Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
AMIGO2	347902	broad.mit.edu	37	12	47471774	47471774	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:47471774C>T	ENST00000266581.4	-	2	1478	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	AMIGO2_ENST00000429635.1_Missense_Mutation_p.E338K|AMIGO2_ENST00000321382.3_Missense_Mutation_p.E338K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E338K	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	338	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TAAAAGTTTTCCATCTCTTTA	0.438000													20	77					0	0	0.000958276	0	0
DPH2	1802	broad.mit.edu	37	1	44437122	44437122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:44437122C>T	ENST00000255108.3	+	4	720	c.548C>T	c.(547-549)cCc>cTc	p.P183L	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.P48L|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	183					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCAGCTTTTCCCCAACCAGTG	0.607000													4	13					0	0	0.00024832	0	0
COL12A1	1303	broad.mit.edu	37	6	75839869	75839869	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:75839869C>T	ENST00000322507.8	-	37	6457	c.6148G>A	c.(6148-6150)Ggg>Agg	p.G2050R	COL12A1_ENST00000345356.6_Missense_Mutation_p.G886R|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2050R|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2050R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2050	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGAACTGGCCCATCAGCATGA	0.413000													7	37					0	0	0.00198382	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401369	139401369	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:139401369G>A	ENST00000277541.6	-	23	3775	c.3700C>T	c.(3700-3702)Cgg>Tgg	p.R1234W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1234	EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGGGGCTCCGGGACACGGGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	6					0	0	6.4e-05	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133664076	133664076	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:133664076G>A	ENST00000310926.4	-	10	1597	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P366S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	442	Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CGGCAGGCAGGAGACTGCGGA	0.542000													24	123					0	0	0.00047179	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602712	96602712	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:96602712C>A	ENST00000371321.3	+	7	1162	c.1080C>A	c.(1078-1080)gaC>gaA	p.D360E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	360					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)	GATACATCGACCTCATCCCCA	0.537000													18	41					6.49762e-13	2.84583e-12	0.00074312	1	0
FREM2	341640	broad.mit.edu	37	13	39358926	39358926	+	Silent	SNP	C	C	T	rs146568641		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:39358926C>T	ENST00000280481.7	+	6	6216	c.6000C>T	c.(5998-6000)atC>atT	p.I2000I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2000	Calx-beta 3.				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)		AAGTTACAATCGTTCCTGACA	0.438000													7	23					0	0	0.000274275	0	0
TCF3	6929	broad.mit.edu	37	19	1612289	1612289	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:1612289A>G	ENST00000344749.5	-	18	1796	c.1730T>C	c.(1729-1731)cTc>cCc	p.L577P	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.L577P|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Missense_Mutation_p.L492P	NM_001136139.2	NP_001129611.1	P15923	TFE2_HUMAN	transcription factor 3	580	Helix-loop-helix motif.				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GTCCGACTTGAGGTGCATCTG	0.667000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								5	21					0	0	0.00116845	0	0
EYA4	2070	broad.mit.edu	37	6	133834097	133834097	+	Silent	SNP	G	G	A	rs138141986		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:133834097G>A	ENST00000367895.5	+	16	1886	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	EYA4_ENST00000431403.2_Silent_p.G474G|EYA4_ENST00000452339.2_Silent_p.G420G|EYA4_ENST00000355286.6_Silent_p.G451G|EYA4_ENST00000430974.2_Silent_p.G426G|EYA4_ENST00000531901.1_Silent_p.G480G|EYA4_ENST00000355167.3_Silent_p.G474G|EYA4_ENST00000525849.1_Silent_p.G451G|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	474					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAAGAGGAGGGGTTGACTGGA	0.418000													4	17					0	0	0.00024832	0	0
COG1	9382	broad.mit.edu	37	17	71197605	71197605	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:71197605G>A	ENST00000299886.4	+	7	1719	c.1639G>A	c.(1639-1641)Gtt>Att	p.V547I		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	547					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)			GCCCAAGGACGTTTCTCCCAC	0.532000													20	65					0	0	0.00152264	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108955898	108955898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:108955898C>T	ENST00000375887.4	+	5	869	c.691C>T	c.(691-693)Cga>Tga	p.R231*	TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000430559.1_Nonsense_Mutation_p.R212*	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	231					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			GACTTTGTTTCGATGTATTCA	0.383000													16	52					0	0	0.000566183	0	0
ZNF566	84924	broad.mit.edu	37	19	36940898	36940898	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:36940898C>G	ENST00000454319.1	-	5	375	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	ZNF566_ENST00000424129.2_Missense_Mutation_p.E80Q|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000392170.2_Missense_Mutation_p.E81Q|ZNF566_ENST00000434377.2_Missense_Mutation_p.E80Q	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CATCTTGATTCCAGGACTGAA	0.303000													7	23					0	0	0.00198382	0	0
TLR5	7100	broad.mit.edu	37	1	223285504	223285504	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:223285504C>T	ENST00000540964.1	-	4	1331	c.870G>A	c.(868-870)gtG>gtA	p.V290V	TLR5_ENST00000342210.6_Silent_p.V290V			O60602	TLR5_HUMAN	toll-like receptor 5	290					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCAGGTGTCTCACTGAACTTC	0.478000													8	50					0	0	0.000274275	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933883	73933883	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:73933883C>T	ENST00000476977.1	+	6	2441	c.750C>T	c.(748-750)tcC>tcT	p.S250S	GTF2IRD1_ENST00000455841.2_Silent_p.S282S|GTF2IRD1_ENST00000424337.2_Silent_p.S250S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Silent_p.S250S			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	250						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCGCCACCTCCTCCTCCATGG	0.672000													9	17					0	0	0.000274275	0	0
CA10	56934	broad.mit.edu	37	17	50008440	50008440	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:50008440C>T	ENST00000451037.2	-	3	1129	c.189G>A	c.(187-189)ggG>ggA	p.G63G	CA10_ENST00000340813.6_Silent_p.G69G|CA10_ENST00000285273.4_Silent_p.G63G|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Silent_p.G63G	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	63					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ACTGCCGTTTCCCCACAGAGC	0.493000													27	62					0	0	0.000720815	0	0
OR2W3	343171	broad.mit.edu	37	1	248059274	248059274	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:248059274C>T	ENST00000537741.1	+	3	643	c.386C>T	c.(385-387)cCc>cTc	p.P129L	OR2W3_ENST00000360358.3_Missense_Mutation_p.P129L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATCTGCAAGCCCCTGCACTAC	0.612000													13	34					0	0	0.00185496	0	0
CFHR4	10877	broad.mit.edu	37	1	196887426	196887426	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:196887426G>A	ENST00000367416.2	+	10	1761	c.1624G>A	c.(1624-1626)Ggg>Agg	p.G542R	CFHR4_ENST00000367418.1_Missense_Mutation_p.G296R|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.G296R	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGCAAAAACAGGGGATACCAT	0.318000													10	56					0	0	0.000978159	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751321	19751321	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:19751321G>A	ENST00000400113.3	-	4	906	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	268					'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)		GTGGCCAGGGGGAAGTGGATG	0.617000													7	48					0	0	0.000274275	0	0
IPO5	3843	broad.mit.edu	37	13	98637698	98637698	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:98637698C>T	ENST00000261574.5	+	6	429	c.249C>T	c.(247-249)ctC>ctT	p.L83L	IPO5_ENST00000490680.1_Silent_p.L65L|IPO5_ENST00000539640.1_Silent_p.L65L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	65	Importin N-terminal.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CCGCCGTTCTCCTAAGACGTC	0.388000													23	71					0	0	0.000720815	0	0
MIA3	375056	broad.mit.edu	37	1	222803275	222803275	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:222803275C>T	ENST00000344922.5	+	4	2738	c.2713C>T	c.(2713-2715)Cac>Tac	p.H905Y	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.H905Y|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	905					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGACTCGTTCCACTGGACTCC	0.483000													38	229					0	0	0.00128727	0	0
ISM1	140862	broad.mit.edu	37	20	13279725	13279725	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:13279725C>T	ENST00000262487.3	+	6	1020	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	338	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCGACATCTTCGACCGCATCA	0.597000													4	14					0	0	0.000602214	0	0
DDX53	168400	broad.mit.edu	37	X	23019218	23019218	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:23019218C>T	ENST00000327968.5	+	1	1132	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	348	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTGTAGATATCATTATTGCAA	0.353000													8	14					0	0	0.000442599	0	0
GUCY2C	2984	broad.mit.edu	37	12	14772205	14772205	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:14772205G>A	ENST00000261170.3	-	24	2951	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	939	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGACAATAACGAGGCATCTTG	0.473000													19	68					0	0	0.000586117	0	0
SYT12	91683	broad.mit.edu	37	11	66807659	66807659	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:66807659C>T	ENST00000393946.2	+	7	1768	c.606C>T	c.(604-606)atC>atT	p.I202I	SYT12_ENST00000525457.1_Silent_p.I202I|SYT12_ENST00000527043.1_Silent_p.I202I|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	202	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						ACGAGCAGATCGTGGGCATTT	0.672000													7	34					0	0	0.000274275	0	0
KIAA1210	57481	broad.mit.edu	37	X	118239003	118239003	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:118239003C>T	ENST00000402510.2	-	7	1019	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	340										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTGTGGATTCTTAGGTGACT	0.453000													31	39					0	0	0.00283554	0	0
WIPF2	147179	broad.mit.edu	37	17	38418887	38418887	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:38418887G>A	ENST00000323571.4	+	4	547	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.G103S|WIPF2_ENST00000585043.1_Missense_Mutation_p.G103S	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	103						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AGCCAAGGATGGTTCAGGTAT	0.537000										HNSCC(43;0.11)			11	44					0	0	0.00136819	0	0
