad.mit.edu	37	11	57319895	57319895	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:57319895G>A	uc001nkn.2	-	3	494	c.398C>T	c.(397-399)cCg>cTg	p.P133L	UBE2L6_uc001nko.2_Missense_Mutation_p.P67L	NM_004223	NP_937826	O14933	UB2L6_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2L 6 (UBE2L6), transcript variant 1, mRNA.	133					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	p.P133L(2)		large_intestine(1)|lung(3)|ovary(1)	5						GAACAGCTCCGGATTCTGTGT	0.577000														196			14		0	0	0.00316338	0	0
ROPN1B	152015	broad.mit.edu	37	3	125690939	125690939	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:125690939G>A	uc003eih.3	+	1	270	c.42G>A	c.(40-42)ctG>ctA	p.L14L	ROPN1B_uc010hsb.3_Silent_p.L14L|ROPN1B_uc011bkg.2_Silent_p.L14L	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	Homo sapiens rhophilin associated tail protein 1B (ROPN1B), mRNA.	14	RIIa.				Rho protein signal transduction|acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		CGCCGGAGCTGCCGAAAATGC	0.517000														88			13		0	0	0.00316338	0	0
TIMM21	29090	broad.mit.edu	37	18	71816207	71816207	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:71816207G>C	uc010dqr.1	+	0	462	c.164G>C	c.(163-165)aGa>aCa	p.R55T	FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.	55					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		p.R55T(1)									CTGCGACCTAGATGTATTCTT	0.493000														201			15		0	0	0.000566183	0	0
MTRR	4552	broad.mit.edu	37	5	7891493	7891493	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:7891493C>T	uc003jed.3	+	9	1447	c.1417C>T	c.(1417-1419)Cct>Tct	p.P473S	MTRR_uc003jee.4_Missense_Mutation_p.P446S|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	473	FAD-binding FR-type.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGAACATCTTCCTAAACTTCA	0.289000														82			8		0	0	0.000442599	0	0
METTL21D	79609	broad.mit.edu	37	14	50583133	50583133	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:50583133G>A	uc001wxo.1	-	0	165	c.138C>T	c.(136-138)gcC>gcT	p.A46A	METTL21D_uc001wxn.1_5'Flank|METTL21D_uc001wxp.1_Silent_p.A46A|METTL21D_uc001wxq.1_Non-coding_Transcript	NM_024558	NP_078834	Q9H867	MT21D_HUMAN	Homo sapiens methyltransferase like 21D (METTL21D), transcript variant 1, mRNA.	46							methyltransferase activity			kidney(1)|lung(1)|urinary_tract(1)	3						AAAGGACAATGGCAGCGTCCC	0.617000														31			5		0	0	0.000602214	0	0
DNTT	1791	broad.mit.edu	37	10	98064354	98064354	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:98064354G>A	uc001kmf.3	+	0	270	c.100G>A	c.(100-102)Gat>Aat	p.D34N	DNTT_uc001kmg.3_Missense_Mutation_p.D34N	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	34	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAAATTTCAAGATTTGGTCGT	0.542000														54			15		0	0	0.00316338	0	0
DCTN5	84516	broad.mit.edu	37	16	23677033	23677033	+	Silent	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:23677033C>A	uc002dly.2	+	4	612	c.435C>A	c.(433-435)gtC>gtA	p.V145V	DCTN5_uc021tfi.1_Silent_p.V103V|DCTN5_uc021tfj.1_Silent_p.V145V	NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	Homo sapiens dynactin 5 (p25) (DCTN5), transcript variant 1, mRNA.	145						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CATTCACTGTCTTCTCAGGCT	0.403000														93			6		0.000274275	0.000804867	0.000274275	1	0
ZBTB7C	201501	broad.mit.edu	37	18	45567330	45567330	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:45567330G>A	uc010dnv.3	-	2	651	c.215C>T	c.(214-216)tCc>tTc	p.S72F	ZBTB7C_uc002ldb.3_Missense_Mutation_p.S50F|ZBTB7C_uc010dnu.3_Missense_Mutation_p.S59F|ZBTB7C_uc010dnw.3_Missense_Mutation_p.S50F|ZBTB7C_uc010dnx.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dny.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dnz.1_Missense_Mutation_p.S72F|ZBTB7C_uc010doi.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doj.1_Missense_Mutation_p.S59F|ZBTB7C_uc010dok.1_Missense_Mutation_p.S99F|ZBTB7C_uc010dol.1_Missense_Mutation_p.S59F|ZBTB7C_uc010doa.1_Missense_Mutation_p.S72F|ZBTB7C_uc010dob.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doc.1_Missense_Mutation_p.S59F|ZBTB7C_uc010dod.1_Missense_Mutation_p.S72F|ZBTB7C_uc010doe.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dof.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dog.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doh.1_Missense_Mutation_p.S59F|ZBTB7C_uc010dom.1_Missense_Mutation_p.S59F|ZBTB7C_uc010don.1_Missense_Mutation_p.S58F|ZBTB7C_uc010dop.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doq.1_Missense_Mutation_p.S59F|ZBTB7C_uc010dor.1_Missense_Mutation_p.S72F|ZBTB7C_uc010dos.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dot.1_Missense_Mutation_p.S50F|ZBTB7C_uc010doo.1_Missense_Mutation_p.S50F|ZBTB7C_uc010dou.1_Missense_Mutation_p.S59F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	50	BTB.					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						AGCCAGGACGGAGCGGTGGGT	0.597000														65			5		0	0	0.00198382	0	0
PLXND1	23129	broad.mit.edu	37	3	129304874	129304874	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:129304874G>A	uc003emx.2	-	4	1872	c.1772C>T	c.(1771-1773)aCc>aTc	p.T591I		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	591					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTGGCACTGGTCCAGAAATG	0.657000														116			32		0	0	0.00375469	0	0
VPS41	27072	broad.mit.edu	37	7	38812206	38812206	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:38812206G>A	uc003tgy.3	-	12	1070	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	VPS41_uc003tgz.3_Silent_p.I323I|VPS41_uc010kxn.3_Silent_p.I259I	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	348					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|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						TCGGACTCACGATGTAAAAAA	0.428000														26			6		0	0	0.000673444	0	0
DCHS2	54798	broad.mit.edu	37	4	155219058	155219058	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:155219058C>T	uc003inw.2	-	17	5043	c.5043G>A	c.(5041-5043)aaG>aaA	p.K1681K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1681	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAAGGAAATCTTTACATCTT	0.453000														44			5		0	0	0.000602214	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				130			32		0	0	0.000953801	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349648	36349648	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:36349648C>T	uc002ocb.4	+	3	616	c.404C>T	c.(403-405)tCt>tTt	p.S135F	KIRREL2_uc002obz.4_Missense_Mutation_p.S135F|KIRREL2_uc002oca.4_Missense_Mutation_p.S85F|KIRREL2_uc002ocd.4_Missense_Mutation_p.S132F	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	135	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTCTGTGTCTCTGGTTGCT	0.602000														81			10		0	0	0.000442599	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925346	47925346	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:47925346G>A	uc003tny.2	-	17	3177	c.3143C>T	c.(3142-3144)tCc>tTc	p.S1048F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1048	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCATCAGGGATCCCTTGCT	0.597000														89			8		0	0	0.00307968	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183439	200183439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:200183439G>A	uc009wzi.1	+	0	784	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	250					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						CATAGACACAGAGATCCCCTA	0.537000														103			10		0	0	0.00185496	0	0
IL36B	27177	broad.mit.edu	37	2	113783804	113783804	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:113783804C>T	uc002tiq.1	-	4	371	c.267G>A	c.(265-267)caG>caA	p.Q89Q		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	89					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						cttgggagccctgaagctgga	0.463000														41			5		0	0	0.00116845	0	0
PLXNB2	23654	broad.mit.edu	37	22	50718106	50718106	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:50718106G>A	uc003bkv.4	-	26	4435	c.4342C>T	c.(4342-4344)Ctc>Ttc	p.L1448F	PLXNB2_uc003bkt.1_Missense_Mutation_p.L240F|PLXNB2_uc003bku.1_Missense_Mutation_p.L433F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1448					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTCGTTGAGAGTGTACTTG	0.622000														124			16		0	0	0.00074312	0	0
DSCAM	1826	broad.mit.edu	37	21	41459101	41459101	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr21:41459101C>T	uc002yyq.1	-	21	4416	c.3964G>A	c.(3964-3966)Gac>Aac	p.D1322N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1322	Ig-like C2-type 10.				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)				GGTTACCTGTCTTTCATCCAT	0.448000														84			7		0	0	0.00307968	0	0
ORC3	23595	broad.mit.edu	37	6	88321922	88321922	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:88321922C>T	uc003pmg.3	+	7	931	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	ORC3_uc011dzl.2_Nonsense_Mutation_p.Q277*|ORC3_uc011dzm.2_Nonsense_Mutation_p.Q277*|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Nonsense_Mutation_p.Q277*|ORC3_uc011dzp.2_Nonsense_Mutation_p.Q134*|ORC3_uc011dzo.2_Nonsense_Mutation_p.Q134*	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN	Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.	277					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGAACTGTTCCAATCTTTGTC	0.363000														57			9		0	0	0.000274275	0	0
TRIM65	201292	broad.mit.edu	37	17	73887947	73887947	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:73887947G>A	uc002jpx.3	-	4	968	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	311						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGTGCCAGGGGACCTGGGGC	0.627000														17			5		0	0	0.00198382	0	0
INTS3	65123	broad.mit.edu	37	1	153713833	153713833	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:153713833C>T	uc009wom.3	+	3	528	c.307C>T	c.(307-309)Caa>Taa	p.Q103*	INTS3_uc001fct.3_Nonsense_Mutation_p.Q103*|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	103					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAACCTGCCCAAGCCCAGAA	0.483000														109			11		0	0	0.000673444	0	0
GLDN	342035	broad.mit.edu	37	15	51634223	51634223	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:51634223G>A	uc002aba.3	+	0	511	c.342G>A	c.(340-342)atG>atA	p.M114I	GLDN_uc010bez.1_Missense_Mutation_p.M114I	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	114					cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TGCTGATGATGATGACCTACT	0.706000														90			8		0	0	0.000442599	0	0
C8A	731	broad.mit.edu	37	1	57347218	57347218	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:57347218C>T	uc001cyo.2	+	4	697	c.565C>T	c.(565-567)Cga>Tga	p.R189*		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	189	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGGAGCTTCGATATGACTC	0.453000														40			16		0	0	0.000566183	0	0
HCN4	10021	broad.mit.edu	37	15	73635897	73635897	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:73635897G>A	uc002avp.3	-	1	2032	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	346					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGAGGAAATGAAATCTACCA	0.532000														47			5		0	0	0.000602214	0	0
AK094599	0	broad.mit.edu	37	2	133066857	133066857	+	RNA	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:133066857C>T	uc002ttk.1	+	1		c.56C>T								Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881.																		TTCCAGAATCCTGCCCTTTCC	0.368000														141			8		0	0	0.000673444	0	0
PARM1	25849	broad.mit.edu	37	4	75938084	75938084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:75938084C>T	uc003hih.2	+	1	746	c.493C>T	c.(493-495)Cca>Tca	p.P165S		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	165					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane		p.P165Q(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						ATCAACCTCACCACCTGAGGT	0.587000														246			19		0	0	0.00278032	0	0
LOC649330	649330	broad.mit.edu	37	1	12907694	12907694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:12907694C>T	uc010obf.2	-	1	675	c.449G>A	c.(448-450)gGa>gAa	p.G150E	LOC649330_uc009vno.2_Missense_Mutation_p.G150E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	150							nucleic acid binding|nucleotide binding										TGAGGTGTTTCCTGATAGACG	0.493000														127			49		0	0	0.00361006	0	0
SYT13	57586	broad.mit.edu	37	11	45274137	45274137	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:45274137G>A	uc001myq.2	-	3	807	c.681C>T	c.(679-681)ctC>ctT	p.L227L	SYT13_uc009yku.1_Silent_p.L83L	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	227	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCGCCAGGGGGAGCACCAGGC	0.677000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			10		0	0	0.000978159	0	0
UNC5D	137970	broad.mit.edu	37	8	35542215	35542215	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:35542215C>T	uc003xjr.2	+	5	1195	c.867C>T	c.(865-867)gcC>gcT	p.A289A	UNC5D_uc003xjs.2_Silent_p.A284A|UNC5D_uc003xjt.1_Silent_p.A58A	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	289	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity	p.M289I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATGGTGGGGCCTTTTGTGAGG	0.507000														115			11		0	0	0.00136819	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552450	21552450	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:21552450C>T	uc003cce.3	-	3	750	c.342G>A	c.(340-342)atG>atA	p.M114I	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	114						nucleus	nucleic acid binding|zinc ion binding	p.M114I(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTTATTTTTCATGGCTTCCA	0.463000														69			20		0	0	0.00152264	0	0
CACNA1E	777	broad.mit.edu	37	1	181725156	181725156	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:181725156G>A	uc009wxt.3	+	28	4249	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1352K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1333K|CACNA1E_uc001gox.1_Missense_Mutation_p.E578K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1352					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						GAAGCGCCATGAATTCCACTA	0.498000														37			7		0	0	0.00198382	0	0