FBXO40	51725	broad.mit.edu	37	3	121345715	121345715	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:121345715C>T	ENST00000338040.4	+	4	2502	c.2088C>T	c.(2086-2088)gtC>gtT	p.V696V		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	696					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGAGCTTAGTCTCCACCTTTA	0.478000													6	39					0	0	0.00198382	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053991	65053991	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:65053991G>A	ENST00000298705.1	+	10	887	c.791G>A	c.(790-792)gGg>gAg	p.G264E	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	264																	GAAGAAGTAGGGAGACTCTTT	0.418000													7	30					0	0	0.00198382	0	0
SCAND3	114821	broad.mit.edu	37	6	28542979	28542979	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:28542979G>A	ENST00000452236.2	-	3	2120	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	501	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.F501F(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACATCTGAATGAACCACAAAA	0.433000													14	57					0	0	0.000308642	0	0
VPS33A	65082	broad.mit.edu	37	12	122716937	122716937	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:122716937G>A	ENST00000267199.4	-	13	1759	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	RP11-512M8.5_ENST00000535844.1_Silent_p.F510F	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	549					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGCCCCCAAGGAAAAATATCA	0.398000													9	31					0	0	0.000274275	0	0
DEFB121	245934	broad.mit.edu	37	20	29993947	29993947	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:29993947G>A	ENST00000376314.2	-	1	122	c.9C>T	c.(7-9)ctC>ctT	p.L3L	DEFB121_ENST00000376312.3_Intron	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	3					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGAAGAAGGAGCTTCATGA	0.488000													7	27					0	0	0.000157383	0	0
DOCK8	81704	broad.mit.edu	37	9	332409	332409	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:332409C>T	ENST00000432829.2	+	10	1168	c.852C>T	c.(850-852)gtC>gtT	p.V284V	DOCK8_ENST00000469391.1_Silent_p.V284V|DOCK8_ENST00000453981.1_Silent_p.V352V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	352					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTGAAAAAGTCCTGCAGCAGG	0.348000													5	9					0	0	0.00116845	0	0
C19orf45	374877	broad.mit.edu	37	19	7570315	7570315	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:7570315G>A	ENST00000361664.2	+	5	1029	c.888G>A	c.(886-888)agG>agA	p.R296R		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	296										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCTATGCCAGGGAGCCAGGTG	0.642000													8	10					0	0	0.000157383	0	0
CD163	9332	broad.mit.edu	37	12	7639216	7639216	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:7639216C>T	ENST00000359156.4	-	10	2539	c.2337G>A	c.(2335-2337)ggG>ggA	p.G779G	CD163_ENST00000541972.1_Silent_p.G767G|CD163_ENST00000432237.2_Silent_p.G779G|CD163_ENST00000396620.3_Silent_p.G812G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	779	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCAGATGGGCCCTGTTCCTT	0.547000													26	109					0	0	0.00209593	0	0
OR52E2	119678	broad.mit.edu	37	11	5080816	5080816	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:5080816G>A	ENST00000321522.2	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGCAACAGGAAGGAGGAGG	0.483000													9	26					0	0	0.000442599	0	0
FMN2	56776	broad.mit.edu	37	1	240370352	240370352	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:240370352C>T	ENST00000319653.9	+	5	2470	c.2240C>T	c.(2239-2241)tCc>tTc	p.S747F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACAGACTTCCCCCACGGAA	0.572000													6	12					0	0	0.00198382	0	0
FCRL6	343413	broad.mit.edu	37	1	159779934	159779934	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:159779934C>T	ENST00000321935.6	+	7	1044	c.958C>T	c.(958-960)Cct>Tct	p.P320S	FCRL6_ENST00000392235.3_Missense_Mutation_p.P218S|FCRL6_ENST00000368106.3_Missense_Mutation_p.P313S|FCRL6_ENST00000339348.5_Missense_Mutation_p.P313S			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	313						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TCCTTGGCTTCCTGCGAGCCT	0.517000													19	77					0	0	0.000958276	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736566	26736566	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr22:26736566G>A	ENST00000529632.2	+	10	2376	c.2180G>A	c.(2179-2181)gGa>gAa	p.G727E	SEZ6L_ENST00000403121.1_Missense_Mutation_p.G500E|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G500E|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G727E|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G727E|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G727E|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G727E	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	727	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCATCTTTGGAAAGGGCCAG	0.468000													10	32					0	0	0.00185496	0	0
HTR1E	3354	broad.mit.edu	37	6	87725331	87725331	+	Silent	SNP	C	C	T	rs143123336		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:87725331C>T	ENST00000305344.4	+	2	982	c.279C>T	c.(277-279)ttC>ttT	p.F93F	HTR1E_ENST00000369584.1_Silent_p.F93F	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	93					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TTGGGTACTTCCTCTGTGAGG	0.562000													9	56					0	0	0.000442599	0	0
SPINK5	11005	broad.mit.edu	37	5	147498040	147498040	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:147498040G>C	ENST00000359874.3	+	23	2226	c.2153G>C	c.(2152-2154)aGa>aCa	p.R718T	SPINK5_ENST00000256084.7_Missense_Mutation_p.R718T|SPINK5_ENST00000398454.1_Missense_Mutation_p.R718T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	718	Kazal-like 11.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATGGAAGACTCAGCTGT	0.408000													14	50					0	0	0.00185496	0	0
AE000661.37	0	broad.mit.edu	37	14	22933244	22933244	+	RNA	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:22933244G>A	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							ACAGTGCTTGGGCTACGAATG	0.433000													9	17					0	0	0.00136819	0	0
NACA2	342538	broad.mit.edu	37	17	59668251	59668251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:59668251C>T	ENST00000521764.1	-	1	312	c.291G>A	c.(289-291)tgG>tgA	p.W97*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	97	NAC-A/B.				protein transport	cytoplasm|nucleus		p.W97*(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTTAGATTTCCAGATAGTGA	0.448000													29	113					0	0	0.000814825	0	0
CPS1	1373	broad.mit.edu	37	2	211525297	211525297	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:211525297T>A	ENST00000233072.5	+	32	4041	c.3845T>A	c.(3844-3846)gTg>gAg	p.V1282E	CPS1_ENST00000451903.2_Missense_Mutation_p.V831E|CPS1_ENST00000430249.2_Missense_Mutation_p.V1288E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1282	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCACCAAGGTGATGATTGGA	0.403000													30	79					0	0	0.00178596	0	0
SGCD	6444	broad.mit.edu	37	5	156184689	156184689	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:156184689C>T	ENST00000435422.3	+	7	1157	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	SGCD_ENST00000337851.4_Silent_p.L225L|SGCD_ENST00000447401.1_Silent_p.L225L|SGCD_ENST00000517913.1_Silent_p.L225L	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	224					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGACAGAGCTGAGACTGGA	0.522000													19	98					0	0	0.00152264	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492217	85492217	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:85492217C>T	ENST00000393217.2	+	12	3033	c.2972C>T	c.(2971-2973)cCt>cTt	p.P991L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	991										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGTGATACACCTACCATTGTA	0.328000													11	32					0	0	0.000978159	0	0
E2F8	79733	broad.mit.edu	37	11	19246901	19246901	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:19246901G>A	ENST00000527884.1	-	12	2520	c.2288C>T	c.(2287-2289)cCa>cTa	p.P763L	E2F8_ENST00000250024.4_Missense_Mutation_p.P763L|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	763					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P763Q(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTATTCTTGGAGACACAGG	0.532000													8	42					0	0	0.000274275	0	0
C2orf78	388960	broad.mit.edu	37	2	74044065	74044065	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:74044065C>T	ENST00000409561.1	+	3	2836	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	905										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGCAGTTTTTCATTGAAAGGG	0.443000													5	10					0	0	0.000602214	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575876	44575876	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:44575876G>A	ENST00000289547.4	-	4	1888	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	NPC1L1_ENST00000546276.1_Silent_p.F611F|NPC1L1_ENST00000381160.3_Silent_p.F611F|NPC1L1_ENST00000423141.1_Silent_p.F611F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	611					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACGTGACCTGGAACATGCCAG	0.642000													10	33					0	0	0.000978159	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389911	150389911	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:150389911C>T	ENST00000223293.5	+	3	631	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	179						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGGCGAATCTGTGCCTTTA	0.483000													9	34					0	0	0.000673444	0	0
ADAM2	2515	broad.mit.edu	37	8	39694659	39694659	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:39694659G>A	ENST00000265708.4	-	2	231	c.128C>T	c.(127-129)tCg>tTg	p.S43L	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.S43L|ADAM2_ENST00000521880.1_Missense_Mutation_p.S43L|ADAM2_ENST00000379853.2_Missense_Mutation_p.S43L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	43					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S43L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATTACCTGCGATTCAATTCC	0.303000													9	48					0	0	0.000673444	0	0
DSP	1832	broad.mit.edu	37	6	7580074	7580074	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:7580074G>A	ENST00000379802.3	+	23	3992	c.3651G>A	c.(3649-3651)acG>acA	p.T1217T	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1217	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			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)		TTAACATTACGAAGACCACCA	0.368000													4	20					0	0	0.00024832	0	0
STIM1	6786	broad.mit.edu	37	11	4080625	4080625	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:4080625C>T	ENST00000300737.4	+	5	1181	c.613_splice	c.e5+1	p.L204_splice	STIM1_ENST00000527651.1_Splice_Site_p.L204_splice|STIM1_ENST00000533977.1_Splice_Site_p.L31_splice|STIM1_ENST00000527484.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	204					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGCCTCCTCTCTGTGAGTCTT	0.542000													4	11					0	0	0.00024832	0	0
GJB6	10804	broad.mit.edu	37	13	20797525	20797525	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:20797525C>T	ENST00000356192.6	-	5	715	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	GJB6_ENST00000241124.6_Missense_Mutation_p.R32Q|GJB6_ENST00000400066.3_Missense_Mutation_p.R32Q|GJB6_ENST00000400065.3_Missense_Mutation_p.R32Q	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	32					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GATCATGACTCGGAAAATAAA	0.532000													12	50					0	0	0.00185496	0	0
PTPRT	11122	broad.mit.edu	37	20	41076937	41076937	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:41076937C>T	ENST00000373198.3	-	9	1718	c.1483G>A	c.(1483-1485)Ggg>Agg	p.G495R	PTPRT_ENST00000373190.1_Missense_Mutation_p.G495R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G495R|PTPRT_ENST00000373187.1_Missense_Mutation_p.G495R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G495R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G495R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G495R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	495	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AAGGGCCCCCCTTGGATGGAT	0.507000													11	68					0	0	0.00185496	0	0