SBNO1	55206	broad.mit.edu	37	12	123782562	123782562	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:123782562G>A	uc010tap.2	-	29	4002	c.4002C>T	c.(4000-4002)atC>atT	p.I1334I	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.I1333I|SBNO1_uc010taq.2_Silent_p.I285I	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1334							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTAGCCGCACGATCTGCATCT	0.433000														156			20		0	0	0.00188189	0	0
CPN2	1370	broad.mit.edu	37	3	194062184	194062184	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:194062184C>T	uc003fts.3	-	1	1338	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R	CPN2_uc021xix.1_Silent_p.R416R	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	416	LRRCT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGTTCAGGAGCCGATCGGTGT	0.617000														37			5		0	0	0.00116845	0	0
DMBT1	1755	broad.mit.edu	37	10	124402872	124402872	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:124402872C>T	uc001lgk.1	+	52	7306	c.7200C>T	c.(7198-7200)atC>atT	p.I2400I	DMBT1_uc001lgl.1_Silent_p.I2390I|DMBT1_uc001lgm.1_Silent_p.I1772I|DMBT1_uc021qaf.1_Silent_p.I2400I|DMBT1_uc021qag.1_Silent_p.I2390I|DMBT1_uc021qah.1_Silent_p.I1772I|DMBT1_uc009xzz.1_Silent_p.I2399I|DMBT1_uc010qtx.1_Silent_p.I1120I|DMBT1_uc009yab.1_Silent_p.I1103I|DMBT1_uc009yac.1_Silent_p.I694I	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2400					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGTCCCATCCAGCTGCAGA	0.647000														34			13		0	0	0.00244969	0	0
RP1	6101	broad.mit.edu	37	8	55540361	55540361	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55540361G>A	uc003xsd.1	+	3	4067	c.3919G>A	c.(3919-3921)Gat>Aat	p.D1307N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1307					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCACTTACTGATACTGTGTT	0.428000														102			19		0	0	0.00152264	0	0
PER2	8864	broad.mit.edu	37	2	239165600	239165600	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:239165600G>A	uc002vyc.3	-	16	2265	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	PER2_uc010znv.1_Silent_p.I676I	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	676	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCACATGGACGATGGTGCTGC	0.557000											OREG0015336	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			16		0	0	0.00074312	0	0
GSTA2	2939	broad.mit.edu	37	6	52617667	52617667	+	Silent	SNP	G	A	A	rs142983962		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:52617667G>A	uc003pay.3	-	4	549	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	133	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CAAAGGCAGGGAAGTAGCGAT	0.443000														263			33		0	0	0.00321405	0	0
THRSP	7069	broad.mit.edu	37	11	77775213	77775213	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:77775213G>A	uc021qnu.1	+	0	286	c.286G>A	c.(286-288)Gag>Aag	p.E96K	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Missense_Mutation_p.E96K	NM_003251	NP_003242	Q92748	THRSP_HUMAN	Homo sapiens thyroid hormone responsive (THRSP), mRNA.	96					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CGCAGAGACAGAGGAAGTCGA	0.612000														54			10		0	0	0.000442599	0	0
ASTN1	460	broad.mit.edu	37	1	176915167	176915167	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:176915167C>T	uc001glc.3	-	12	2356	c.2144G>A	c.(2143-2145)aGc>aAc	p.S715N	ASTN1_uc001glb.1_Missense_Mutation_p.S715N|ASTN1_uc001gld.1_Missense_Mutation_p.S715N|ASTN1_uc009wwx.1_Missense_Mutation_p.S715N	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	723					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						AAGCTCCCTGCTTTCCCCACA	0.537000														94			6		0	0	0.00116845	0	0
EPPK1	83481	broad.mit.edu	37	8	144941990	144941990	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:144941990C>A	uc003zaa.1	-	0	5445	c.5432G>T	c.(5431-5433)cGg>cTg	p.R1811L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1811						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATGAGCTCCCGCTTCCTGTC	0.532000														118			7		0.00198382	0.00580084	0.00198382	1	0
PLCE1	51196	broad.mit.edu	37	10	95791744	95791744	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:95791744C>T	uc001kjk.3	+	1	1575	c.941C>T	c.(940-942)gCt>gTt	p.A314V	PLCE1_uc010qnx.2_Missense_Mutation_p.A314V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	314					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAGAAGACGCTTTTAAAAGC	0.378000														65			17		0	0	0.000958276	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178822870	178822871	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:178822870_178822871CC>TT	uc001gma.3	-	3	1351_1352	c.875_876GG>AA	c.(874-876)ggg>gAA	p.G292E	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G292E|ANGPTL1_uc010pnc.1_Missense_Mutation_p.G214E	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	292	Fibrinogen C-terminal.					extracellular space	receptor binding	p.G292E(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCATATAAATCCCACTGACCGA	0.376000														90			5		0	0	6.4e-05	0	0
WNK1	65125	broad.mit.edu	37	12	978198	978198	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:978198C>T	uc021qss.1	+	8	3949	c.3306C>T	c.(3304-3306)ttC>ttT	p.F1102F	WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Silent_p.F1187F|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Silent_p.F401F	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	848					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTTCTGTTTCCCCCAAGGAA	0.463000														365			45		0	0	0.00361006	0	0
H3F3C	440093	broad.mit.edu	37	12	31944884	31944884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:31944884C>T	uc001rkr.3	-	0	292	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	73					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TGCGCGATCTCCCTCACCAAC	0.597000										HNSCC(67;0.2)				85			7		0	0	0.00307968	0	0
ABCC12	94160	broad.mit.edu	37	16	48174784	48174784	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:48174784C>T	uc002efc.1	-	3	817	c.471G>A	c.(469-471)ggG>ggA	p.G157G	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.G157G|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	157	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCCAGACTTTCCCAGAGGTCC	0.547000														72			11		0	0	0.000978159	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211152	45211152	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:45211152G>A	uc010xxd.2	+	5	1166	c.960G>A	c.(958-960)atG>atA	p.M320I		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	320										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TTGCCACGATGATCGTGCCCG	0.657000														132			12		0	0	0.00185496	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					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)	GCTGTGGAAAGAAAAGAACAA	0.428000														38			6		0	0	0.00198382	0	0
CSF1R	1436	broad.mit.edu	37	5	149452977	149452977	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:149452977G>A	uc003lrl.3	-	5	1164	c.969C>T	c.(967-969)gtC>gtT	p.V323V	CSF1R_uc011dcd.2_Silent_p.V175V|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.V323V|CSF1R_uc011dce.1_Intron	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	323	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCTCCACCATGACTTTGAGGT	0.552000														172			17		0	0	0.00121646	0	0
ZNF99	7652	broad.mit.edu	37	19	22952096	22952096	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:22952096C>T	uc021urt.1	-	1	189	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGAGCGAATTCTATGGTCACA	0.403000														75			8		0	0	0.000673444	0	0
ZNF229	7772	broad.mit.edu	37	19	44933110	44933110	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:44933110G>A	uc002oze.1	-	5	2280	c.1846C>T	c.(1846-1848)Ctt>Ttt	p.L616F	ZNF229_uc010ejk.1_Missense_Mutation_p.L270F|ZNF229_uc010ejl.1_Missense_Mutation_p.L610F	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGATGGATAAGGAGGTCGGAG	0.537000														86			5		0	0	0.00198382	0	0
CCR5	1234	broad.mit.edu	37	3	46414444	46414444	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:46414444G>A	uc003cpo.4	+	2	173	c.51G>A	c.(49-51)tcG>tcA	p.S17S	CCR5_uc010hjd.3_Silent_p.S17S|CCR5_uc021wxb.1_Silent_p.S17S	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	17					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ATTATACATCGGAGCCCTGCC	0.428000														270			19		0	0	0.000958276	0	0
MEP1B	4225	broad.mit.edu	37	18	29790487	29790487	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:29790487G>A	uc002kxj.4	+	9	990	c.943G>A	c.(943-945)Gat>Aat	p.D315N		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	315	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.F314F(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGCATTTCGATAGCAGCTC	0.408000														40			6		0	0	0.00116845	0	0
AMOT	154796	broad.mit.edu	37	X	112048229	112048229	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:112048229G>A	uc004epr.3	-	4	1740	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	AMOT_uc004eps.3_Silent_p.I165I	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	574					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCTGATCTCGGATTTCGATGT	0.547000														116			42		0	0	0.00361006	0	0
SEC61A1	29927	broad.mit.edu	37	3	127779007	127779007	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:127779007G>T	uc003ekb.3	+	5	599	c.415G>T	c.(415-417)Gac>Tac	p.D139Y	SEC61A1_uc003ekc.3_Missense_Mutation_p.D86Y|SEC61A1_uc003ekd.3_Missense_Mutation_p.D19Y	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	139					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GATGTATGGGGACCCTTCTGA	0.428000														154			38		5.44703e-19	1.61188e-18	0.00222228	1	0
PDCD11	22984	broad.mit.edu	37	10	105181256	105181256	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:105181256C>T	uc001kwy.1	+	16	2516	c.2429C>T	c.(2428-2430)aCc>aTc	p.T810I		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	810					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGGCTATCACCAGCCTCCTC	0.632000														18			4		0	0	0.000602214	0	0
DMXL1	1657	broad.mit.edu	37	5	118582703	118582703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:118582703C>T	uc010jcl.1	+	43	9117	c.8936C>T	c.(8935-8937)tCt>tTt	p.S2979F	DMXL1_uc003ksd.2_Missense_Mutation_p.S2958F|DMXL1_uc021ycw.1_Missense_Mutation_p.S2785F|DMXL1_uc010jcm.1_Non-coding_Transcript|DMXL1_uc003kse.1_Missense_Mutation_p.S132F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2958										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGGAGTCTCTCTACCTTTGGT	0.428000														66			9		0	0	0.000673444	0	0
MYH7B	57644	broad.mit.edu	37	20	33568416	33568416	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:33568416C>T	uc002xbi.2	+	7	821	c.504C>T	c.(502-504)ccC>ccT	p.P168P	MYH7B_uc010gfa.1_Silent_p.P126P	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	126	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCATCAACCCCTACAAATGGC	0.522000														195			19		0	0	0.00229938	0	0
CHRM3	1131	broad.mit.edu	37	1	240071543	240071543	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:240071543G>A	uc021plc.1	+	0	792	c.792G>A	c.(790-792)gaG>gaA	p.E264E	CHRM3_uc001hyp.3_Silent_p.E264E	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	264					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)	GTACCAAAGAGCTTGCTGGCC	0.473000														84			14		0	0	0.00244969	0	0
COG1	9382	broad.mit.edu	37	17	71189274	71189274	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:71189274C>T	uc002jjg.3	+	0	102	c.66C>T	c.(64-66)ttC>ttT	p.F22F	COG1_uc002jjf.1_Silent_p.F22F|COG1_uc002jjh.3_Silent_p.F22F	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	22					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGGCTCTTTTCGAGACGCATG	0.677000														14			9		0	0	0.000442599	0	0
MMD2	221938	broad.mit.edu	37	7	4947132	4947132	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:4947132G>A	uc003sno.4	-	6	904	c.708C>T	c.(706-708)caC>caT	p.H236H	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Silent_p.H212H|MMD2_uc010ksq.3_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	236						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GCCAGATGGCGTGGGCAAAGG	0.577000														88			10		0	0	0.000442599	0	0
TAAR6	319100	broad.mit.edu	37	6	132891983	132891983	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:132891983G>A	uc011eck.2	+	0	523	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	175						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGTCTATGACGATGGGCTGGA	0.458000														172			11		0	0	0.00185496	0	0
RP1	6101	broad.mit.edu	37	8	55540068	55540068	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55540068C>T	uc003xsd.1	+	3	3774	c.3626C>T	c.(3625-3627)tCt>tTt	p.S1209F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1209					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAGATCTTTCTGCAAATTGT	0.433000														76			14		0	0	0.00244969	0	0
IGFL2	147920	broad.mit.edu	37	19	46663975	46663975	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:46663975C>T	uc002peb.3	+	3	502	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	IGFL2_uc010xxv.2_Silent_p.L60L	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	60						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		CATCGTGTCCCTGAGCGAGAC	0.567000														263			30		0	0	0.00283554	0	0
OR2A25	392138	broad.mit.edu	37	7	143771361	143771361	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:143771361C>T	uc011ktx.2	+	0	49	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACTGGGATTTCCCATTGGCCC	0.488000														87			10		0	0	0.000673444	0	0
FAM113B	91523	broad.mit.edu	37	12	47629785	47629785	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:47629785C>T	uc001rpq.3	+	1	1464	c.939C>T	c.(937-939)ctC>ctT	p.L313L	FAM113B_uc001rpn.3_Silent_p.L313L|FAM113B_uc021qxi.1_Silent_p.L313L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	313	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					tgccgctgctcccgctcctgt	0.627000														77			10		0	0	0.000442599	0	0
BTNL9	153579	broad.mit.edu	37	5	180475174	180475174	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:180475174G>A	uc003mmt.3	+	2	588	c.357G>A	c.(355-357)caG>caA	p.Q119Q	BTNL9_uc011dhi.1_Silent_p.Q50Q	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Homo sapiens butyrophilin-like 9 (BTNL9), mRNA.	119	Ig-like V-type.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCCTGCAGCTTCACAGCA	0.602000														39			6		0	0	0.00116845	0	0