KRT6A	3853	broad.mit.edu	37	12	52886863	52886863	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:52886863G>A	ENST00000330722.6	-	1	178	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	37	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGACACGGAGACGCTGCT	0.662000													15	39					0	0	0.000308642	0	0
ADAM23	8745	broad.mit.edu	37	2	207432017	207432017	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:207432017G>A	ENST00000264377.3	+	15	1793	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	ADAM23_ENST00000374415.3_Missense_Mutation_p.G489R|ADAM23_ENST00000374416.1_Missense_Mutation_p.G489R	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	489	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GAGAGGAGGTGGAGCCTGCCT	0.383000													15	40					0	0	0.000308642	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551914	58551914	+	Splice_Site	SNP	T	T	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:58551914T>G	ENST00000282326.1	+	4	712		c.e4+2			NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCATCGCAGGTGAGCCCGGGG	0.617000													6	16					0	0	0.00116845	0	0
SALL1	6299	broad.mit.edu	37	16	51173383	51173383	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:51173383G>A	ENST00000440970.1	-	2	2890	c.2459C>T	c.(2458-2460)cCa>cTa	p.P820L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P917L|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	917					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGAGATGGCTGGGCTGCCAGC	0.552000													13	25					0	0	0.00244969	0	0
CYP3A5	1577	broad.mit.edu	37	7	99272200	99272200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:99272200C>T	ENST00000343703.5	-	4	530	c.144G>A	c.(142-144)tgG>tgA	p.W48*	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Nonsense_Mutation_p.W58*|CYP3A5_ENST00000222982.4_Nonsense_Mutation_p.W58*					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TGTCAAATTTCCAGAGACCCT	0.398000													7	21					0	0	0.000157383	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212336	43212336	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:43212336C>T	ENST00000255226.6	+	5	1359	c.543C>T	c.(541-543)ctC>ctT	p.L181L	SLC14A2_ENST00000586448.1_Silent_p.L181L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	181						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCAGGACTCCATGGGTACA	0.537000													8	56					0	0	0.000442599	0	0
BRPF1	7862	broad.mit.edu	37	3	9785987	9785987	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:9785987G>A	ENST00000383829.2	+	9	3119	c.2715G>A	c.(2713-2715)ccG>ccA	p.P905P	BRPF1_ENST00000457855.1_Silent_p.P899P|BRPF1_ENST00000424362.1_Silent_p.P898P|BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000302054.3_Silent_p.P899P	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	899	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AAAAGAACCCGAAGACAGCTG	0.632000													12	32					0	0	0.000978159	0	0
CDKL5	6792	broad.mit.edu	37	X	18622217	18622217	+	Silent	SNP	G	G	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:18622217G>T	ENST00000379989.3	+	13	1458	c.1173G>T	c.(1171-1173)ggG>ggT	p.G391G	CDKL5_ENST00000379996.3_Silent_p.G391G|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	391					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCCAGCCTGGGTCTACCAGCA	0.453000													21	20					4.96729e-08	2.17036e-07	0.00121646	1	0
DNAH10	196385	broad.mit.edu	37	12	124285974	124285974	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:124285974C>T	ENST00000409039.3	+	15	2280	c.2255C>T	c.(2254-2256)tCa>tTa	p.S752L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	752	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACTGGAACTCACTAGGTAAC	0.378000													14	39					0	0	0.000308642	0	0
F13B	2165	broad.mit.edu	37	1	197029651	197029651	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:197029651C>T	ENST00000367412.1	-	5	693	c.650G>A	c.(649-651)aGa>aAa	p.R217K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	217	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCAATTAATCTTAAAGAAGA	0.274000													5	41					0	0	0.00116845	0	0
UBASH3A	53347	broad.mit.edu	37	21	43862599	43862599	+	Silent	SNP	A	A	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:43862599A>G	ENST00000319294.6	+	12	1555	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E	UBASH3A_ENST00000398367.1_Silent_p.E470E|UBASH3A_ENST00000291535.6_Silent_p.E470E	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	508	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TACGAGTGGAACCTGGAATCT	0.413000													17	72					0	0	0.000422831	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921271	12921271	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:12921271C>T	ENST00000240189.2	+	4	1149	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	354										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)		TCGAGACCCTCGTGTTAGAGG	0.537000													31	62					0	0	0.00178596	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321797	79321797	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:79321797A>G	ENST00000428286.1	-	8	5516	c.4316T>C	c.(4315-4317)gTt>gCt	p.V1439A	PRUNE2_ENST00000376718.3_Missense_Mutation_p.V1798A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1798					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGCCATGCAACATCTCCTGT	0.463000													8	18					0	0	0.000157383	0	0
SLFN13	146857	broad.mit.edu	37	17	33767892	33767892	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:33767892G>A	ENST00000285013.6	-	6	2691	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S	SLFN13_ENST00000542635.1_Missense_Mutation_p.P806S|SLFN13_ENST00000360502.2_Missense_Mutation_p.P488S|SLFN13_ENST00000534689.1_Missense_Mutation_p.P488S|SLFN13_ENST00000526861.1_Missense_Mutation_p.P806S|SLFN13_ENST00000533791.1_Missense_Mutation_p.P806S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	806						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACATCCTTTGGAGAATAGCCC	0.448000													14	34					0	0	0.00244969	0	0
PRPF40A	55660	broad.mit.edu	37	2	153527837	153527837	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:153527837G>A	ENST00000410080.1	-	14	1970	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	504	FF 2.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATTTCAAGACGATCACGTTCT	0.264000													20	85					0	0	0.000720815	0	0
BCMO1	53630	broad.mit.edu	37	16	81295858	81295858	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:81295858C>T	ENST00000258168.2	+	4	902	c.441C>T	c.(439-441)atC>atT	p.I147I	BCMO1_ENST00000564552.1_Silent_p.I147I|BCMO1_ENST00000425577.2_Silent_p.I78I	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	147					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						TCAGGAAAATCAACCCACAGA	0.507000													18	38					0	0	0.00121646	0	0
DNAH14	127602	broad.mit.edu	37	1	225155175	225155175	+	Silent	SNP	C	C	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:225155175C>A	ENST00000430092.1	+	6	756	c.541C>A	c.(541-543)Cgg>Agg	p.R181R	DNAH14_ENST00000439375.2_Silent_p.R181R|DNAH14_ENST00000366849.1_Silent_p.R181R|DNAH14_ENST00000366850.3_Silent_p.R181R|DNAH14_ENST00000366848.1_Silent_p.R181R|DNAH14_ENST00000400952.3_Silent_p.R181R	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	308					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TTGCCTTCCTCGGAAAAGTCC	0.294000													46	91					2.64514e-33	1.16131e-32	0.000781405	1	0
PTPRN	5798	broad.mit.edu	37	2	220166879	220166879	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:220166879G>A	ENST00000295718.2	-	6	1214	c.974C>T	c.(973-975)gCt>gTt	p.A325V	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.A235V|PTPRN_ENST00000409251.3_Missense_Mutation_p.A325V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	325					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGCTGGGGAAGCAGGCTTCTC	0.612000													4	21					0	0	0.000602214	0	0
LYZ	4069	broad.mit.edu	37	12	69746962	69746962	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:69746962G>A	ENST00000261267.2	+	4	478	c.410G>A	c.(409-411)aGa>aAa	p.R137K	LYZ_ENST00000549690.1_Missense_Mutation_p.E111K	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	137					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TGTCAAAACAGAGATGTCCGT	0.378000													9	79					0	0	0.000673444	0	0
TF	7018	broad.mit.edu	37	3	133497452	133497452	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:133497452C>T	ENST00000402696.3	+	17	2570	c.2085C>T	c.(2083-2085)ttC>ttT	p.F695F	TF_ENST00000264998.3_Silent_p.F568F	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	695					cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCTGCACTTTCCGTAGACCTT	0.463000													5	29					0	0	0.000602214	0	0
SAMD4A	23034	broad.mit.edu	37	14	55251330	55251330	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:55251330C>T	ENST00000251091.5	+	10	2161	c.1856C>T	c.(1855-1857)gCc>gTc	p.A619V	SAMD4A_ENST00000357634.3_Missense_Mutation_p.A706V|SAMD4A_ENST00000392067.3_Missense_Mutation_p.A707V|SAMD4A_ENST00000554335.1_Missense_Mutation_p.A707V|SAMD4A_ENST00000555192.1_Missense_Mutation_p.A334V	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	707					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ACCGAACACGCCCTGGGAGGT	0.552000													14	55					0	0	0.000308642	0	0
IL7R	3575	broad.mit.edu	37	5	35867477	35867477	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:35867477G>A	ENST00000303115.3	+	3	420	c.291G>A	c.(289-291)aaG>aaA	p.K97K	IL7R_ENST00000511982.1_Silent_p.K97K|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Silent_p.K97K|IL7R_ENST00000343305.4_Silent_p.K97K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	97					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCGAGACAAAGAAATTCTTAC	0.378000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						14	31					0	0	0.00244969	0	0
IL13RA2	3598	broad.mit.edu	37	X	114239877	114239877	+	Splice_Site	SNP	A	A	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:114239877A>C	ENST00000371936.1	-	10	1248	c.997_splice	c.e10-1	p.G333_splice	IL13RA2_ENST00000243213.1_Splice_Site_p.G333_splice			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	333	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						ATAGGTCTTCACCTAGGATTA	0.348000													10	7					0	0	0.000673444	0	0
FAM184A	79632	broad.mit.edu	37	6	119345462	119345462	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:119345462C>T	ENST00000338891.7	-	2	1119	c.676G>A	c.(676-678)Gag>Aag	p.E226K	FAM184A_ENST00000522284.1_Missense_Mutation_p.E106K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E106K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E226K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E106K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	226										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GACTCCACCTCCATTCTGTGT	0.433000													7	39					0	0	0.000157383	0	0
UGT2A3	79799	broad.mit.edu	37	4	69811058	69811058	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:69811058C>T	ENST00000251566.4	-	2	860	c.830G>A	c.(829-831)gGa>gAa	p.G277E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	277						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAGTGCAATCCTCCAACAAA	0.363000													9	28					0	0	0.000673444	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968575	21968575	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:21968575T>C	ENST00000268379.4	+	2	817	c.53T>C	c.(52-54)gTt>gCt	p.V18A	UQCRC2_ENST00000561553.1_Missense_Mutation_p.V18A	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	18					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TCCCTCAAAGTTGCCCCCAAA	0.448000													8	27					0	0	0.000442599	0	0
SELE	6401	broad.mit.edu	37	1	169697037	169697037	+	Silent	SNP	C	C	T	rs144324234	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:169697037C>T	ENST00000333360.7	-	9	1450	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	SELE_ENST00000367779.4_Intron|SELE_ENST00000367781.4_Silent_p.P374P|SELE_ENST00000367776.1_Silent_p.P374P|SELE_ENST00000367777.1_Intron|SELE_ENST00000367775.1_Silent_p.P312P|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367780.4_Silent_p.P312P	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	437	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCAAACCCTTCGGGGGCTGGT	0.488000													12	45					0	0	0.000978159	0	0
SALL1	6299	broad.mit.edu	37	16	51173738	51173738	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:51173738G>A	ENST00000440970.1	-	2	2535	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P799S|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	799					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TAGCTGTCGGGGACTGGGGTG	0.507000													17	56					0	0	0.00121646	0	0
DSTYK	25778	broad.mit.edu	37	1	205138706	205138706	+	Silent	SNP	A	A	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:205138706A>G	ENST00000367162.3	-	3	939	c.909T>C	c.(907-909)ctT>ctC	p.L303L	DSTYK_ENST00000367160.4_Silent_p.L303L|DSTYK_ENST00000367161.3_Silent_p.L303L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	303						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GCTGGCGATAAAGCGGTGATC	0.488000													4	29					0	0	0.000602214	0	0
GJD2	57369	broad.mit.edu	37	15	35044924	35044924	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:35044924C>T	ENST00000290374.4	-	2	1197	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	241					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ACATAACATTCCACCTCCTTG	0.483000													5	19					0	0	0.000602214	0	0
MLKL	197259	broad.mit.edu	37	16	74709293	74709293	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:74709293G>A	ENST00000306247.7	-	4	884	c.545C>T	c.(544-546)tCg>tTg	p.S182L	MLKL_ENST00000308807.7_Silent_p.I400I	NM_001142497.1	NP_001135969.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	182							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCCAGAGGACGATTCCAAAGC	0.478000													6	37					0	0	0.00198382	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453419	50453419	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:50453419C>T	ENST00000447370.2	-	11	1995	c.1905G>A	c.(1903-1905)ggG>ggA	p.G635G	SIGLEC11_ENST00000426971.2_Silent_p.G539G|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	635					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTTCCCCCTTCCCCGGGGTGT	0.662000													4	5					0	0	0.00024832	0	0
HOXA2	3199	broad.mit.edu	37	7	27142096	27142096	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:27142096C>T	ENST00000222718.5	-	1	334	c.24G>A	c.(22-24)gaG>gaA	p.E8E		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	8						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TAAAACCAATCTCTCGCTCAA	0.502000													6	43					0	0	0.000157383	0	0
MAP3K5	4217	broad.mit.edu	37	6	136888793	136888793	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:136888793C>T	ENST00000359015.4	-	26	4097	c.3737G>A	c.(3736-3738)gGa>gAa	p.G1246E	MAP3K5_ENST00000355845.4_Missense_Mutation_p.G493E	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1246					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTCATCCTTCCAAGCTGTAC	0.438000													6	20					0	0	0.00116845	0	0
BRDT	676	broad.mit.edu	37	1	92446461	92446461	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:92446461G>A	ENST00000370389.2	+	10	2181	c.1257G>A	c.(1255-1257)agG>agA	p.R419R	BRDT_ENST00000399546.2_Silent_p.R492R|BRDT_ENST00000362005.3_Silent_p.R492R|BRDT_ENST00000394530.3_Silent_p.R446R|BRDT_ENST00000402388.1_Silent_p.R492R	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAAAGAAAAGGAAACAACAGT	0.308000													8	27					0	0	0.000442599	0	0
KRT74	121391	broad.mit.edu	37	12	52967381	52967381	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:52967381A>G	ENST00000549343.1	-	1	219	c.181T>C	c.(181-183)Ttc>Ctc	p.F61L	KRT74_ENST00000305620.2_Missense_Mutation_p.F61L			Q7RTS7	K2C74_HUMAN	keratin 74	61	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCACATTGAAAGAAATACGC	0.612000													4	18					0	0	0.00024832	0	0
GRIK5	2901	broad.mit.edu	37	19	42563645	42563645	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:42563645G>A	ENST00000262895.3	-	5	542	c.543C>T	c.(541-543)ttC>ttT	p.F181F	GRIK5_ENST00000301218.4_Silent_p.F181F|GRIK5_ENST00000593562.1_Silent_p.F181F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	181						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TGGAGATGAGGAAGCCACGCA	0.607000													10	13					0	0	0.000978159	0	0
APOL6	80830	broad.mit.edu	37	22	36055516	36055516	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr22:36055516G>A	ENST00000409652.3	+	3	1181	c.905G>A	c.(904-906)gGg>gAg	p.G302E		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	302					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AGGGCCAGAGGGGTGGGGAAG	0.542000													8	38					0	0	0.000274275	0	0
APP	351	broad.mit.edu	37	21	27327992	27327992	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:27327992G>A	ENST00000358918.3	-	12	1735	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	APP_ENST00000359726.3_Silent_p.F456F|APP_ENST00000357903.3_Silent_p.F493F|APP_ENST00000354192.3_Silent_p.F381F|APP_ENST00000348990.5_Silent_p.F437F|APP_ENST00000448388.2_Silent_p.F402F|APP_ENST00000346798.3_Silent_p.F512F|APP_ENST00000440126.3_Silent_p.F488F|APP_ENST00000439274.2_Silent_p.F456F	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	512	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	p.F512F(2)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACATGCTCGAAATGCTTTA	0.493000													15	38					0	0	0.000308642	0	0
KCNK13	56659	broad.mit.edu	37	14	90651108	90651108	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:90651108G>A	ENST00000282146.4	+	2	1429	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	330						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CATAGAGACAGACGGGGTGGC	0.622000													19	49					0	0	0.000958276	0	0
MTMR14	64419	broad.mit.edu	37	3	9719742	9719742	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:9719742G>A	ENST00000296003.4	+	9	1019	c.897_splice	c.e9+1	p.Q299_splice	MTMR14_ENST00000351233.5_Splice_Site_p.Q299_splice|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Splice_Site_p.Q299_splice	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	299						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GCCAGTATCAGGTGAGGGGCC	0.552000													7	33					0	0	0.000274275	0	0
NPAS4	266743	broad.mit.edu	37	11	66190353	66190353	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:66190353C>T	ENST00000311034.2	+	4	815	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	213	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTCGCTCTTCCTGGCCATGT	0.612000													9	22					0	0	0.000442599	0	0
SFTPB	6439	broad.mit.edu	37	2	85892448	85892448	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:85892448C>T	ENST00000393822.3	-	7	771	c.672G>A	c.(670-672)agG>agA	p.R224R	SFTPB_ENST00000342375.3_Silent_p.R212R|SFTPB_ENST00000409383.1_Silent_p.R224R|SFTPB_ENST00000519937.2_Silent_p.R212R			P07988	PSPB_HUMAN	surfactant protein B	212	Saposin B-type 2.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TGATCAGAGCCCTGCAGAGCC	0.597000													17	88					0	0	0.00121646	0	0
BRINP2	57795	broad.mit.edu	37	1	177250324	177250324	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:177250324C>T	ENST00000361539.4	+	8	2324	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		671						extracellular region		p.P671H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ATGACTGATCCCTCTAAGAAT	0.463000													14	63					0	0	0.000566183	0	0
AXL	558	broad.mit.edu	37	19	41744418	41744418	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:41744418G>A	ENST00000301178.4	+	8	1228	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	AXL_ENST00000359092.3_Silent_p.G346G|AXL_ENST00000593513.1_Silent_p.G78G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	346	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CGCGGAATGGGAGCCAGGCCT	0.667000													6	19					0	0	0.00116845	0	0
OR4K14	122740	broad.mit.edu	37	14	20483005	20483005	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:20483005C>T	ENST00000305045.2	-	1	347	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCATGGAAACCAGGAGCACCA	0.463000													8	37					0	0	0.000274275	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:84117513G>A	ENST00000369705.3	-	2	302	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_ENST00000543031.1_Intron|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	62					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000													18	71					0	0	0.00121646	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43535765	43535765	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:43535765G>A	ENST00000430334.3	-	6	1482	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.P361L|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	450					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTCCCGGGAAGGCCGGTAGAA	0.483000													7	18					0	0	0.00198382	0	0
OR5P2	120065	broad.mit.edu	37	11	7817955	7817955	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:7817955G>A	ENST00000329434.2	-	1	565	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAGTAAGGGAGCGAAATCA	0.403000													7	42					0	0	0.00198382	0	0
DACH1	1602	broad.mit.edu	37	13	72147103	72147103	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:72147103G>A	ENST00000305425.4	-	4	1596	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P444S|DACH1_ENST00000313174.7_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	442					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGCTGACAGGAATTAGAGGG	0.438000													10	28					0	0	0.000978159	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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)			274	79					0	0	0.000781405	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558403	106558403	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:106558403G>A	ENST00000526355.1	-	8	2539	c.2071C>T	c.(2071-2073)Cct>Tct	p.P691S	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P722S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P712S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	691					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			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)		CAGATCCCAGGAATTTCCTTT	0.423000													24	63					0	0	0.00047179	0	0
ECM2	1842	broad.mit.edu	37	9	95277165	95277165	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:95277165C>T	ENST00000344604.5	-	4	951	c.802G>A	c.(802-804)Gga>Aga	p.G268R	ECM2_ENST00000444490.2_Missense_Mutation_p.G246R|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	268					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						tcctccCTTCCTTGGCGTTGT	0.587000													15	83					0	0	0.000422831	0	0
FAM117B	150864	broad.mit.edu	37	2	203589651	203589651	+	Silent	SNP	A	A	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:203589651A>C	ENST00000303116.6	+	3	775	c.33A>C	c.(31-33)gcA>gcC	p.A11A	FAM117B_ENST00000392238.2_Silent_p.A255A	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	255										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CAGAGAGTGCATGGGCTGAAG	0.368000													30	114					0	0	0.00283554	0	0