NRK	203447	broad.mit.edu	37	X	105178361	105178361	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:105178361G>A	uc004emd.3	+	19	3727	c.3424G>A	c.(3424-3426)Gat>Aat	p.D1142N	NRK_uc010npc.1_Missense_Mutation_p.D810N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1142							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AACACAATCAGATTTTTCTGC	0.443000										HNSCC(51;0.14)				45			14		0	0	0.00316338	0	0
PRKCQ	5588	broad.mit.edu	37	10	6520992	6520992	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:6520992G>A	uc001iji.1	-	10	1498	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S	PRKCQ_uc001ijj.2_Missense_Mutation_p.P439S|PRKCQ_uc009xim.2_Missense_Mutation_p.P439S|PRKCQ_uc009xin.2_Missense_Mutation_p.P403S|PRKCQ_uc010qax.2_Missense_Mutation_p.P314S	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	439	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GTCAGAAACGGATGCTCCCAG	0.473000														58			7		0	0	0.00198382	0	0
PCLO	27445	broad.mit.edu	37	7	82582185	82582185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:82582185G>A	uc003uhx.2	-	4	8373	c.8084C>T	c.(8083-8085)tCc>tTc	p.S2695F	PCLO_uc003uhv.2_Missense_Mutation_p.S2695F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2626					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATTGTTATGGAAATGCTGCT	0.413000														28			6		0	0	0.00116845	0	0
PTPRD	5789	broad.mit.edu	37	9	8484228	8484228	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:8484228T>G	uc003zkk.3	-	29	4047	c.3304A>C	c.(3304-3306)Aag>Cag	p.K1102Q	PTPRD_uc003zkp.3_Missense_Mutation_p.K691Q|PTPRD_uc003zkq.3_Missense_Mutation_p.K691Q|PTPRD_uc003zkr.3_Missense_Mutation_p.K686Q|PTPRD_uc003zks.3_Missense_Mutation_p.K681Q|PTPRD_uc022bdj.1_Missense_Mutation_p.K688Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1102	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTGCAGTCTTTGCCGTGACC	0.468000										TSP Lung(15;0.13)				61			7		0	0	0.00307968	0	0
ERC1	23085	broad.mit.edu	37	12	1299088	1299088	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:1299088G>A	uc001qjb.2	+	11	2462	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.E713K|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.E741K|ERC1_uc010sdv.1_Missense_Mutation_p.E489K|ERC1_uc009zdp.3_Missense_Mutation_p.E381K|ERC1_uc001qje.2_Non-coding_Transcript	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	741					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAGCACTTGGAGAGAGAGAT	0.448000														60			12		0	0	0.00244969	0	0
ODZ3	55714	broad.mit.edu	37	4	183609456	183609456	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:183609456G>A	uc003ivd.1	+	10	2248	c.2173G>A	c.(2173-2175)Ggc>Agc	p.G725S	ODZ3_uc003ive.1_Missense_Mutation_p.G131S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	725	EGF-like 7.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTGCAAGGATGGCAAGTGTGA	0.612000														44			6		0	0	0.00116845	0	0
FCRL3	115352	broad.mit.edu	37	1	157668209	157668209	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:157668209G>A	uc001fqz.4	-	3	555	c.263C>T	c.(262-264)tCc>tTc	p.S88F	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'Flank|FCRL3_uc001frb.3_Missense_Mutation_p.S88F|FCRL3_uc001frc.1_Missense_Mutation_p.S88F	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	88	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATCACTGAGGGAGGATCCTCG	0.463000														107			6		0	0	0.00198382	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44028410	44028410	+	RNA	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:44028410G>A	uc001zss.3	-	3		c.1371C>T								Homo sapiens cation channel, sperm associated 2 pseudogene 1 (CATSPER2P1), non-coding RNA.																		ATTGTGCAAGGAGTTTGAGAG	0.512000														199			20		0	0	0.00229938	0	0
SESN2	83667	broad.mit.edu	37	1	28595748	28595748	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:28595748C>T	uc001bps.3	+	1	541	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	49					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTTCATCCCCGTGGAGGA	0.547000														69			22		0	0	0.00188189	0	0
IRX5	10265	broad.mit.edu	37	16	54967364	54967364	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:54967364C>T	uc002ehv.3	+	2	1031	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	IRX5_uc021tin.1_Missense_Mutation_p.S343L|IRX5_uc002ehw.3_Missense_Mutation_p.S278L	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	344					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCCACATCGTCGGACAAGGTC	0.706000														27			6		0	0	0.000274275	0	0
PLCB2	5330	broad.mit.edu	37	15	40581030	40581030	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:40581030G>A	uc001zld.3	-	31	3745	c.3444C>T	c.(3442-3444)acC>acT	p.T1148T	PLCB2_uc001zlc.3_Silent_p.T132T|PLCB2_uc010bbo.3_Silent_p.T1144T|PLCB2_uc010ucm.2_Silent_p.T1133T	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	1148					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGGGAAAGCAGGTCCTGAGGC	0.627000														67			7		0	0	0.000442599	0	0
TCHH	7062	broad.mit.edu	37	1	152085441	152085441	+	Silent	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:152085441A>G	uc009wne.1	-	2	524	c.252T>C	c.(250-252)gcT>gcC	p.A84A	TCHH_uc001ezp.2_Silent_p.A84A	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	84	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding	p.Q83R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATAGTAACAAGCTTGAGCCA	0.498000														107			11		0	0	0.000978159	0	0
OR2T1	26696	broad.mit.edu	37	1	248570111	248570111	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248570111G>A	uc010pzm.2	+	0	816	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			CCCGAATCCTGACTACAGTTC	0.517000														59			16		0	0	0.00074312	0	0
ULK1	8408	broad.mit.edu	37	12	132403804	132403804	+	Silent	SNP	C	T	T	rs139624236		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:132403804C>T	uc001uje.3	+	23	2827	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	853					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CGCTGCTGTTCGTGCAGCACG	0.682000														39			5		0	0	0.00307968	0	0
DSC2	1824	broad.mit.edu	37	18	28651772	28651772	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:28651772G>A	uc002kwl.4	-	12	2378	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S	DSC2_uc002kwk.4_Missense_Mutation_p.P642S	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	642	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GAGCCAAATGGAGGATCATTC	0.348000														22			5		0	0	0.00116845	0	0
HMCN1	83872	broad.mit.edu	37	1	185972948	185972948	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:185972948C>T	uc001grq.1	+	28	4676	c.4447C>T	c.(4447-4449)Cct>Tct	p.P1483S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1483	Ig-like C2-type 12.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACTCCCTTTCCTGATATTCA	0.418000														58			7		0	0	0.000442599	0	0
SCN11A	11280	broad.mit.edu	37	3	38889190	38889190	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38889190G>A	uc021wvy.1	-	25	4570	c.4371C>T	c.(4369-4371)ttC>ttT	p.F1457F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1457					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCGTCGGAGGGAAAGGAATGT	0.493000														47			5		0	0	0.00307968	0	0
ZNF570	148268	broad.mit.edu	37	19	37975219	37975219	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:37975219C>T	uc010efl.1	+	5	982	c.863C>T	c.(862-864)tCc>tTc	p.S288F	ZNF570_uc002ogk.1_Missense_Mutation_p.S232F|ZNF570_uc010xtr.1_Missense_Mutation_p.S29F	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGTTCATCCCTTACTCTT	0.358000														199			29		0	0	0.001512	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552569	1552569	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:1552569C>T	uc010gai.3	-	2	647	c.548G>A	c.(547-549)tGg>tAg	p.W183*	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	183	Ig-like C1-type 1.				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						ATTTTTGAACCATTTCAGGGT	0.587000														94			11		0	0	0.00316338	0	0
PSG2	5670	broad.mit.edu	37	19	43579626	43579626	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43579626C>T	uc002ovr.3	-	2	761	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	197	Ig-like C2-type 1.				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)				CTGTTGGTTTCGGACAGCTGA	0.498000														276			24		0	0	0.00106085	0	0
FRS3	10817	broad.mit.edu	37	6	41738529	41738529	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:41738529G>A	uc003orc.1	-	6	1551	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	436					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGGCTCGAGGGGTTCTGGGG	0.652000														106			17		0	0	0.000958276	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679218	176679218	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:176679218G>A	uc001gkz.3	+	10	4721	c.3557G>A	c.(3556-3558)gGa>gAa	p.G1186E	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1186					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						ACTCCCAAAGGATACTTGGAT	0.463000														81			12		0	0	0.000978159	0	0
NDST3	9348	broad.mit.edu	37	4	118976018	118976018	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:118976018G>A	uc003ibx.3	+	1	1356	c.953G>A	c.(952-954)gGa>gAa	p.G318E	NDST3_uc011cgf.1_Missense_Mutation_p.G318E|NDST3_uc003ibw.3_Missense_Mutation_p.G318E	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	318	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GGAAAAGAGGGAACAAGAATG	0.393000														56			8		0	0	0.00307968	0	0
SRGAP3	9901	broad.mit.edu	37	3	9068638	9068638	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:9068638G>A	uc003brf.1	-	12	2257	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SRGAP3_uc003brg.1_Silent_p.I503I|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	527	Rho-GAP.				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)		TGATGTAACGGATGCAGCTCT	0.423000			T	RAF1	pilocytic astrocytoma									141			37		0	0	0.00361006	0	0
MARCO	8685	broad.mit.edu	37	2	119726833	119726833	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:119726833C>T	uc002tln.1	+	1	327	c.195C>T	c.(193-195)gtC>gtT	p.V65V	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	65					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGCTGGTGGTCCAAGGTAAAG	0.602000														47			10		0	0	0.000442599	0	0
MMP25	64386	broad.mit.edu	37	16	3100328	3100328	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:3100328G>A	uc002cth.3	+	3	679	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	MMP25_uc002cti.1_Missense_Mutation_p.A84T	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	148					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TGCCCTGATGGCCTGGGGCAT	0.632000														57			10		0	0	0.000442599	0	0
MS4A2	2206	broad.mit.edu	37	11	59863043	59863043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:59863043C>T	uc001nop.3	+	6	751	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	MS4A2_uc021qka.1_Missense_Mutation_p.R172C	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	217					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TCCAGAGGATCGTGTTTATGA	0.388000														40			10		0	0	0.000673444	0	0
LRP1B	53353	broad.mit.edu	37	2	141299440	141299440	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:141299440T>C	uc002tvj.1	-	43	8267	c.7295A>G	c.(7294-7296)aAc>aGc	p.N2432S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2432					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)		TGTGTACTTGTTGGACCGCAG	0.428000										TSP Lung(27;0.18)				59			5		0	0	0.000602214	0	0
SLC9C2	284525	broad.mit.edu	37	1	173569289	173569289	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:173569289G>A	uc001giz.2	-	2	618	c.195C>T	c.(193-195)ttC>ttT	p.F65F	SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	65					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GTCCTATCACGAATCCTGATA	0.343000														91			8		0	0	0.000442599	0	0
ADAM7	8756	broad.mit.edu	37	8	24349489	24349489	+	Missense_Mutation	SNP	C	T	T	rs149854879	by1000genomes	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:24349489C>T	uc003xeb.3	+	13	1543	c.1430C>T	c.(1429-1431)tCg>tTg	p.S477L	ADAM7_uc003xec.3_Missense_Mutation_p.S249L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	477	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTGGCCACTCGCCTGCCTGT	0.463000														76			11		0	0	0.000978159	0	0
EFHB	151651	broad.mit.edu	37	3	19975233	19975233	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:19975233C>T	uc003cbl.4	-	0	474	c.278G>A	c.(277-279)aGt>aAt	p.S93N	EFHB_uc003cbm.3_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	93					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AGCTGAGACACTGTCGACTCC	0.428000														140			10		0	0	0.00136819	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:146997332G>A	uc003weu.2	+	8	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	483	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423000										HNSCC(39;0.1)				64			8		0	0	0.000442599	0	0
OR11H6	122748	broad.mit.edu	37	14	20692721	20692721	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:20692721C>T	uc010tlc.2	+	0	853	c.853C>T	c.(853-855)Cca>Tca	p.P285S		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATCAGGGAACCCAGCAGGAAT	0.438000														58			7		0	0	0.00198382	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672623	113672623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:113672623C>T	uc003eau.3	+	2	537	c.238C>T	c.(238-240)Cct>Tct	p.P80S	ZDHHC23_uc003eav.3_Missense_Mutation_p.P74S	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	80						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CCTCCGAATTCCTTGGCTTAG	0.458000														89			28		0	0	0.00106085	0	0
NALCN	259232	broad.mit.edu	37	13	101714437	101714437	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:101714437C>T	uc001vox.1	-	40	4827	c.4638G>A	c.(4636-4638)aaG>aaA	p.K1546K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1546						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R1545W(1)		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)					GCTGCAAGCTCTTCCGGATGT	0.557000														34			5		0	0	0.00116845	0	0