SYNE1	23345	broad.mit.edu	37	6	152832162	152832162	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:152832162A>T	ENST00000367255.5	-	7	987	c.386T>A	c.(385-387)aTt>aAt	p.I129N	SYNE1_ENST00000448038.1_Missense_Mutation_p.I136N|SYNE1_ENST00000466159.2_Missense_Mutation_p.I129N|SYNE1_ENST00000423061.1_Missense_Mutation_p.I136N|SYNE1_ENST00000413186.2_Missense_Mutation_p.I129N|SYNE1_ENST00000367253.4_Missense_Mutation_p.I129N|SYNE1_ENST00000265368.4_Missense_Mutation_p.I129N|SYNE1_ENST00000367248.3_Missense_Mutation_p.I136N|SYNE1_ENST00000341594.5_Missense_Mutation_p.I129N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	129	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATATAGAATAATGGTCCACAT	0.383000										HNSCC(10;0.0054)			38	121					0	0	0.00222228	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152864	233152864	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:233152864G>A	ENST00000258229.8	-	27	4876	c.4642C>T	c.(4642-4644)Ctc>Ttc	p.L1548F	PCNXL2_ENST00000344698.2_Missense_Mutation_p.L200F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1548						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATCCAGGAGAGGAGTTTGGGA	0.368000													20	75					0	0	0.00121646	0	0
ABHD5	51099	broad.mit.edu	37	3	43753208	43753208	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:43753208C>T	ENST00000458276.2	+	4	637	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	172					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		CAGGGTTAATCATCTCATTTT	0.393000													7	47					0	0	0.00198382	0	0
KRT6A	3853	broad.mit.edu	37	12	52881593	52881593	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:52881593C>A	ENST00000330722.6	-	9	1674	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	536	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCCACCCCCAATGGCTCTG	0.587000													5	43					0.00198382	0.00856521	0.00198382	1	0
LBR	3930	broad.mit.edu	37	1	225591097	225591097	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:225591097G>A	ENST00000338179.2	-	14	1881	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	LBR_ENST00000272163.4_Missense_Mutation_p.R586C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	586					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TACTCGTCACGAGCTTCTCGG	0.403000													15	40					0	0	0.000308642	0	0
CABP5	56344	broad.mit.edu	37	19	48543898	48543898	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:48543898C>T	ENST00000293255.2	-	3	332	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	68	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCAATCAGTTCCATCTCCGTG	0.537000													9	28					0	0	0.000673444	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986949	89986949	+	RNA	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:89986949C>T	ENST00000491977.1	+	0	260																											TATGAAGTTTCCAACCGGTTC	0.522000													6	28					0	0	0.000157383	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657720	18657720	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:18657720C>T	ENST00000380548.4	+	8	1257	c.918C>T	c.(916-918)ttC>ttT	p.F306F	ADAMTSL1_ENST00000276935.6_Silent_p.F306F|ADAMTSL1_ENST00000327883.7_Silent_p.F306F|ADAMTSL1_ENST00000380566.4_Silent_p.F306F	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	306						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGACGGATTTCTTTCCTTGCT	0.468000													12	22					0	0	0.00244969	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702594	27702594	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:27702594G>T	ENST00000438700.3	-	1	703	c.586C>A	c.(586-588)Cgc>Agc	p.R196S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	196					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCGGAGAAGCGGTAGGAGTCG	0.607000													5	44					0.00116845	0.00505679	0.00116845	1	0
SUPT6H	6830	broad.mit.edu	37	17	27020796	27020796	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:27020796T>C	ENST00000314616.6	+	28	3999	c.3716T>C	c.(3715-3717)tTc>tCc	p.F1239S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.F1239S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1239	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTCACCGGCTTCATCCCCACC	0.527000													15	30					0	0	0.000422831	0	0
OSBPL2	9885	broad.mit.edu	37	20	60847231	60847231	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:60847231C>T	ENST00000313733.3	+	5	511	c.309C>T	c.(307-309)ttC>ttT	p.F103F	OSBPL2_ENST00000358053.2_Silent_p.F91F|OSBPL2_ENST00000439951.2_Silent_p.F11F	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	103					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CTCTGAGCTTCTTGCAGCGGA	0.602000													7	33					0	0	0.000157383	0	0
TUBAL3	79861	broad.mit.edu	37	10	5442975	5442975	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:5442975C>T	ENST00000380419.3	-	2	116	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	27					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						ATTCCATGTTCCAGGCAATAG	0.473000													22	30					0	0	0.00152264	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032225	46032225	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:46032225C>T	ENST00000334662.2	+	1	230	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	70	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						TGCCCCAGCCCCCTGCCTGGC	0.657000													4	28					0	0	0.00024832	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065456	55065456	+	RNA	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:55065456C>T	ENST00000526016.1	-	0	252					NR_038174.2																						CTTTGTCTCTCTGTGCATCCC	0.473000													5	9					0	0	0.000602214	0	0
OR2A25	392138	broad.mit.edu	37	7	143771522	143771522	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:143771522C>T	ENST00000408898.2	+	1	248	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	70					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)					TCGTCGACATCGCCTGTGCTT	0.572000													8	24					0	0	0.000673444	0	0
SLC26A8	116369	broad.mit.edu	37	6	35912096	35912096	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:35912096T>C	ENST00000490799.1	-	20	2847	c.2494A>G	c.(2494-2496)Atg>Gtg	p.M832V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.M832V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.M727V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	832	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGCTGCTCATTTTATATCTT	0.388000													8	39					0	0	0.000274275	0	0
MCHR2	84539	broad.mit.edu	37	6	100390896	100390896	+	Silent	SNP	C	C	T	rs140465249	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:100390896C>T	ENST00000281806.2	-	4	830	c.516G>A	c.(514-516)tcG>tcA	p.S172S	MCHR2_ENST00000369212.1_Silent_p.S172S|MCHR2_ENST00000445970.1_Silent_p.S172S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	172						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGATGACCTTCGAGTAGACCC	0.448000													11	54					0	0	0.000673444	0	0
CACNA1S	779	broad.mit.edu	37	1	201052414	201052414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:201052414C>T	ENST00000362061.3	-	10	1495	c.1269G>A	c.(1267-1269)tgG>tgA	p.W423*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.W423*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	423					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)	CATGGCACTTCCAGCGAAAGA	0.557000													16	55					0	0	0.000422831	0	0
PCDH15	65217	broad.mit.edu	37	10	55582378	55582378	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:55582378G>A	ENST00000361849.3	-	34	5508	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1703L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1700L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1663L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1634L|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1680L	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1703					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAGGCCTTGAAGGAGAAAG	0.383000										HNSCC(58;0.16)			4	16					0	0	0.000602214	0	0
KRT6A	3853	broad.mit.edu	37	12	52885512	52885512	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:52885512G>A	ENST00000330722.6	-	2	617	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	183	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCTCCAGGAACCGCACCT	0.542000													6	16					0	0	0.00116845	0	0
TRPV5	56302	broad.mit.edu	37	7	142612698	142612698	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:142612698C>T	ENST00000265310.1	-	9	1511	c.1163G>A	c.(1162-1164)gGg>gAg	p.G388E		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	388					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.G388E(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACCAGCTCCCCCACCAGCCT	0.542000													3	6					0	0	0.00024832	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488801	20488801	+	RNA	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:20488801C>T	ENST00000555186.1	+	0	284					NR_038836.1																						CTCATGAGAACTTTATGTGGA	0.418000													5	95					0	0	0.00198382	0	0
PTPN13	5783	broad.mit.edu	37	4	87696665	87696665	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:87696665C>T	ENST00000436978.1	+	35	6246	c.5766C>T	c.(5764-5766)tcC>tcT	p.S1922S	PTPN13_ENST00000411767.2_Silent_p.S1917S|PTPN13_ENST00000316707.6_Silent_p.S1726S|PTPN13_ENST00000511467.1_Silent_p.S1922S|PTPN13_ENST00000427191.2_Silent_p.S1898S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1917	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCCAAGGTCCGTCGCAGCCA	0.388000													6	9					0	0	0.00116845	0	0
CD1A	909	broad.mit.edu	37	1	158226833	158226833	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:158226833C>T	ENST00000289429.5	+	4	1395	c.862C>T	c.(862-864)Cag>Tag	p.Q288*		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	288	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TCTAGAGGGCCAGGACATCGT	0.582000													6	32					0	0	0.00116845	0	0
KNG1	3827	broad.mit.edu	37	3	186435389	186435389	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:186435389G>A	ENST00000265023.4	+	1	270	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.E20K|KNG1_ENST00000287611.2_Missense_Mutation_p.E20K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	20	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTTAACCCAGGAATCACAGTC	0.413000													12	42					0	0	0.00185496	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796684	62796684	+	RNA	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:62796684G>A	ENST00000582986.1	-	0	1236					NR_024386.1																						GGGTTCCTCAGGCTGGTCTGA	0.682000													5	28					0	0	0.00116845	0	0
XIRP2	129446	broad.mit.edu	37	2	168105599	168105599	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:168105599C>T	ENST00000409195.1	+	9	7786	c.7697C>T	c.(7696-7698)tCt>tTt	p.S2566F	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2566F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2344F|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2391					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGAGAGTTCTTACTACAAC	0.318000													21	66					0	0	0.00188189	0	0
DSG1	1828	broad.mit.edu	37	18	28934929	28934929	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:28934929G>A	ENST00000257192.4	+	15	2982	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E283K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	924					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGTAGTGACAGAAAGAGTAAT	0.453000													32	87					0	0	0.001512	0	0
POT1	25913	broad.mit.edu	37	7	124469351	124469351	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:124469351G>A	ENST00000357628.3	-	16	2149	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	POT1_ENST00000393329.1_Silent_p.S386S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	517					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TATCAACCAGGGAATTTAGAT	0.308000													13	52					0	0	0.00185496	0	0