CXCR6	10663	broad.mit.edu	37	3	45988186	45988186	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:45988186G>A	uc003cpc.1	+	1	294	c.213G>A	c.(211-213)gtG>gtA	p.V71V	FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Silent_p.V71V|CXCR6_uc021www.1_Silent_p.V71V	NM_006564	NP_006555	O00574	CXCR6_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA.	71					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGTTCCTGGTGAACCTACCCC	0.547000														126			31		0	0	0.00209593	0	0
SPNS1	83985	broad.mit.edu	37	16	28993278	28993278	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:28993278C>T	uc010vdi.1	+	7	1006	c.866C>T	c.(865-867)tCc>tTc	p.S289F	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.S216F|SPNS1_uc002dsa.2_Missense_Mutation_p.S289F|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank|LAT_uc010vdj.2_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	289					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						GTCACGGGCTCCCTGGCTCTG	0.622000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			15		0	0	0.00316338	0	0
AIM1	202	broad.mit.edu	37	6	106969219	106969219	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:106969219C>T	uc003prh.3	+	1	3824	c.2912C>T	c.(2911-2913)tCa>tTa	p.S971L		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	971							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTTATTAAATCAAACTTGCCA	0.363000														68			9		0	0	0.000442599	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282492	52282492	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:52282492C>T	uc001rzd.3	+	1	464	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	ANKRD33_uc001rzh.4_Silent_p.L96L|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGGCTGCAGGCTGGGGGCCCT	0.647000														61			7		0	0	0.00198382	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307762	46307762	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:46307762G>A	uc002pdm.3	-	2	1572	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	RSPH6A_uc002pdl.3_Silent_p.V203V	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	467						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTAGCTGACGACTGGCGTGT	0.657000														89			13		0	0	0.00185496	0	0
CD1B	910	broad.mit.edu	37	1	158300829	158300829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:158300829G>A	uc001frx.3	-	1	193	c.85C>T	c.(85-87)Cat>Tat	p.H29Y	CD1B_uc001frw.3_Missense_Mutation_p.H29Y|CD1B_uc010pic.1_Missense_Mutation_p.H29Y	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	29					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGGATAACATGAAAGGAGGTC	0.473000														277			33		0	0	0.000953801	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632456	111632456	+	Silent	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:111632456A>G	uc010hqa.3	+	2	2037	c.1626A>G	c.(1624-1626)gaA>gaG	p.E542E	PHLDB2_uc003dyc.3_Silent_p.E569E|PHLDB2_uc003dyd.3_Silent_p.E542E|PHLDB2_uc003dyg.3_Silent_p.E542E|PHLDB2_uc003dyh.3_Silent_p.E542E|PHLDB2_uc003dyi.3_Silent_p.E128E|PHLDB2_uc003dyf.4_Silent_p.E542E	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	542						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAATGATGAACTACTCAGTG	0.532000														115			29		0	0	0.00178596	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834424	101834424	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:101834424G>A	uc003knn.3	-	0	297	c.125C>T	c.(124-126)tCg>tTg	p.S42L	SLCO6A1_uc003kno.3_Missense_Mutation_p.S42L|SLCO6A1_uc003knp.3_Missense_Mutation_p.S42L|SLCO6A1_uc003knq.3_Missense_Mutation_p.S42L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	42						integral to membrane|plasma membrane	transporter activity	p.S42S(1)|p.S41F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCGGGCTTCGAGGACTTCGG	0.577000														201			23		0	0	0.00332997	0	0
CFTR	1080	broad.mit.edu	37	7	117175355	117175355	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:117175355C>T	uc003vjd.3	+	5	765	c.633C>T	c.(631-633)ctC>ctT	p.L211L	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	211	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGCACTCCTCATGGGGCTAA	0.488000									Cystic Fibrosis					169			14		0	0	0.00074312	0	0
MAP3K9	4293	broad.mit.edu	37	14	71227825	71227825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:71227825G>A	uc001xmm.3	-	2	895	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	MAP3K9_uc010ttk.2_Missense_Mutation_p.R36W|MAP3K9_uc001xmk.3_5'UTR|MAP3K9_uc001xml.3_Missense_Mutation_p.R299W	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	299	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGCCATTCCCGAGCCAGGCCA	0.507000														54			7		0	0	0.00307968	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854553	12854553	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:12854553C>T	uc001auj.2	+	2	880	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	259										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCCAAATTCAGCTCTGTGT	0.448000														194			51		0	0	0.00361006	0	0
IGSF1	3547	broad.mit.edu	37	X	130413158	130413158	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:130413158G>A	uc004ewe.4	-	10	2007	c.1724C>T	c.(1723-1725)tCt>tTt	p.S575F	IGSF1_uc004ewd.3_Intron|IGSF1_uc022cdv.1_Intron|IGSF1_uc004ewf.2_Intron	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	572					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTGCAAAAGAAATTGCTGC	0.572000														46			27		0	0	0.00395357	0	0
TTN	7273	broad.mit.edu	37	2	179584374	179584374	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179584374G>A	uc021vsy.1	-	78	20338	c.20113C>T	c.(20113-20115)Ccc>Tcc	p.P6705S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3366S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7632	Ig-like 48.						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)			TCGGCACAGGGGATTTTAAGG	0.408000														110			14		0	0	0.00244969	0	0
TPO	7173	broad.mit.edu	37	2	1440035	1440035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:1440035G>A	uc002qwr.3	+	4	447	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.E121K|TPO_uc002qww.3_Missense_Mutation_p.E121K|TPO_uc002qwx.3_Missense_Mutation_p.E121K|TPO_uc002qwu.3_Missense_Mutation_p.E121K|TPO_uc010yio.2_Missense_Mutation_p.E121K|TPO_uc010yip.2_Missense_Mutation_p.E121K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	121					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCTTTATCAGAAGATCTGCT	0.428000														74			10		0	0	0.00136819	0	0
CFHR5	81494	broad.mit.edu	37	1	196952150	196952150	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:196952150C>T	uc001gts.4	+	1	322	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	65	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCTTCAAAATCCTTTTGGACT	0.388000														64			8		0	0	0.000274275	0	0
ODZ1	10178	broad.mit.edu	37	X	123805605	123805605	+	Silent	SNP	T	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:123805605T>G	uc010nqy.3	-	5	1160	c.1096A>C	c.(1096-1098)Agg>Cgg	p.R366R	ODZ1_uc011muj.2_Silent_p.R365R|ODZ1_uc004euj.3_Silent_p.R366R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	366					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCGGTCCCCCTGTTCCCTTTG	0.438000														47			6		0	0	0.000274275	0	0
DAB1	1600	broad.mit.edu	37	1	57480937	57480937	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:57480937G>A	uc009vzx.1	-	11	1383	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	DAB1_uc001cyt.1_Missense_Mutation_p.P353S|DAB1_uc001cyq.1_Missense_Mutation_p.P353S|DAB1_uc001cyr.1_Missense_Mutation_p.P269S|DAB1_uc009vzw.1_Missense_Mutation_p.P337S|DAB1_uc001cys.1_Missense_Mutation_p.P355S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	388					cell differentiation|nervous system development			p.P355S(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCCACAGTTGGCCAGGGCTGC	0.652000														91			22		0	0	0.00106085	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515784	47515784	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:47515784C>T	uc001cqt.3	+	11	1718	c.1468C>T	c.(1468-1470)Cat>Tat	p.H490Y	CYP4X1_uc001cqr.3_Missense_Mutation_p.H489Y|CYP4X1_uc001cqs.3_Missense_Mutation_p.H425Y	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	490						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTTCCCCAACCATTTTATCCT	0.438000														103			20		0	0	0.00188189	0	0
VSTM4	196740	broad.mit.edu	37	10	50227709	50227709	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:50227709C>T	uc001jhf.2	-	7	978	c.949G>A	c.(949-951)Gag>Aag	p.E317K		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	317						integral to membrane|plasma membrane		p.E316*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCTTGTTCTCCTCGAAGAGG	0.512000														57			14		0	0	0.00244969	0	0
MUC16	94025	broad.mit.edu	37	19	9065721	9065721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9065721G>A	uc002mkp.3	-	2	21929	c.21725C>T	c.(21724-21726)tCc>tTc	p.S7242F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7244	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						GCTCAGGGAGGAAATTGACTC	0.468000														146			18		0	0	0.000566183	0	0
RFWD2	64326	broad.mit.edu	37	1	176015319	176015319	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:176015319G>A	uc001gku.1	-	11	1675	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	RFWD2_uc001gkv.1_Silent_p.I449I|RFWD2_uc001gkw.1_Silent_p.I233I|RFWD2_uc009wwv.2_Silent_p.I272I|RFWD2_uc001gkt.1_Silent_p.I312I	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	473					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTAAATACCTGATTTTCGAAT	0.318000														107			12		0	0	0.00136819	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529638	5529638	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:5529638G>A	uc021qcw.1	-	0	1151	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.S384L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	384										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)		AGATGAGGGTGACGATGGGGG	0.577000														154			17		0	0	0.00074312	0	0
SALL3	27164	broad.mit.edu	37	18	76755016	76755016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:76755016C>T	uc002lmt.3	+	1	3025	c.3025C>T	c.(3025-3027)Ctc>Ttc	p.L1009F	SALL3_uc010dra.3_Intron	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1009					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A1008T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGTCTGCGCGCTCTGCAGGCG	0.517000														73			13		0	0	0.00136819	0	0
SLC26A9	115019	broad.mit.edu	37	1	205893549	205893549	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:205893549G>A	uc001hdp.3	-	12	1572	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	SLC26A9_uc001hdo.3_Silent_p.V154V|SLC26A9_uc001hdq.3_Silent_p.V486V	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	486						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CGGAGAAGGCGACACCCACTG	0.577000														80			13		0	0	0.00316338	0	0
IBSP	3381	broad.mit.edu	37	4	88731793	88731793	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:88731793G>A	uc003hqx.4	+	5	380	c.282G>A	c.(280-282)tcG>tcA	p.S94S		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	94	Asp/Glu-rich (acidic).			S -> L (in Ref. 3; AAC37560).	biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ATGAAGAATCGAATGAAGATG	0.403000														80			13		0	0	0.00400662	0	0
BSN	8927	broad.mit.edu	37	3	49694662	49694662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:49694662C>T	uc003cxe.4	+	4	7787	c.7673C>T	c.(7672-7674)tCc>tTc	p.S2558F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2558					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGCGGCACTCCATGCCACGC	0.622000														46			8		0	0	0.000442599	0	0
LRIT1	26103	broad.mit.edu	37	10	85993963	85993963	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:85993963G>A	uc001kcz.1	-	2	783	c.761C>T	c.(760-762)cCa>cTa	p.P254L		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	254						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ATGGAGCTCTGGGCCCTGGCA	0.607000														76			21		0	0	0.00278032	0	0
OR10X1	128367	broad.mit.edu	37	1	158548961	158548961	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:158548961C>T	uc010pin.2	-	0	729	c.729G>A	c.(727-729)agG>agA	p.R243R		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGAAGGGATCCTGAGGACAG	0.453000														94			31		0	0	0.00327116	0	0
INO80	54617	broad.mit.edu	37	15	41340454	41340454	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:41340454G>A	uc001zni.3	-	21	2810	c.2597C>T	c.(2596-2598)cCa>cTa	p.P866L	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	866	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGTGCAAATGGAGAAAGAAC	0.383000														139			19		0	0	0.00229938	0	0
LARP4	113251	broad.mit.edu	37	12	50848137	50848137	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:50848137C>T	uc001rwp.2	+	9	1260	c.1058C>T	c.(1057-1059)tCg>tTg	p.S353L	LARP4_uc001rwq.2_Missense_Mutation_p.S282L|LARP4_uc001rwt.2_Missense_Mutation_p.S282L|LARP4_uc001rws.2_Missense_Mutation_p.S352L|LARP4_uc001rwr.2_Missense_Mutation_p.S353L|LARP4_uc021qxv.1_Missense_Mutation_p.S283L|LARP4_uc009zlr.1_Missense_Mutation_p.S172L|LARP4_uc001rwm.3_Missense_Mutation_p.S353L|LARP4_uc001rwn.3_Missense_Mutation_p.S283L	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	353							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GGCTTTAATTCGCCAGGATCT	0.343000														59			7		0	0	0.00198382	0	0
MFSD5	84975	broad.mit.edu	37	12	53647946	53647946	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:53647946G>T	uc001sch.2	+	1	1795	c.1648G>T	c.(1648-1650)Gag>Tag	p.E550*	MFSD5_uc001sci.2_Nonsense_Mutation_p.E443*|MFSD5_uc021qye.1_Nonsense_Mutation_p.E443*	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	443					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCACCTACTGAGGAGCCCTA	0.547000														70			9		6.42651e-13	1.89944e-12	0.000978159	1	0
PLXND1	23129	broad.mit.edu	37	3	129286547	129286547	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:129286547G>A	uc003emx.2	-	20	4067	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PLXND1_uc011blb.1_5'Flank|U7_uc021xdx.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1323					axon guidance	integral to membrane|intracellular|plasma membrane		p.R1323H(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTACCTTTGCGGATTTCCTCT	0.612000														28			7		0	0	0.00307968	0	0
OR7G2	390882	broad.mit.edu	37	19	9213846	9213846	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9213846G>A	uc010xkk.2	-	0	137	c.137C>T	c.(136-138)cCc>cTc	p.P46L		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GAAAAGGACGGGCTGCAGTTC	0.502000														71			7		0	0	0.000274275	0	0
OR2G2	81470	broad.mit.edu	37	1	247752313	247752313	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:247752313C>T	uc010pyy.2	+	0	652	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCATTCATCCTGGTCTCCTC	0.517000														102			7		0	0	0.00198382	0	0
WDR12	55759	broad.mit.edu	37	2	203748933	203748933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:203748933G>A	uc002uzl.3	-	9	1726	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	326	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TTAGTTCGGGGATCCCACAGT	0.373000														408			52		0	0	0.00361006	0	0
RSPO2	340419	broad.mit.edu	37	8	108973025	108973025	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:108973025C>T	uc003yms.3	-	3	962	c.304G>A	c.(304-306)Gat>Aat	p.D102N	RSPO2_uc003ymq.3_Missense_Mutation_p.D35N|RSPO2_uc003ymr.3_Missense_Mutation_p.D39N	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	102					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AAGCAAGAATCACAGTTTTCT	0.303000														17			5		0	0	0.000602214	0	0
LCP2	3937	broad.mit.edu	37	5	169702336	169702336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:169702336G>A	uc003man.1	-	4	481	c.274C>T	c.(274-276)Cct>Tct	p.P92S	LCP2_uc011det.1_5'UTR	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	92					T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GTCTCTTCAGGAAACCGCGGG	0.493000														76			8		0	0	0.000673444	0	0
TANC2	26115	broad.mit.edu	37	17	61498732	61498732	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:61498732C>T	uc002jal.4	+	24	5412	c.5389C>T	c.(5389-5391)Ccg>Tcg	p.P1797S	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.P908S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1797							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAACCTAACTCCGACCTTCCG	0.542000														28			4		0	0	0.000602214	0	0
DBF4	10926	broad.mit.edu	37	7	87537097	87537097	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:87537097G>T	uc003ujf.1	+	11	2148	c.1644G>T	c.(1642-1644)aaG>aaT	p.K548N	DBF4_uc003ujh.1_Missense_Mutation_p.K288N|DBF4_uc003ujg.1_Missense_Mutation_p.K324N|DBF4_uc011khf.1_Missense_Mutation_p.K315N	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	548					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TTCAGGCAAAGGCTCCATTCC	0.368000														100			10		3.07112e-06	9.06623e-06	0.000978159	1	0
OR9A4	130075	broad.mit.edu	37	7	141618810	141618810	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:141618810C>T	uc003vwu.1	+	0	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CAGTCATCATCATGATTGTCT	0.458000														158			26		0	0	0.000720815	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711590	140711590	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140711590G>A	uc003lji.2	+	0	1339	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D447N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	449	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATATCAATGACAACTCCCC	0.468000														106			8		0	0	0.00136819	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349938	21349938	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:21349938C>T	uc001req.4	+	7	890	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	262					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GGCTTAATTTCCTTGTGTCTG	0.363000														84			8		0	0	0.00307968	0	0
SOX2	6657	broad.mit.edu	37	3	181431045	181431045	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:181431045G>A	uc003fkx.3	+	0	1334	c.897G>A	c.(895-897)caG>caA	p.Q299Q	SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA.	299					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			AGCACTACCAGAGCGGCCCGG	0.642000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME							13			4		0	0	0.00024832	0	0
IFT88	8100	broad.mit.edu	37	13	21166490	21166490	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:21166490C>T	uc001unh.3	+	8	768	c.372C>T	c.(370-372)ccC>ccT	p.P124P	IFT88_uc001uni.3_Silent_p.P115P|IFT88_uc001unj.3_Silent_p.P114P|IFT88_uc010tcq.2_Silent_p.P95P	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	124					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CATTTGACCCCCTTAGTCAGT	0.378000														72			10		0	0	0.00185496	0	0
ILDR1	286676	broad.mit.edu	37	3	121712078	121712078	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:121712078C>T	uc003ees.3	-	6	1721	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	ILDR1_uc003eeq.3_Silent_p.E474E|ILDR1_uc003eer.3_Silent_p.E462E|ILDR1_uc010hrg.3_Silent_p.E417E	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	506						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCGGCTTCTCCTCGGGCCAGT	0.642000														25			5		0	0	0.00198382	0	0
GRID2	2895	broad.mit.edu	37	4	94137913	94137913	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:94137913G>A	uc011cdt.2	+	5	1072	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	GRID2_uc010ikx.3_Missense_Mutation_p.E272K|GRID2_uc011cdu.2_Missense_Mutation_p.E177K|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	272					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACGTACAGGAACTTGTAAG	0.388000														69			5		0	0	0.00116845	0	0
ADAM18	8749	broad.mit.edu	37	8	39506007	39506007	+	Silent	SNP	T	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:39506007T>C	uc003xni.3	+	11	1246	c.1191T>C	c.(1189-1191)atT>atC	p.I397I	ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Silent_p.I373I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	397	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTAATGGGATTTTGGAATCCA	0.308000														24			4		0	0	0.000602214	0	0
PIRT	644139	broad.mit.edu	37	17	10728815	10728815	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10728815C>T	uc010col.3	-	1	443	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	PIRT_uc021tqe.1_Missense_Mutation_p.E50K	NM_001101387	NP_001094857	P0C851	PIRT_HUMAN	Homo sapiens phosphoinositide-interacting regulator of transient receptor potential channels (PIRT), mRNA.	50						integral to membrane		p.E50V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CGGTAGATTTCCCAGTTACTC	0.592000														23			5		0	0	0.000602214	0	0
IFT80	57560	broad.mit.edu	37	3	160000378	160000378	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:160000378C>T	uc021xgr.1	-	12	1450	c.1404G>A	c.(1402-1404)ctG>ctA	p.L468L	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Silent_p.L331L|IFT80_uc021xgq.1_Silent_p.L466L|IFT80_uc003fde.2_Silent_p.L331L|IFT80_uc003fdd.2_Silent_p.L151L	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	468						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTTTTGATCCAGAGCAATTT	0.269000														47			7		0	0	0.000274275	0	0
KDM5D	8284	broad.mit.edu	37	Y	21878556	21878556	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrY:21878556G>A	uc004fug.3	-	13	2050	c.1762C>T	c.(1762-1764)Cct>Tct	p.P588S	KDM5D_uc011naz.2_Missense_Mutation_p.P619S|KDM5D_uc010nwy.3_Missense_Mutation_p.P531S|KDM5D_uc011nba.1_Missense_Mutation_p.P588S|KDM5D_uc004fuf.3_5'Flank	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	588	JmjC.				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TAAGCACGAGGAAAAGTGATG	0.478000														18			7		0	0	0.00198382	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139857	55139857	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:55139857C>T	uc003han.4	+	9	1849	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Silent_p.L400L|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	506	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTAAGAATCTCCTTGGAGCTG	0.592000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				67			8		0	0	0.00307968	0	0
HAUS6	54801	broad.mit.edu	37	9	19070246	19070246	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:19070246G>A	uc003znk.3	-	11	1600	c.1347C>T	c.(1345-1347)acC>acT	p.T449T	HAUS6_uc011lmz.2_Silent_p.T169T|HAUS6_uc022bdv.1_Silent_p.T313T|HAUS6_uc003znl.1_Silent_p.T313T|HAUS6_uc003znm.1_Silent_p.T204T	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	449					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCTCCCAAGGTATCACTGT	0.299000														42			6		0	0	0.00307968	0	0
STARD6	147323	broad.mit.edu	37	18	51855788	51855788	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:51855788T>A	uc010xdt.2	-	4	408	c.408A>T	c.(406-408)gaA>gaT	p.E136D		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	136	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATGGAGGATATTCTGGAAAAT	0.313000														183			26		0	0	0.00395357	0	0
BCMO1	53630	broad.mit.edu	37	16	81303947	81303947	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:81303947G>A	uc002fgn.1	+	6	1245	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	BCMO1_uc010vnp.1_Missense_Mutation_p.D274N	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	343					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CCTGAACCAGGACTTCAAGGA	0.577000														74			14		0	0	0.00244969	0	0
DNAH8	1769	broad.mit.edu	37	6	38738242	38738242	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:38738242A>T	uc021yzh.1	+	11	1780	c.1671A>T	c.(1669-1671)aaA>aaT	p.K557N	DNAH8_uc003ooe.2_Missense_Mutation_p.K340N	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAAGGAAACTGATTTCAG	0.323000														47			8		0	0	0.000673444	0	0
SPEG	10290	broad.mit.edu	37	2	220354184	220354184	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:220354184C>T	uc010fwg.3	+	35	8444	c.8444C>T	c.(8443-8445)cCg>cTg	p.P2815L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2815	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCACACCCCCGTCAGTCACT	0.667000														37			5		0	0	0.00198382	0	0
abParts	0	broad.mit.edu	37	22	22673457	22673457	+	RNA	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:22673457C>T	uc021wml.1	+	34		c.3121C>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTCTGGAGTTCCCAGCCGCTT	0.542000														81			9		0	0	0.000274275	0	0
FGD2	221472	broad.mit.edu	37	6	36995249	36995249	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:36995249C>T	uc010jwp.1	+	14	1821	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	FGD2_uc003ong.2_Silent_p.F272F|FGD2_uc011dtv.1_Silent_p.F178F|FGD2_uc003onj.1_Silent_p.F127F	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	550	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGTGCAGCTTCCTGCAGCTCA	0.617000														116			15		0	0	0.00316338	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280882	105280882	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:105280882C>T	uc010npd.3	-	0	403	c.168G>A	c.(166-168)agG>agA	p.R56R	SERPINA7_uc004eme.2_Silent_p.R56R|SERPINA7_uc010npe.2_Silent_p.R56R	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	56					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCACAGTGAACCTCCGGTACA	0.473000														28			9		0	0	0.000442599	0	0
KCNIP1	30820	broad.mit.edu	37	5	170149737	170149737	+	Silent	SNP	G	A	A	rs147147696	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:170149737G>A	uc003mas.3	+	5	910	c.381G>A	c.(379-381)tcG>tcA	p.S127S	KCNIP1_uc003map.3_Silent_p.S125S|KCNIP1_uc003mat.3_Silent_p.S116S|KCNIP1_uc010jjp.3_Silent_p.S88S|KCNIP1_uc010jjq.3_Silent_p.S141S	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	127	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.S127S(2)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGCTCTGTCGATTTTATTGA	0.438000														42			5		0	0	0.00116845	0	0
KCNH7	90134	broad.mit.edu	37	2	163393492	163393492	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:163393492C>T	uc002uch.2	-	2	635	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	KCNH7_uc002uci.3_Missense_Mutation_p.E136K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	136	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCAGCGTTTTCATTATCCGTC	0.383000														61			11		0	0	0.00136819	0	0
SGMS1	259230	broad.mit.edu	37	10	52103748	52103748	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:52103748C>T	uc001jje.3	-	6	1081	c.127G>A	c.(127-129)Gat>Aat	p.D43N	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.D43N|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.D43N|SGMS1_uc021pqo.1_Missense_Mutation_p.D43N|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	49	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTTTTGAAATCCTCTTGGGTT	0.512000														73			18		0	0	0.000958276	0	0
BLZF1	8548	broad.mit.edu	37	1	169346025	169346025	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:169346025C>T	uc001gfx.2	+	2	713	c.276C>T	c.(274-276)atC>atT	p.I92I	BLZF1_uc001gfw.3_Silent_p.I92I|BLZF1_uc001gfy.3_Silent_p.I92I|BLZF1_uc009wvp.1_Silent_p.I69I	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	92					Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CTCATGATATCCCCAACAAAA	0.403000														40			4		0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179568985	179568985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179568985C>T	uc021vsy.1	-	102	26605	c.26380G>A	c.(26380-26382)Gtg>Atg	p.V8794M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V5455M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9721	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P8794Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGTTCCACTTCTGTTTTA	0.408000														88			9		0	0	0.000442599	0	0