ACSM4	341392	broad.mit.edu	37	12	7476100	7476100	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:7476100G>A	ENST00000399422.4	+	9	1300	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	418					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CAAAGAAGGGGAAATTGCCCT	0.373000													14	42					0	0	0.000308642	0	0
CA6	765	broad.mit.edu	37	1	9009336	9009336	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:9009336G>A	ENST00000377443.2	+	2	98	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	CA6_ENST00000377442.2_Intron|CA6_ENST00000319474.2_Missense_Mutation_p.E32K|CA6_ENST00000377436.3_Missense_Mutation_p.E32K|CA6_ENST00000476083.1_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	32					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGCACTGGACGAAGCGCACTG	0.627000													6	10					0	0	0.000157383	0	0
GPR101	83550	broad.mit.edu	37	X	136112884	136112884	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:136112884C>T	ENST00000298110.1	-	1	949	c.950G>A	c.(949-951)aGc>aAc	p.S317N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	317						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACCCTCCATGCTGCCGTCGCT	0.587000													36	56					0	0	0.00148497	0	0
FBN2	2201	broad.mit.edu	37	5	127800563	127800563	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:127800563C>T	ENST00000508053.1	-	12	1654	c.680G>A	c.(679-681)gGg>gAg	p.G227E	FBN2_ENST00000262464.4_Missense_Mutation_p.G227E|FBN2_ENST00000508989.1_Missense_Mutation_p.G194E			P35556	FBN2_HUMAN	fibrillin 2	227	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTCAGCTGCCCTTGGCACAT	0.532000													15	30					0	0	0.000422831	0	0
FCRL1	115350	broad.mit.edu	37	1	157771259	157771259	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:157771259C>T	ENST00000368176.3	-	6	1062	c.995G>A	c.(994-996)aGa>aAa	p.R332K	FCRL1_ENST00000491942.1_Missense_Mutation_p.R332K|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	332						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCTATTTTTCTTTTGAGGCC	0.428000													7	23					0	0	0.000157383	0	0
TREML2	79865	broad.mit.edu	37	6	41166074	41166074	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:41166074A>C	ENST00000483722.1	-	2	334	c.149T>G	c.(148-150)gTg>gGg	p.V50G		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	50	Ig-like V-type.		V -> M (in dbSNP:rs35512890).		T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGCCCTCCACGCGGTTTTT	0.552000													24	107					0	0	0.000878237	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501930	150501930	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:150501930G>A	ENST00000484928.1	+	7	1263	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	TMEM176A_ENST00000004103.3_Missense_Mutation_p.E228K|TMEM176A_ENST00000461345.1_Missense_Mutation_p.E169K			Q96HP8	T176A_HUMAN	transmembrane protein 176A	228						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCAGAAGGAAATGTTGGA	0.522000													11	47					0	0	0.00185496	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780807	106780807	+	RNA	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:106780807G>A	ENST00000390612.2	-	0	128																											GCTGCACCTGGGACAGGACCA	0.587000													9	23					0	0	0.000673444	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452068	43452068	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:43452068G>A	ENST00000282388.3	-	2	1168	c.875C>T	c.(874-876)tCc>tTc	p.S292F	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	292					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				cgaagagcaggaggGCGGCGG	0.761000													4	14					0	0	0.00024832	0	0
ISM2	145501	broad.mit.edu	37	14	77944663	77944663	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:77944663C>T	ENST00000393684.3	-	7	1247	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ISM2_ENST00000429906.1_Missense_Mutation_p.E293K|ISM2_ENST00000342219.4_Missense_Mutation_p.E374K|ISM2_ENST00000412904.1_Missense_Mutation_p.E293K|ISM2_ENST00000493585.1_Silent_p.L258L			Q6H9L7	ISM2_HUMAN	isthmin 2	374						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCCTTGTCCTCAGTGCCTTTG	0.627000													17	29					0	0	0.000566183	0	0
GNAI2	2771	broad.mit.edu	37	3	50290554	50290554	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:50290554C>T	ENST00000313601.6	+	4	786	c.402C>T	c.(400-402)gaC>gaT	p.D134D	GNAI2_ENST00000536647.1_Silent_p.D53D|GNAI2_ENST00000266027.5_Silent_p.D118D|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.D97D|GNAI2_ENST00000422163.1_Silent_p.D118D|GNAI2_ENST00000440628.1_Silent_p.D82D	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	134					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TCTGGGCTGACCATGGTGTGC	0.647000													16	114					0	0	0.000958276	0	0
CXorf58	254158	broad.mit.edu	37	X	23933856	23933856	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:23933856C>T	ENST00000379211.3	+	4	805	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	86								p.P86A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GAAAGTGGCCCCCTTAGAGGC	0.353000													4	9					0	0	0.000602214	0	0
RNPEP	6051	broad.mit.edu	37	1	201970888	201970888	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:201970888C>T	ENST00000295640.4	+	8	1462	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	RNPEP_ENST00000367286.3_Silent_p.I434I|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	473					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAGTGGATATCATTCCAGGTA	0.423000													15	69					0	0	0.00244969	0	0
ACTR10	55860	broad.mit.edu	37	14	58701160	58701160	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:58701160G>C	ENST00000254286.4	+	13	1225	c.1145G>C	c.(1144-1146)gGc>gCc	p.G382A	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	382						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATCAGACGGGCCGTATACCT	0.393000													16	46					0	0	0.000422831	0	0
SULT1A2	6799	broad.mit.edu	37	16	28607162	28607162	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:28607162G>A	ENST00000533150.1	-	1	1206	c.90C>T	c.(88-90)ccC>ccT	p.P30P	SULT1A2_ENST00000335715.4_Silent_p.P30P|SULT1A2_ENST00000395630.1_Silent_p.P30P			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	30					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGCTCTGCAGGGGCCCCAGTG	0.637000													8	16					0	0	0.000673444	0	0
GPR176	11245	broad.mit.edu	37	15	40094226	40094226	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:40094226C>T	ENST00000299092.3	-	4	850	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	GPR176_ENST00000561100.1_Missense_Mutation_p.V219M|GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000543580.1_Missense_Mutation_p.V174M	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	219					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AACACCACCACCACAGGCACA	0.557000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	20					0	0	0.00116845	0	0
PARK2	5071	broad.mit.edu	37	6	161990439	161990439	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:161990439G>A	ENST00000366898.1	-	8	983	c.881C>T	c.(880-882)cCc>cTc	p.P294L	PARK2_ENST00000366897.1_Missense_Mutation_p.P266L|PARK2_ENST00000366896.1_Missense_Mutation_p.P145L|PARK2_ENST00000338468.3_Missense_Mutation_p.P103L|PARK2_ENST00000366892.1_Missense_Mutation_p.P294L|PARK2_ENST00000366894.1_Missense_Mutation_p.P103L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	294					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAAGGAGTTGGGACAGCCAGC	0.428000													13	44					0	0	0.00244969	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813566	101813566	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:101813566C>T	ENST00000506729.1	-	3	788		c.e3-1		SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Splice_Site			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1							integral to membrane|plasma membrane	transporter activity			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)		TCGCAAATATCTTTTGAAAAT	0.308000													17	57					0	0	0.000422831	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410904	121410904	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:121410904T>C	ENST00000393667.3	-	14	7417	c.7307A>G	c.(7306-7308)aAc>aGc	p.N2436S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.N2431S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2431					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCCTTTTTGTTCTCCTCTTC	0.383000													14	71					0	0	0.000308642	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529751	5529751	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:5529751G>A	ENST00000311659.4	-	2	1185	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	346										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)		GTAATTGCTGGAGATAGTCAT	0.493000													19	39					0	0	0.000958276	0	0
FBXO34	55030	broad.mit.edu	37	14	55818782	55818782	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:55818782C>T	ENST00000313833.4	+	2	1919	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	FBXO34_ENST00000440021.1_Silent_p.F558F	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	558										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CGCATGACTTCCTGGAGACCA	0.488000													15	54					0	0	0.000308642	0	0
PKP2	5318	broad.mit.edu	37	12	33031217	33031217	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:33031217G>A	ENST00000340811.4	-	3	705	c.597C>T	c.(595-597)atC>atT	p.I199I	PKP2_ENST00000070846.6_Silent_p.I199I	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	199					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.I199I(1)		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)					TGACCCCCACGATCTCGGAAC	0.597000													6	22					0	0	0.00116845	0	0
SHANK2	22941	broad.mit.edu	37	11	70331862	70331862	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:70331862G>A	ENST00000338508.4	-	32	4538	c.4539C>T	c.(4537-4539)acC>acT	p.T1513T	SHANK2_ENST00000449833.2_Silent_p.T917T|SHANK2_ENST00000423696.2_Silent_p.T1133T|SHANK2_ENST00000409161.1_Silent_p.T916T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1133					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGCTAGACACGGTGGAGATAG	0.577000													6	28					0	0	0.00116845	0	0
BRINP2	57795	broad.mit.edu	37	1	177250323	177250323	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:177250323C>T	ENST00000361539.4	+	8	2323	c.2011C>T	c.(2011-2013)Ccc>Tcc	p.P671S	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		671						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GATGACTGATCCCTCTAAGAA	0.458000													14	63					0	0	0.000566183	0	0
SELM	140606	broad.mit.edu	37	22	31501034	31501034	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr22:31501034G>A	ENST00000402395.1	-	7	777	c.360C>T	c.(358-360)ccC>ccT	p.P120P	RP3-412A9.11_ENST00000465536.1_5'UTR|RP3-412A9.11_ENST00000400299.2_Silent_p.P120P																							CCTGCGCGTCGGGCGCCGCCT	0.692000													8	17					0	0	0.000157383	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917697	54917697	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:54917697C>T	ENST00000293373.6	+	20	2192	c.2113C>T	c.(2113-2115)Cct>Tct	p.P705S	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P655S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	705					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TACTATCTTCCCTTCTGAGTA	0.443000													14	43					0	0	0.000308642	0	0
OR8K3	219473	broad.mit.edu	37	11	56086125	56086125	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:56086125C>T	ENST00000312711.1	+	1	343	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACTTTTTATTCTCTCAGCCAT	0.388000													18	57					0	0	0.000566183	0	0