PEX5L	51555	broad.mit.edu	37	3	179593220	179593220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:179593220C>T	uc003fki.1	-	5	681	c.551G>A	c.(550-552)gGa>gAa	p.G184E	PEX5L_uc011bqd.1_Missense_Mutation_p.G141E|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.G76E|PEX5L_uc003fkj.1_Missense_Mutation_p.G149E|PEX5L_uc010hxd.1_Missense_Mutation_p.G182E|PEX5L_uc011bqg.1_Missense_Mutation_p.G160E|PEX5L_uc011bqh.1_Missense_Mutation_p.G125E	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	184					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTTCGATCTCCATGAAACTT	0.453000														63			11		0	0	0.000978159	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925489	4925489	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrY:4925489G>A	uc004fqo.3	+	0	1359	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	PCDH11Y_uc010nwg.1_Missense_Mutation_p.E198K|PCDH11Y_uc004fql.1_Missense_Mutation_p.E198K|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E198K|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E209K	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	209	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCAAAACTACGAACTAATTAA	0.308000														16			4		0	0	0.000602214	0	0
DPEP1	1800	broad.mit.edu	37	16	89703005	89703005	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:89703005C>T	uc010cin.3	+	4	638	c.435C>T	c.(433-435)tcC>tcT	p.S145S	DPEP1_uc002fnr.4_Silent_p.S145S|DPEP1_uc002fns.4_Silent_p.S145S	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	145					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCGGCCACTCCATTGACAGCA	0.672000														73			7		0	0	0.000274275	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184861	175184861	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:175184861C>T	uc003fit.3	+	7	1509	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	NAALADL2_uc003fiu.1_Silent_p.I467I|NAALADL2_uc010hwy.1_Silent_p.I248I|NAALADL2_uc010hwz.1_Silent_p.I68I	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	474					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAGCGTTTATCCGTGCCTTGA	0.438000														148			47		0	0	0.00361006	0	0
KL	9365	broad.mit.edu	37	13	33638031	33638031	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:33638031C>T	uc001uus.3	+	4	2755	c.2747C>T	c.(2746-2748)tCg>tTg	p.S916L		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	916	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTGCTTATTCGTTTAACGAC	0.418000														182			19		0	0	0.00188189	0	0
CHL1	10752	broad.mit.edu	37	3	391091	391091	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:391091G>C	uc003bot.3	+	9	1540	c.898G>C	c.(898-900)Ggg>Cgg	p.G300R	CHL1_uc003bou.3_Missense_Mutation_p.G284R|CHL1_uc003bow.2_Missense_Mutation_p.G284R|CHL1_uc011asi.2_Missense_Mutation_p.G300R	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	284	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTACCAAAGGGGAGAGAAAC	0.368000														27			6		0	0	0.00116845	0	0
WDR48	57599	broad.mit.edu	37	3	39116403	39116403	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:39116403C>T	uc003cit.3	+	7	869	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WDR48_uc011ayt.1_Missense_Mutation_p.R278W|WDR48_uc011ayu.1_Missense_Mutation_p.R205W|WDR48_uc011ayv.1_Missense_Mutation_p.R79W|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	287					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCTGACATTCGGGTGCTAAT	0.383000														68			6		0	0	0.00116845	0	0
CD84	8832	broad.mit.edu	37	1	160520779	160520779	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:160520779C>T	uc001fwh.4	-	5	937	c.858G>A	c.(856-858)agG>agA	p.R286R	CD84_uc001fwf.4_Silent_p.R269R|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Silent_p.R155R|CD84_uc001fwg.4_Silent_p.R280R	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	286					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCTGGGTGTTCCTTGAAGCCA	0.443000														435			29		0	0	0.00283554	0	0
STAT3	6774	broad.mit.edu	37	17	40474352	40474352	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:40474352G>A	uc002hzl.1	-	20	2289	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F	STAT3_uc002hzk.1_Silent_p.F683F|STAT3_uc002hzm.1_Silent_p.F683F|STAT3_uc010wgh.1_Silent_p.F585F|STAT3_uc002hzn.1_Silent_p.F683F	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	683					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.F683L(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATACTTTCCGAATGCCTCCT	0.458000									Hyperimmunoglobulin E Recurrent Infection Syndrome					120			15		0	0	0.00400662	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127433	3127433	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:3127433A>G	uc021vzx.1	-	0	2284	c.2284T>C	c.(2284-2286)Tct>Cct	p.S762P	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.S762P	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	762					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CAGAGAGCAGAGGTGAATACT	0.428000														111			15		0	0	0.000958276	0	0
ADAM28	10863	broad.mit.edu	37	8	24187570	24187570	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:24187570C>T	uc003xdy.3	+	10	1128	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ADAM28_uc003xdx.3_Missense_Mutation_p.H349Y|ADAM28_uc011kzz.2_Missense_Mutation_p.H116Y|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.H36Y	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	349	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.H349Y(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGAATGTTTCATGACGACTA	0.458000														40			5		0	0	0.000602214	0	0
FSTL5	56884	broad.mit.edu	37	4	162376222	162376222	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:162376222C>T	uc003iqh.3	-	14	2211	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	FSTL5_uc003iqi.3_Missense_Mutation_p.G591E|FSTL5_uc010iqv.3_Missense_Mutation_p.G582E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	592						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAATTGCTTTCCCACTGGTTG	0.438000														32			4		0	0	0.000602214	0	0
DNAH2	146754	broad.mit.edu	37	17	7673685	7673685	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:7673685G>A	uc002giu.1	+	23	4071	c.4057G>A	c.(4057-4059)Gag>Aag	p.E1353K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1353	Stem (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)				GAAAATTGGGGAGATCTCTGC	0.542000														52			7		0	0	0.000442599	0	0
KCNK9	51305	broad.mit.edu	37	8	140630697	140630697	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:140630697C>T	uc003yvf.1	-	1	993	c.929G>A	c.(928-930)cGc>cAc	p.R310H	KCNK9_uc003yvg.1_Missense_Mutation_p.R310H|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	310						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.R310H(2)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TGCCACCGAGCGGCCGCCATA	0.622000														88			10		0	0	0.000673444	0	0
TMC5	79838	broad.mit.edu	37	16	19490830	19490830	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:19490830C>T	uc002dgc.4	+	13	2996	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	TMC5_uc010vaq.2_Silent_p.F697F|TMC5_uc002dgb.4_Silent_p.F749F|TMC5_uc010var.2_Silent_p.F749F|TMC5_uc002dgd.1_Silent_p.F503F|TMC5_uc002dge.4_Silent_p.F503F|TMC5_uc002dgf.4_Silent_p.F432F|TMC5_uc002dgg.4_Silent_p.F390F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	749						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATTCCTTCCTGGGGGAGT	0.468000														150			13		0	0	0.00136819	0	0
CDH16	1014	broad.mit.edu	37	16	66943997	66943997	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:66943997C>T	uc002eql.3	-	16	2362	c.2168_splice	c.e16-1	p.G723_splice	CDH16_uc010cdy.3_Splice_Site_p.G701_splice|CDH16_uc021tjx.1_Splice_Site_p.G684_splice|CDH16_uc002eqm.3_Splice_Site_p.G626_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	723	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCATGGGAACCTTTTGGGACA	0.617000														50			5		0	0	0.000602214	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284880	125284880	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:125284880C>T	uc010flu.3	+	9	1860	c.1496C>T	c.(1495-1497)aCc>aTc	p.T499I	CNTNAP5_uc002tno.3_Missense_Mutation_p.T498I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	498	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAATCTCACCGATTCCCAA	0.453000														46			7		0	0	0.00307968	0	0
INSRR	3645	broad.mit.edu	37	1	156813018	156813018	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:156813018G>A	uc010pht.2	-	16	3203	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	968					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTCATCAGGGACATACACTG	0.567000														25			6		0	0	0.00198382	0	0
SORCS1	114815	broad.mit.edu	37	10	108439046	108439046	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:108439046C>T	uc001kyl.3	-	11	1890	c.1708G>A	c.(1708-1710)Gtc>Atc	p.V570I	SORCS1_uc021pxw.1_Missense_Mutation_p.V570I|SORCS1_uc009xxs.3_Missense_Mutation_p.V570I|SORCS1_uc001kym.3_Missense_Mutation_p.V570I|SORCS1_uc001kyn.2_Missense_Mutation_p.V570I|SORCS1_uc001kyo.3_Missense_Mutation_p.V570I	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	570						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)		TCTGAAGAGACAAACATGCTG	0.398000														71			12		0	0	0.00185496	0	0
MYOM3	127294	broad.mit.edu	37	1	24424448	24424448	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:24424448C>T	uc001bin.4	-	6	873	c.710G>A	c.(709-711)gGc>gAc	p.G237D	MYOM3_uc001bim.4_5'Flank|MYOM3_uc001bio.3_Missense_Mutation_p.G237D|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	237	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGAGGCCTGGCCGTGGGCGTT	0.592000														212			47		0	0	0.00361006	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573038	140573038	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140573038G>A	uc003lix.3	+	0	1087	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	305	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTCTCAGAGAATTGCTTGA	0.363000														55			7		0	0	0.00198382	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708428	37708428	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:37708428G>A	uc004aag.1	+	3	336	c.292G>A	c.(292-294)Gat>Aat	p.D98N	FRMPD1_uc004aah.1_Missense_Mutation_p.D98N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	98	PDZ.					cytoskeleton|cytosol|plasma membrane		p.D98N(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTTCCCTGGTGATCAGATCCT	0.483000														122			9		0	0	0.000978159	0	0
GPR26	2849	broad.mit.edu	37	10	125447529	125447529	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:125447529C>T	uc001lhh.3	+	2	920	c.867C>T	c.(865-867)tcC>tcT	p.S289S		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	289					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGGCCGCATCCGACCCCTTTG	0.602000														84			11		0	0	0.000978159	0	0
CCR2	729230	broad.mit.edu	37	3	46399868	46399868	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:46399868G>A	uc003cpn.4	+	1	1335	c.850G>A	c.(850-852)Gac>Aac	p.D284N	CCR2_uc003cpm.4_Missense_Mutation_p.D284N|CCR2_uc021wxa.1_Missense_Mutation_p.D284N	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	284					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CAGTCAACTGGACCAAGCCAC	0.473000														147			34		0	0	0.00283554	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337320	115337320	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:115337320G>A	uc011lwx.1	+	1	1135	c.960G>A	c.(958-960)caG>caA	p.Q320Q	KIAA1958_uc004bgf.1_Silent_p.Q320Q	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	320										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTAACAAACAGATCAGTATCC	0.552000														225			21		0	0	0.00188189	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493244	20493244	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:20493244C>T	uc002wrz.3	-	31	4912	c.4769G>A	c.(4768-4770)gGg>gAg	p.G1590E	RALGAPA2_uc002wry.3_Missense_Mutation_p.G1205E|RALGAPA2_uc010zsg.2_Missense_Mutation_p.G1038E|RALGAPA2_uc002wsa.1_Missense_Mutation_p.G362E	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1590					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGAGGGCTGCCCTTGGCTGGT	0.463000														33			6		0	0	0.00116845	0	0
GABRB3	2562	broad.mit.edu	37	15	26806161	26806161	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:26806161C>T	uc001zbb.3	-	8	1269	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	GABRB3_uc021sgg.1_Missense_Mutation_p.G262E|GABRB3_uc021sgh.1_Missense_Mutation_p.G248E|GABRB3_uc001zaz.3_Missense_Mutation_p.G333E|GABRB3_uc001zba.3_Missense_Mutation_p.G333E	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	333					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGGCCTCTTCCAAAGAAAAT	0.488000														73			9		0	0	0.000274275	0	0
ZNF701	55762	broad.mit.edu	37	19	53085900	53085900	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:53085900C>T	uc010ydn.2	+	4	849	c.786C>T	c.(784-786)ttC>ttT	p.F262F	ZNF701_uc002pzs.2_Silent_p.F196F|ZNF701_uc021uyw.1_Silent_p.F262F	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGAATAATTTCCTCCAGTCTT	0.388000														50			9		0	0	0.000274275	0	0
COL4A5	1287	broad.mit.edu	37	X	107924160	107924160	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:107924160G>A	uc022ccg.1	+	45	4263	c.4061G>A	c.(4060-4062)gGg>gAg	p.G1354E	COL4A5_uc004enz.1_Missense_Mutation_p.G1348E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1348	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTGAGGGGGAACCGGGA	0.443000									Alport syndrome with Diffuse Leiomyomatosis					28			8		0	0	0.000673444	0	0
KIF23	9493	broad.mit.edu	37	15	69737184	69737184	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:69737184C>T	uc002asb.3	+	18	2613	c.2435C>T	c.(2434-2436)tCa>tTa	p.S812L	KIF23_uc002asc.3_Missense_Mutation_p.S708L|KIF23_uc010bii.3_Intron|KIF23_uc010ukc.2_Missense_Mutation_p.S525L	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	812					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CACAGACGATCACGCTCTGCA	0.453000														60			6		0	0	0.00116845	0	0
ABCG8	64241	broad.mit.edu	37	2	44099249	44099249	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:44099249G>A	uc002rtq.3	+	6	1189	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	ABCG8_uc010yoa.2_Missense_Mutation_p.D367N	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	367					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.K366K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAGACGAAGGATCTTGACGA	0.547000														455			52		0	0	0.00361006	0	0