ZHX2	22882	broad.mit.edu	37	8	123965415	123965415	+	Silent	SNP	C	C	T	rs145887684	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:123965415C>T	ENST00000314393.4	+	3	2500	c.1665C>T	c.(1663-1665)acC>acT	p.T555T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	555						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTTTCCTACCCAAGCAGAAC	0.498000													9	33					0	0	0.000673444	0	0
ASPM	259266	broad.mit.edu	37	1	197070021	197070021	+	Missense_Mutation	SNP	A	A	G	rs111685217		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:197070021A>G	ENST00000367409.4	-	18	8616	c.8360T>C	c.(8359-8361)gTt>gCt	p.V2787A	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2787					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCACTTTGAACAGCTTCATA	0.393000													23	82					0	0	0.00047179	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38205261	38205261	+	Silent	SNP	C	C	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:38205261C>A	ENST00000317025.8	-	2	946	c.429G>T	c.(427-429)gtG>gtT	p.V143V	WHSC1L1_ENST00000433384.2_Silent_p.V143V|WHSC1L1_ENST00000316985.3_Silent_p.V143V|WHSC1L1_ENST00000527502.1_Silent_p.V143V	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	143					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTTTGGAATCACAGTTTGTG	0.413000			T	NUP98	AML								16	79					5.35267e-07	2.32758e-06	0.000958276	1	0
OR56A3	390083	broad.mit.edu	37	11	5969480	5969480	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:5969480G>A	ENST00000329564.6	+	1	911	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAACCCAAGAAATTAAGCA	0.413000													9	29					0	0	0.000274275	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611258	62611258	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:62611258G>A	ENST00000281156.4	-	5	780	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGTTCCTGACGAATTTCATCA	0.403000													11	39					0	0	0.00136819	0	0
VPS39	23339	broad.mit.edu	37	15	42453930	42453930	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:42453930G>A	ENST00000318006.5	-	24	2664	c.2502C>T	c.(2500-2502)atC>atT	p.I834I	VPS39_ENST00000348544.4_Silent_p.I845I	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	845					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCTCTGTGATGATGCACTTCA	0.522000													31	116					0	0	0.00058488	0	0
TLL1	7092	broad.mit.edu	37	4	166996152	166996152	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:166996152G>A	ENST00000061240.2	+	17	2958	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	TLL1_ENST00000507499.1_Missense_Mutation_p.E794K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	771					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGATTGCAAGGAAGGTATGGA	0.398000													14	44					0	0	0.000566183	0	0
IKZF3	22806	broad.mit.edu	37	17	37922110	37922110	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:37922110C>T	ENST00000346872.3	-	8	1524	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	IKZF3_ENST00000377958.2_Missense_Mutation_p.R401Q|IKZF3_ENST00000535189.1_Missense_Mutation_p.R454Q|IKZF3_ENST00000583368.1_Missense_Mutation_p.R241Q|IKZF3_ENST00000377952.2_Missense_Mutation_p.R267Q|IKZF3_ENST00000351680.3_Missense_Mutation_p.R449Q|IKZF3_ENST00000394189.2_Missense_Mutation_p.R306Q|IKZF3_ENST00000377945.3_Missense_Mutation_p.R354Q|IKZF3_ENST00000350532.3_Missense_Mutation_p.R449Q|IKZF3_ENST00000346243.3_Missense_Mutation_p.R410Q|IKZF3_ENST00000467757.1_Missense_Mutation_p.R432Q|IKZF3_ENST00000439016.2_Missense_Mutation_p.R393Q|IKZF3_ENST00000439167.2_Missense_Mutation_p.R415Q|IKZF3_ENST00000377944.3_Missense_Mutation_p.R345Q	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	488					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCATGGCTTCGATATCCACA	0.512000													18	60					0	0	0.000958276	0	0
PLK1	5347	broad.mit.edu	37	16	23695351	23695351	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:23695351C>T	ENST00000300093.4	+	5	1088	c.977C>T	c.(976-978)tCg>tTg	p.S326L		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	326					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	p.S326L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCAAGGTTTTCGATTGCTCCC	0.547000													24	77					0	0	0.00178596	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839796	40839796	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:40839796C>T	ENST00000264638.4	+	8	1320	c.1103C>T	c.(1102-1104)cCt>cTt	p.P368L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	368					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCGGAGGCCCTCACAACTTC	0.607000													7	29					0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13814881	13814881	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:13814881C>T	ENST00000265104.4	-	43	7167	c.7063G>A	c.(7063-7065)Gat>Aat	p.D2355N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2355	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTTTGTTATCATCCAAAACA	0.418000									Kartagener syndrome				19	38					0	0	0.00121646	0	0
AQP1	358	broad.mit.edu	37	7	30961812	30961812	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:30961812C>T	ENST00000311813.4	+	2	571	c.516C>T	c.(514-516)atC>atT	p.I172I	AQP1_ENST00000409899.1_Silent_p.I57I|AQP1_ENST00000434909.2_Silent_p.I232I|AQP1_ENST00000409611.1_Silent_p.I121I|AQP1_ENST00000509504.1_Silent_p.I349I|AQP1_ENST00000441328.2_Silent_p.I89I|AQP1_ENST00000482461.1_3'UTR	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				CCCTTGCCATCGGCCTCTCTG	0.682000													4	10					0	0	0.00024832	0	0
OSMR	9180	broad.mit.edu	37	5	38919026	38919026	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:38919026C>T	ENST00000274276.3	+	11	1849	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	483	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAGTTCAGAGCTCCATTCCAT	0.423000													10	27					0	0	0.000673444	0	0
SRCAP	10847	broad.mit.edu	37	16	30731619	30731619	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:30731619C>T	ENST00000262518.4	+	19	3339	c.2954C>T	c.(2953-2955)cCc>cTc	p.P985L	SRCAP_ENST00000395059.2_Missense_Mutation_p.P985L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P985L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	985	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GACCCCCCACCCCGGCCCAAG	0.572000													27	82					0	0	0.00283554	0	0
FAM117B	150864	broad.mit.edu	37	2	203589649	203589649	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:203589649G>C	ENST00000303116.6	+	3	773	c.31G>C	c.(31-33)Gca>Cca	p.A11P	FAM117B_ENST00000392238.2_Missense_Mutation_p.A255P	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	255										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GACAGAGAGTGCATGGGCTGA	0.368000													30	111					0	0	0.00283554	0	0
THSD7A	221981	broad.mit.edu	37	7	11676536	11676536	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:11676536C>T	ENST00000423059.3	-	2	494	c.243G>A	c.(241-243)acG>acA	p.T81T	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	81	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACAGCCCTCGTTTGGATGC	0.458000										HNSCC(18;0.044)			10	51					0	0	0.00136819	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66988913	66988913	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:66988913C>T	ENST00000276570.5	+	4	425	c.138C>T	c.(136-138)caC>caT	p.H46H	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	46	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CCCTGAAACACCATCCAGACA	0.378000													18	80					0	0	0.00121646	0	0
INO80	54617	broad.mit.edu	37	15	41275119	41275119	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:41275119G>A	ENST00000361937.3	-	35	4818	c.4394C>T	c.(4393-4395)gCc>gTc	p.A1465V	INO80_ENST00000401393.3_Missense_Mutation_p.A1465V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1465	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			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						TGCAGCCCCGGCTTTGGCTCC	0.622000													25	51					0	0	0.000878237	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975960	7975960	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:7975960C>T	ENST00000545011.1	+	7	962	c.897C>T	c.(895-897)atC>atT	p.I299I	MAP2K7_ENST00000397981.3_Silent_p.I257I|MAP2K7_ENST00000397983.3_Silent_p.I273I|MAP2K7_ENST00000397979.3_Silent_p.I257I			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	257	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GGGGCCAGATCAAGCTCTGCG	0.642000													5	12					0	0	0.00198382	0	0
LRP6	4040	broad.mit.edu	37	12	12279645	12279645	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:12279645G>A	ENST00000261349.4	-	20	4368	c.4292C>T	c.(4291-4293)tCt>tTt	p.S1431F	LRP6_ENST00000540415.1_Intron|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.S1386F	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1431					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCTGACAAAGAACTTGGGTG	0.453000													44	166					0	0	0.000781405	0	0
DUOX2	50506	broad.mit.edu	37	15	45392980	45392980	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:45392980G>A	ENST00000389039.6	-	23	3363	c.2978C>T	c.(2977-2979)cCt>cTt	p.P993L	DUOX2_ENST00000603300.1_Missense_Mutation_p.P993L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	993	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTCAGTCCAGGGCCTCCCAG	0.592000													6	46					0	0	0.000157383	0	0
OR2J3	442186	broad.mit.edu	37	6	29080214	29080214	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:29080214G>A	ENST00000377169.1	+	1	547	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTTTTTCTGTGAAGTTCCAGC	0.463000													12	37					0	0	0.00136819	0	0
CLPX	10845	broad.mit.edu	37	15	65456425	65456425	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:65456425G>A	ENST00000300107.3	-	5	803	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	205					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GATTAGCTGGGATATTATTAT	0.368000													34	76					0	0	0.00170553	0	0
VEGFA	7422	broad.mit.edu	37	6	43746213	43746213	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:43746213C>T	ENST00000372067.3	+	4	1366	c.872C>T	c.(871-873)cCt>cTt	p.P291L	VEGFA_ENST00000482630.2_Missense_Mutation_p.P291L|VEGFA_ENST00000523873.1_Missense_Mutation_p.P111L|VEGFA_ENST00000417285.2_Missense_Mutation_p.P291L|VEGFA_ENST00000372077.4_Missense_Mutation_p.P111L|VEGFA_ENST00000425836.2_Missense_Mutation_p.P291L|VEGFA_ENST00000523125.1_Missense_Mutation_p.P111L|VEGFA_ENST00000520948.1_Missense_Mutation_p.P111L|VEGFA_ENST00000523950.1_Missense_Mutation_p.P111L|VEGFA_ENST00000518689.1_Missense_Mutation_p.P111L|VEGFA_ENST00000372055.4_Missense_Mutation_p.P291L|VEGFA_ENST00000324450.6_Missense_Mutation_p.P291L|VEGFA_ENST00000372064.4_Missense_Mutation_p.P291L|VEGFA_ENST00000518824.1_Missense_Mutation_p.P111L|VEGFA_ENST00000457104.2_Missense_Mutation_p.P111L|VEGFA_ENST00000413642.3_Missense_Mutation_p.P291L|VEGFA_ENST00000230480.6_Missense_Mutation_p.P83L	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	111					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CGGATCAAACCTCACCAAGGC	0.517000													4	12					0	0	0.000602214	0	0
BRINP1	1620	broad.mit.edu	37	9	121929936	121929936	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:121929936T>C	ENST00000265922.3	-	8	2173	c.1712A>G	c.(1711-1713)cAt>cGt	p.H571R	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		571					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						GCCCTCCGAATGGCTCCCGCT	0.552000													12	16					0	0	0.00136819	0	0
MARCO	8685	broad.mit.edu	37	2	119739012	119739012	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:119739012G>A	ENST00000541757.1	+	10	940	c.560G>A	c.(559-561)gGa>gAa	p.G187E	MARCO_ENST00000327097.4_Missense_Mutation_p.G265E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	265	Collagen-like.				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						GGCATGAAAGGAGATGCAGGG	0.562000													5	9					0	0	0.00198382	0	0