C6orf89	221477	broad.mit.edu	37	6	36887380	36887380	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:36887380C>T	uc003omw.3	+	6	1036	c.873C>T	c.(871-873)atC>atT	p.I291I	C6orf89_uc003omv.3_Silent_p.I178I|C6orf89_uc003omx.3_Silent_p.I284I|C6orf89_uc011dtr.2_Silent_p.I178I	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	284						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACCTATTTATCATTGGCAGCG	0.483000														137			12		0	0	0.00244969	0	0
abParts	0	broad.mit.edu	37	22	22453345	22453345	+	RNA	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:22453345G>A	uc021wml.1	+	6		c.466G>A								Parts of antibodies, mostly variable regions.																		GGTGACCCAGGAGCCATCGTT	0.517000														49			6		0	0	0.00198382	0	0
ABCB7	22	broad.mit.edu	37	X	74296471	74296471	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:74296471G>A	uc004ebz.3	-	4	500	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	ABCB7_uc010nlt.3_Missense_Mutation_p.P118S|ABCB7_uc004eca.3_Missense_Mutation_p.P158S|ABCB7_uc011mqn.2_Missense_Mutation_p.P132S|ABCB7_uc010nls.3_Missense_Mutation_p.P119S	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	158	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AACATGAAGGGAACCACAATA	0.348000														13			6		0	0	0.00198382	0	0
OTOA	146183	broad.mit.edu	37	16	21737937	21737937	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:21737937C>T	uc002djh.3	+	17	1975	c.1974C>T	c.(1972-1974)tcC>tcT	p.S658S	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.S579S|OTOA_uc002dji.3_Silent_p.S334S|OTOA_uc010vbk.2_Silent_p.S306S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	672					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTTTAGATTCCCACAAAAAGA	0.557000														121			7		0	0	0.00198382	0	0
RP1	6101	broad.mit.edu	37	8	55540803	55540803	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55540803G>A	uc003xsd.1	+	3	4509	c.4361G>A	c.(4360-4362)aGc>aAc	p.S1454N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1454					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACCAACAGCATGACATCA	0.358000														38			5		0	0	0.000602214	0	0
LPPR1	54886	broad.mit.edu	37	9	104048436	104048436	+	Silent	SNP	C	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:104048436C>A	uc004bbb.3	+	3	702	c.303C>A	c.(301-303)tcC>tcA	p.S101S	LPPR1_uc011lvi.2_Silent_p.S77S|LPPR1_uc004bbc.3_Silent_p.S101S|LPPR1_uc010mtc.3_Silent_p.S85S	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	101						integral to membrane	catalytic activity										CAAGAGAATCCCTGATTGCTC	0.383000														55			7		8.12818e-05	0.000239093	0.00198382	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141445257	141445257	+	Silent	SNP	G	A	A	rs138528079	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:141445257G>A	uc003yvh.2	-	3	1122	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	TRAPPC9_uc003yvj.2_Silent_p.F271F|TRAPPC9_uc003yvi.1_Silent_p.F271F	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	271					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TGCTGCCCTGGAACCTCCGAG	0.527000														108			18		0	0	0.00121646	0	0
DIP2B	57609	broad.mit.edu	37	12	51079696	51079696	+	Silent	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:51079696A>G	uc001rwv.3	+	10	1554	c.1398A>G	c.(1396-1398)aaA>aaG	p.K466K	DIP2B_uc009zlt.3_5'UTR	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	466						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTGTCTAAAAGGACTGCCAA	0.378000														54			8		0	0	0.000274275	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042883	75042883	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:75042883C>T	uc002ayr.1	+	1	868	c.804C>T	c.(802-804)gtC>gtT	p.V268V		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	268					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGAAAACAGTCCAGGAGCACT	0.612000														66			7		0	0	0.00198382	0	0
SSX3	10214	broad.mit.edu	37	X	48214653	48214653	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:48214653G>A	uc004djd.1	-	1	126	c.32C>T	c.(31-33)cCc>cTc	p.P11L	SSX3_uc004dje.3_Missense_Mutation_p.P11L|SSX3_uc010nic.3_Missense_Mutation_p.P11L	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						ACCAACCGTGGGTCTCCTTGC	0.527000														79			28		0	0	0.00428921	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Missense_Mutation	SNP	C	T	T	rs144099662	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:168726189C>T	uc021vsc.1	+	0	640	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	B3GALT1_uc002udz.1_Missense_Mutation_p.R214W	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	214					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R214R(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGGACCGATTCGGGATGTCCG	0.438000														47			5		0	0	0.000602214	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095455	103095455	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:103095455C>T	uc002tbz.4	+	1	871	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	138					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.P137P(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGCCACCCATCGTTCTGGAGG	0.612000														66			8		0	0	0.000442599	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75737609	75737609	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:75737609G>A	uc001sxo.3	+	1	357	c.311G>A	c.(310-312)gGa>gAa	p.G104E	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.3_Missense_Mutation_p.G104E	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 1 (GLIPR1L1), mRNA.	104						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TGGTTAGGTGGAATAAAGTCA	0.363000														38			7		0	0	0.00307968	0	0
VN1R2	317701	broad.mit.edu	37	19	53762333	53762333	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:53762333G>A	uc002qbi.2	+	0	789	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	235					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.W235L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTGGCAAATGGAGCAACAACA	0.423000														73			15		0	0	0.00244969	0	0
OR6F1	343169	broad.mit.edu	37	1	247875903	247875903	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:247875903G>A	uc001idj.1	-	0	155	c.155C>T	c.(154-156)tCc>tTc	p.S52F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	52					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)			CAACTGATGGGAGGTGCTCAC	0.473000														95			15		0	0	0.00244969	0	0
FCER1A	2205	broad.mit.edu	37	1	159277548	159277548	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:159277548G>A	uc001ftq.3	+	5	697	c.600G>A	c.(598-600)gaG>gaA	p.E200E		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	200						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTCCGCGTGAGAAGTACTGGC	0.413000														78			8		0	0	0.000673444	0	0
NAGPA	51172	broad.mit.edu	37	16	5075614	5075614	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:5075614C>G	uc002cyg.3	-	9	1440	c.1413G>C	c.(1411-1413)ttG>ttC	p.L471F	NAGPA_uc010buc.3_Missense_Mutation_p.L168F|NAGPA_uc002cyh.3_Non-coding_Transcript	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA.	471					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	TGGACAGGAGCAAGGACAGGT	0.637000														41			6		0	0	0.00116845	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607505	31607505	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:31607505C>T	uc002wyj.3	+	10	1223	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	343						extracellular region	lipid binding										TCGTGGAGGTCCTGGCCACAG	0.637000														32			6		0	0	0.00116845	0	0
LILRB5	10990	broad.mit.edu	37	19	54760148	54760148	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:54760148C>T	uc010yer.1	-	3	497	c.386G>A	c.(385-387)gGa>gAa	p.G129E	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.G138E|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Missense_Mutation_p.G138E|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	138	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.L129L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACATTTCCTCCTGAGGC	0.542000														99			14		0	0	0.000566183	0	0
RGS7	6000	broad.mit.edu	37	1	240975321	240975321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:240975321C>T	uc001hyt.2	-	6	529	c.475G>A	c.(475-477)Gta>Ata	p.V159I	RGS7_uc010pyh.2_Missense_Mutation_p.V301I|RGS7_uc010pyj.1_Missense_Mutation_p.V243I|RGS7_uc001hyu.2_Missense_Mutation_p.V327I|RGS7_uc009xgn.1_Missense_Mutation_p.V274I|RGS7_uc001hyv.2_Missense_Mutation_p.V327I|RGS7_uc001hyw.2_Missense_Mutation_p.V327I	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	327					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			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)			CATCGTTTTACCCTCTGCTGG	0.388000														111			6		0	0	0.00307968	0	0
POMT2	29954	broad.mit.edu	37	14	77750143	77750143	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:77750143G>A	uc001xti.2	-	14	1851	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	POMT2_uc001xth.1_Silent_p.I248I	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	550					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CACATACCCGGATCATGACCA	0.483000														109			9		0	0	0.000442599	0	0
FIBIN	387758	broad.mit.edu	37	11	27016165	27016165	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:27016165G>A	uc001mrd.3	+	0	538	c.92G>A	c.(91-93)gGg>gAg	p.G31E		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	31						Golgi apparatus|extracellular region		p.G31G(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ATGTCCAATGGGACTCTGCAC	0.542000														45			7		0	0	0.00198382	0	0
ARAP1	116985	broad.mit.edu	37	11	72416905	72416905	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:72416905G>A	uc001osu.3	-	12	1943	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	ARAP1_uc001osv.3_Missense_Mutation_p.S585F|ARAP1_uc001osr.3_Missense_Mutation_p.S345F|ARAP1_uc001oss.3_Missense_Mutation_p.S340F|ARAP1_uc009yth.3_Missense_Mutation_p.S340F|ARAP1_uc010rre.2_Missense_Mutation_p.S340F	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	585	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCGCACCTTGGAGACGCCAGC	0.632000														366			34		0	0	0.00170553	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711651	155711651	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:155711651G>A	uc002tyv.1	+	2	1527	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	444					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.P444S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GTTCAGTTCCGGGCAACTCAG	0.428000														58			6		0	0	0.00198382	0	0
PTCD3	55037	broad.mit.edu	37	2	86344204	86344204	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:86344204C>T	uc002sqw.2	+	5	402	c.336C>T	c.(334-336)tcC>tcT	p.S112S	PTCD3_uc010ytc.1_Non-coding_Transcript	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	112						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CAAAGAAATCCGGGGAGAATG	0.328000														37			4		0	0	0.00024832	0	0
HECW2	57520	broad.mit.edu	37	2	197298104	197298104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:197298104C>T	uc002utm.1	-	1	227	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	15					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.R15Q(4)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGGGATTTCGACGCCTCAC	0.567000														40			7		0	0	0.00307968	0	0
BAZ1A	11177	broad.mit.edu	37	14	35224118	35224118	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:35224118G>A	uc001wsk.3	-	25	4957	c.4389C>T	c.(4387-4389)gtC>gtT	p.V1463V	BAZ1A_uc001wsl.3_Silent_p.V1431V	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1463	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGTAGTCTGGGACCTGTAAAA	0.294000														43			6		0	0	0.00198382	0	0
FCHO1	23149	broad.mit.edu	37	19	17875220	17875220	+	Silent	SNP	G	A	A	rs148025294		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:17875220G>A	uc002nhg.3	+	5	435	c.156G>A	c.(154-156)gcG>gcA	p.A52A	FCHO1_uc010ebb.2_Silent_p.A52A|FCHO1_uc002nhh.2_Silent_p.A52A|FCHO1_uc010xpw.1_Silent_p.A2A|FCHO1_uc010ebc.1_Silent_p.A59A	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	52	FCH.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGGCGATGGCGAAACTCTCCA	0.602000														39			7		0	0	0.00307968	0	0
CDH10	1008	broad.mit.edu	37	5	24537681	24537681	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:24537681G>A	uc003jgr.2	-	2	840	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H112Y(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGTGGCATGAATATCACCT	0.403000										HNSCC(23;0.051)				39			6		0	0	0.00198382	0	0
OR4C3	256144	broad.mit.edu	37	11	48347131	48347131	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:48347131C>T	uc010rhv.2	+	0	639	c.639C>T	c.(637-639)gcC>gcT	p.A213A		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGGAAGTTGCCTGCACCAATA	0.498000														53			6		0	0	0.00307968	0	0
HRNR	388697	broad.mit.edu	37	1	152192792	152192792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:152192792C>T	uc001ezt.1	-	2	1389	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	438					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGCCGGAGCTGGGAGACTG	0.617000														91			8		0	0	0.000274275	0	0
FREM2	341640	broad.mit.edu	37	13	39266139	39266139	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:39266139C>T	uc001uwv.3	+	0	4967	c.4658C>T	c.(4657-4659)cCt>cTt	p.P1553L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1553					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)		CTGATTACTCCTTTTGAGCTC	0.453000														92			12		0	0	0.00136819	0	0
GABRA3	2556	broad.mit.edu	37	X	151376473	151376473	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:151376473C>T	uc010ntk.1	-	7	1018	c.778_splice	c.e7+1	p.G260_splice		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	260					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGTTAAATACCTGTACTAGAC	0.378000														22			11		0	0	0.00136819	0	0
KATNB1	10300	broad.mit.edu	37	16	57785579	57785579	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:57785579C>T	uc002eml.1	+	6	833	c.459C>T	c.(457-459)ctC>ctT	p.L153L		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	153	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				TGCGGTGTCTCCGGTTCAGCC	0.687000														77			12		0	0	0.00185496	0	0
MXRA5	25878	broad.mit.edu	37	X	3240713	3240713	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:3240713G>A	uc004crg.4	-	4	3170	c.3013C>T	c.(3013-3015)Ccc>Tcc	p.P1005S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1005						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)				CAGATGGTGGGGGTTGGAGTA	0.463000														61			31		0	0	0.00327116	0	0
LPAR4	2846	broad.mit.edu	37	X	78011429	78011429	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:78011429G>A	uc022bzj.1	+	0	1063	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	LPAR4_uc010nme.3_Missense_Mutation_p.D355N	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	355						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GGAAGTGAGTGATCAAACAAC	0.398000														16			7		0	0	0.00198382	0	0
THSD7B	80731	broad.mit.edu	37	2	138169256	138169256	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:138169256G>A	uc002tva.1	+	12	2680	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E784K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTGTGATGAATTTATATC	0.458000														109			17		0	0	0.000566183	0	0
NRG1	3084	broad.mit.edu	37	8	32621406	32621406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:32621406C>T	uc003xiv.2	+	11	1926	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	NRG1_uc022ats.1_Missense_Mutation_p.P420L|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P475L|NRG1_uc003xiw.2_Missense_Mutation_p.P467L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P212L|NRG1_uc010lvs.2_Missense_Mutation_p.P212L|NRG1_uc010lvp.2_Missense_Mutation_p.P424L|NRG1_uc010lvq.2_Missense_Mutation_p.P400L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P313L|NRG1_uc003xja.2_Missense_Mutation_p.P281L	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	470					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCGGTCAGCCCCTTCATGGAA	0.567000														57			9		0	0	0.000274275	0	0
TLN2	83660	broad.mit.edu	37	15	63000710	63000710	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:63000710C>T	uc002alb.4	+	17	2182	c.2182C>T	c.(2182-2184)Ccc>Tcc	p.P728S		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	728					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						GGTTGTGAGCCCCACTATTAG	0.602000														80			9		0	0	0.000442599	0	0
SNED1	25992	broad.mit.edu	37	2	241991542	241991542	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:241991542C>T	uc002wah.1	+	13	1937	c.1937C>T	c.(1936-1938)cCc>cTc	p.P646L		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	646	EGF-like 9.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGTGACTGTCCCCCAGGCTTC	0.612000														55			7		0	0	0.00307968	0	0
OR7E24	26648	broad.mit.edu	37	19	9361896	9361896	+	Silent	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9361896G>A	uc002mlb.1	+	0	177	c.177G>A	c.(175-177)ggG>ggA	p.G59G		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CGGTGCTGGGGAACCTGCTCA	0.577000														46			4		0	0	0.00024832	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285733	248285733	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248285733C>T	uc001idy.1	+	0	296	c.296C>T	c.(295-297)tCc>tTc	p.S99F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TTTTCCTTCTCCTACTGTGGG	0.418000														179			9		0	0	0.000274275	0	0
PDZD2	23037	broad.mit.edu	37	5	31799732	31799732	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:31799732A>G	uc003jhl.3	+	1	765	c.377A>G	c.(376-378)aAg>aGg	p.K126R	PDZD2_uc003jhm.3_Missense_Mutation_p.K126R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	126	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGCTGAGGAAGAACAGCCCA	0.587000														61			13		0	0	0.00244969	0	0
RASSF6	166824	broad.mit.edu	37	4	74442374	74442374	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:74442374G>A	uc003hhd.1	-	8	1015	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	RASSF6_uc003hhc.1_Missense_Mutation_p.R266C|RASSF6_uc010iik.1_Missense_Mutation_p.R232C|RASSF6_uc010iil.1_Missense_Mutation_p.R254C	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	298	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AGGAAAATGCGAGCATTCTTT	0.438000														199			24		0	0	0.00332997	0	0
RPRD2	23248	broad.mit.edu	37	1	150429989	150429989	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:150429989C>T	uc009wlr.3	+	7	1297	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C	RPRD2_uc010pcc.1_Missense_Mutation_p.R340C|RPRD2_uc001eup.4_Missense_Mutation_p.R340C	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	366							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GACAGATAATCGTGATGTGGA	0.428000														299			29		0	0	0.001512	0	0
COL19A1	1310	broad.mit.edu	37	6	70897825	70897825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:70897825G>A	uc003pfc.1	+	46	3020	c.2903G>A	c.(2902-2904)gGa>gAa	p.G968E		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	968	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTGAACGGGGAAAACCAGGC	0.527000														81			5		0	0	0.00116845	0	0
KIAA1383	54627	broad.mit.edu	37	1	232942478	232942478	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:232942478G>A	uc001hvh.2	+	0	1841	c.1709G>A	c.(1708-1710)aGg>aAg	p.R570K		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	428										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TGGTTATATAGGACTGAGGAT	0.448000														54			6		0	0	0.00198382	0	0
KIAA1841	84542	broad.mit.edu	37	2	61297492	61297492	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:61297492C>T	uc002saw.4	+	2	310	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	KIAA1841_uc002sax.4_5'UTR|KIAA1841_uc002say.3_Missense_Mutation_p.R3C|KIAA1841_uc002sav.4_Missense_Mutation_p.R3C	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	3										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAAGATGAGTCGTGGATATTC	0.338000														69			6		0	0	0.00307968	0	0
DRD1	1812	broad.mit.edu	37	5	174868893	174868893	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:174868893C>T	uc003mcz.3	-	1	2155	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	DRD1_uc021yia.1_Missense_Mutation_p.E404K	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	404					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GCTGCCTCCTCCTTTTTCAGG	0.542000														60			6		0	0	0.00116845	0	0
MUC21	394263	broad.mit.edu	37	6	30955398	30955398	+	Silent	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:30955398C>T	uc003nsh.2	+	1	1697	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.L466L	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	482						integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AAATCTTCCTCATCACCCTGG	0.562000														34			7		0	0	0.00198382	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278928	36278928	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:36278928C>T	uc002obs.2	+	20	3122	c.2978C>T	c.(2977-2979)gCc>gTc	p.A993V	ARHGAP33_uc002obt.2_Missense_Mutation_p.A990V|ARHGAP33_uc002obv.1_Missense_Mutation_p.A742V	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1154					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGCTACTCAGCCCCCCAGCAC	0.662000														37			7		0	0	0.00307968	0	0
ZNF544	27300	broad.mit.edu	37	19	58772598	58772598	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:58772598A>G	uc010euo.3	+	6	1100	c.626A>G	c.(625-627)gAt>gGt	p.D209G	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.D181G|ZNF544_uc010yhy.2_Missense_Mutation_p.D181G|ZNF544_uc002qrt.4_Missense_Mutation_p.D67G|ZNF544_uc002qru.4_Missense_Mutation_p.D67G|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AATGGAGCAGATGGGAAGCAC	0.378000														52			14		0	0	0.00316338	0	0
OR8B8	26493	broad.mit.edu	37	11	124310318	124310318	+	Missense_Mutation	SNP	G	A	A	rs1893135	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:124310318G>A	uc010sal.2	-	0	664	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	222					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)		ATGCTGGAGAGAATGAGAGCA	0.483000														141			13		0	0	0.00185496	0	0
JAG1	182	broad.mit.edu	37	20	10626702	10626702	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:10626702C>T	uc002wnw.2	-	14	2432	c.1916G>A	c.(1915-1917)aGa>aAa	p.R639K	JAG1_uc010gcd.1_Missense_Mutation_p.R197K	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	639	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCCACCGTTTCTACAAGGGTT	0.463000									Alagille Syndrome					107			11		0	0	0.000978159	0	0
TTC31	64427	broad.mit.edu	37	2	74720143	74720143	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:74720143C>T	uc002slt.2	+	12	1381	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	TTC31_uc002slu.2_Missense_Mutation_p.S307F	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	453							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGCCTACCTTCCCTCAGGTGC	0.617000														219			26		0	0	0.000878237	0	0
OR5R1	219479	broad.mit.edu	37	11	56185662	56185662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:56185662C>T	uc010rji.2	-	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTTGGTAATTCCTTTCAGAAT	0.383000														77			11		0	0	0.000673444	0	0
CFI	3426	broad.mit.edu	37	4	110687842	110687842	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:110687842G>A	uc011cft.2	-	1	404	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	CFI_uc003hzr.4_Nonsense_Mutation_p.Q66*	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	66	Kazal-like.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTGGGCACTGATACGGTAGT	0.453000														65			6		0	0	0.00198382	0	0
AKAP9	10142	broad.mit.edu	37	7	91715708	91715708	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:91715708T>A	uc003ulg.3	+	36	9416	c.9191T>A	c.(9190-9192)tTg>tAg	p.L3064*	AKAP9_uc003ulf.3_Nonsense_Mutation_p.L3056*|AKAP9_uc003uli.3_Nonsense_Mutation_p.L2687*|AKAP9_uc003ulj.3_Nonsense_Mutation_p.L834*|AKAP9_uc003ulk.3_Nonsense_Mutation_p.L339*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3068					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTAAACTGTTTGGAACAGAGA	0.333000			T	BRAF	papillary thyroid									218			18		0	0	0.000958276	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125859	12125859	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:12125859G>A	uc003nac.3	+	3	6010	c.5831G>A	c.(5830-5832)tGg>tAg	p.W1944*	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1944					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AACTTTACATGGTGTTATCTC	0.443000														85			13		0	0	0.00316338	0	0
IFT122	55764	broad.mit.edu	37	3	129207226	129207226	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:129207226G>A	uc003eml.3	+	16	2337	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	IFT122_uc003emm.3_Missense_Mutation_p.E660K|IFT122_uc003emn.3_Missense_Mutation_p.E601K|IFT122_uc003emo.3_Missense_Mutation_p.E549K|IFT122_uc003emp.3_Missense_Mutation_p.E510K|IFT122_uc010htc.3_Missense_Mutation_p.E652K|IFT122_uc011bky.2_Missense_Mutation_p.E451K|IFT122_uc011bla.2_Missense_Mutation_p.E451K|IFT122_uc003emr.3_Missense_Mutation_p.E451K|IFT122_uc010hte.3_Missense_Mutation_p.E40K|IFT122_uc003ems.3_Missense_Mutation_p.E59K|IFT122_uc011bkx.1_Missense_Mutation_p.E500K|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Missense_Mutation_p.E139K	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	660					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTTAGATTTTGAAACAGCAAA	0.517000														55			16		0	0	0.000566183	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	-	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:1850628_1850636delAGCGGCAGG	uc001aij.2	-	0	105_113	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_uc001aii.2_5'Flank	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													---	2	---	---	7	---					
CCDC30	728621	broad.mit.edu	37	1	43002200	43002201	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:43002200_43002201delAG	uc009vwk.1	+	1	155_156	c.45_46delAG	c.(43-48)aaagagfs	p.K15fs	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Frame_Shift_Del_p.K15fs	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGTGGTCAAAAGAGAGAGAGAG	0.356													---	79	---	---	7	---					
FAM193A	8603	broad.mit.edu	37	4	2701860	2701861	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:2701860_2701861delCT	uc010ick.3	+	17	3689_3690	c.3688_3689delCT	c.(3688-3690)ctcfs	p.L1230fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.L1030fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.L1052fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.L1030fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.L1030fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.L884fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	1030										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCATGAGCCACTCTCTTTTTTC	0.574													---	114	---	---	10	---					
SHB	6461	broad.mit.edu	37	9	38068209	38068209	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:38068209delC	uc004aax.3	-	0	1002	c.434delG	c.(433-435)ggcfs	p.G145fs		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	145	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGCCCCCGCGCCCGAGGAGGC	0.781													---	4	---	---	2	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr21:34799292delT	uc002yrp.4	+	3	1162	c.514delT	c.(514-516)tttfs	p.F172fs		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	172	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													---	450	---	---	7	---					
DDX3X	1654	broad.mit.edu	37	X	41203517	41203523	+	Frame_Shift_Del	DEL	CTTGCGT	-	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:41203517_41203523delCTTGCGT	uc004dfe.3	+	9	1745_1751	c.890_896delCTTGCGT	c.(889-897)ccttgcgtgfs	p.P297fs	DDX3X_uc010nhf.1_Frame_Shift_Del_p.P281fs|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Frame_Shift_Del_p.P297fs|DDX3X_uc011mkq.2_Frame_Shift_Del_p.P281fs|DDX3X_uc011mkr.2_Frame_Shift_Del_p.P297fs|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	297	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AGAGTTCGTCCTTGCGTGGTTTATGGT	0.377										HNSCC(61;0.18)			---	140	---	---	30	---					