MUC6	4588	broad.mit.edu	37	11	1021237	1021237	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:1021237C>T	ENST00000421673.2	-	27	3617	c.3567G>A	c.(3565-3567)gaG>gaA	p.E1189E		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1189					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACACCCCCTCCTCGTGGTCGA	0.627000													3	6					0	0	0.00024832	0	0
TUBE1	51175	broad.mit.edu	37	6	112393144	112393144	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:112393144C>A	ENST00000368662.5	-	11	1308	c.1230G>T	c.(1228-1230)atG>atT	p.M410I	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	410					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTTTCAGTTCCATGAAGGTGG	0.393000													17	43					3.32936e-07	1.45122e-06	0.00074312	1	0
SYCP2L	221711	broad.mit.edu	37	6	10898272	10898272	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:10898272G>A	ENST00000283141.6	+	5	661	c.365G>A	c.(364-366)gGa>gAa	p.G122E	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	122						nucleus		p.G122E(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAACAACAGGAATTCTGACC	0.418000													17	35					0	0	0.00074312	0	0
MYO16	23026	broad.mit.edu	37	13	109661278	109661278	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:109661278C>T	ENST00000356711.2	+	22	2536	c.2410C>T	c.(2410-2412)Cac>Tac	p.H804Y	MYO16_ENST00000457511.2_Missense_Mutation_p.H316Y|MYO16_ENST00000251041.5_Missense_Mutation_p.H804Y|MYO16_ENST00000357550.2_Missense_Mutation_p.H804Y	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	804	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAAGATGCACCACTATATCAA	0.403000													10	29					0	0	0.000673444	0	0
OR4N5	390437	broad.mit.edu	37	14	20612776	20612776	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:20612776G>A	ENST00000333629.1	+	1	882	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	294					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)		ACCAGGAGGTGAAAGCTTCCA	0.403000													16	51					0	0	0.000566183	0	0
GPR112	139378	broad.mit.edu	37	X	135498645	135498645	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:135498645C>T	ENST00000394143.1	+	26	9529	c.9238C>T	c.(9238-9240)Cct>Tct	p.P3080S	GPR112_ENST00000412101.1_Missense_Mutation_p.P2875S|GPR112_ENST00000394141.1_Missense_Mutation_p.P2875S|GPR112_ENST00000370652.1_Missense_Mutation_p.P3080S|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3080					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTTCCTCTCCTTGATTTGT	0.368000													13	19					0	0	0.000422831	0	0
CD163	9332	broad.mit.edu	37	12	7640024	7640024	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:7640024C>T	ENST00000359156.4	-	8	2183	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	CD163_ENST00000541972.1_Missense_Mutation_p.D649N|CD163_ENST00000432237.2_Missense_Mutation_p.D661N|CD163_ENST00000396620.3_Missense_Mutation_p.D694N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	661	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGGACAATCTCCCATGTGC	0.507000													14	40					0	0	0.00244969	0	0
ITGAE	3682	broad.mit.edu	37	17	3657180	3657180	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:3657180G>A	ENST00000263087.4	-	13	1522	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	475					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CGCGATGTAGGAGAGGCTGCA	0.627000													7	25					0	0	0.00198382	0	0
OR2M7	391196	broad.mit.edu	37	1	248487835	248487835	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:248487835G>A	ENST00000317965.2	-	1	64	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	12					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)			CCAGGAGGAGGAAGTCAGAGT	0.458000													29	131					0	0	0.00283554	0	0
ITIH2	3698	broad.mit.edu	37	10	7751049	7751049	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:7751049C>T	ENST00000358415.4	+	4	423	c.257C>T	c.(256-258)gCc>gTc	p.A86V	ITIH2_ENST00000480387.1_Intron|ITIH2_ENST00000379587.4_Missense_Mutation_p.A75V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	86	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTCGGATGGCCACCACCATG	0.428000													11	31					0	0	0.000673444	0	0
GPR119	139760	broad.mit.edu	37	X	129518464	129518464	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:129518464C>T	ENST00000276218.2	-	1	1047	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	320						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CAGGAACTTTCCCTGGGCCTC	0.542000													17	21					0	0	0.00121646	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719920	50719920	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr22:50719920G>A	ENST00000449103.1	-	22	3671	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	PLXNB2_ENST00000359337.4_Silent_p.F1177F			O15031	PLXB2_HUMAN	plexin B2	1177					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)		CGCGAGAGCCGAACTTCACCT	0.687000													7	23					0	0	0.00198382	0	0
OR5D13	390142	broad.mit.edu	37	11	55540913	55540913	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:55540913C>T	ENST00000361760.1	+	1	0		c.e1-1			NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CAACAAGTATCATGATGGCAT	0.373000													13	48					0	0	0.00136819	0	0
DCTN4	51164	broad.mit.edu	37	5	150090912	150090912	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:150090912G>A	ENST00000447998.2	-	13	1297	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	DCTN4_ENST00000446090.2_Silent_p.F401F|DCTN4_ENST00000424236.1_Silent_p.F337F	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	394						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCTTTCTGAAGGCTATAA	0.373000													16	24					0	0	0.000308642	0	0
LNX2	222484	broad.mit.edu	37	13	28127488	28127488	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:28127488G>A	ENST00000316334.3	-	8	1764	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	545	PDZ 3.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAACAGCAGGGGACGCGGCAC	0.488000													11	54					0	0	0.00136819	0	0
RHOQ	23433	broad.mit.edu	37	2	46770907	46770907	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:46770907G>C	ENST00000238738.4	+	2	476	c.157G>C	c.(157-159)Ggg>Cgg	p.G53R	RHOQ_ENST00000465198.1_Intron	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	53					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGTCACCGTGGGGGGCAAGCA	0.642000													3	10					0	0	0.00024832	0	0
ITGBL1	9358	broad.mit.edu	37	13	102359193	102359193	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:102359193C>T	ENST00000376180.3	+	9	1439	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	ITGBL1_ENST00000545560.2_Missense_Mutation_p.T266M|ITGBL1_ENST00000376162.3_Missense_Mutation_p.T314M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	407	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.T407M(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTAACATGACGGAAGAACAA	0.517000													8	70					0	0	0.000274275	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703815	187703815	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:187703815C>T	ENST00000295131.2	-	4	404	c.365G>A	c.(364-366)gGa>gAa	p.G122E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	122					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTCATTTGTTCCTGGTTGGGG	0.403000													32	99					0	0	0.00209593	0	0
FLT1	2321	broad.mit.edu	37	13	29004206	29004206	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:29004206G>A	ENST00000282397.4	-	8	1338	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	FLT1_ENST00000539099.1_Missense_Mutation_p.P363S|FLT1_ENST00000541932.1_Missense_Mutation_p.P363S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	363	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCCGGCGAGGGAAATGCCTTC	0.448000													21	59					0	0	0.00047179	0	0
CDH8	1006	broad.mit.edu	37	16	61761011	61761011	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:61761011C>T	ENST00000577390.1	-	9	2477	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	CDH8_ENST00000584337.1_Missense_Mutation_p.G508E|CDH8_ENST00000577730.1_Missense_Mutation_p.G508E|CDH8_ENST00000299345.6_Missense_Mutation_p.G508E	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	508	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCCGGGTTTTCCATTTTCACA	0.378000													10	42					0	0	0.00136819	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805643	20805643	+	RNA	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:20805643G>A	ENST00000577537.1	+	0	827				RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA																							AGACGACGACGAAGTCTCCCA	0.557000													9	39					0	0	0.000274275	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080748	148080748	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:148080748G>A	ENST00000361727.3	+	22	3999	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.G220G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1161	Laminin G-like 4.				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)			TAGAAACAGGGAAAATTGACC	0.433000										HNSCC(39;0.1)			10	26					0	0	0.000978159	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:22382594G>A	ENST00000328795.4	+	1	213	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	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													21	264					0	0	0.00188189	0	0
SPEG	10290	broad.mit.edu	37	2	220333434	220333434	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:220333434C>T	ENST00000312358.7	+	11	3409	c.3277C>T	c.(3277-3279)Cct>Tct	p.P1093S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1093	Ig-like 5.				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)		CACCCCGCCCCCTGTTGTTAC	0.657000													6	27					0	0	0.00198382	0	0
DSCAM	1826	broad.mit.edu	37	21	41414514	41414514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:41414514C>T	ENST00000400454.1	-	32	5947	c.5470G>A	c.(5470-5472)Gaa>Aaa	p.E1824K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1824					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)				AGTTGCTCTTCCATCTTGGCG	0.537000													11	33					0	0	0.000978159	0	0
ERCC1	2067	broad.mit.edu	37	19	45924602	45924602	+	Missense_Mutation	SNP	G	G	A	rs149666093	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:45924602G>A	ENST00000300853.3	-	3	746	c.155C>T	c.(154-156)tCg>tTg	p.S52L	ERCC1_ENST00000340192.7_Missense_Mutation_p.S52L|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Missense_Mutation_p.S52L|ERCC1_ENST00000589165.1_Missense_Mutation_p.S52L|ERCC1_ENST00000013807.5_Missense_Mutation_p.S52L	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	52					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CGCCTGGGCCGAGGTGTCCAC	0.637000								Nucleotide excision repair (NER)					9	20					0	0	0.000673444	0	0
PDE8B	8622	broad.mit.edu	37	5	76633115	76633115	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:76633115G>A	ENST00000264917.5	+	6	817	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	PDE8B_ENST00000346042.3_Missense_Mutation_p.E258K|PDE8B_ENST00000340978.3_Missense_Mutation_p.E258K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E258K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E238K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	258					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AGAACATGGGGAAGTTCGCTC	0.333000													40	187					0	0	0.000781405	0	0
C6	729	broad.mit.edu	37	5	41186273	41186273	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:41186273G>A	ENST00000263413.3	-	6	889	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	C6_ENST00000337836.5_Missense_Mutation_p.L209F|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	209	MACPF.				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)				GAGTTATCAAGGACTTCTCCT	0.388000													4	29					0	0	0.000602214	0	0
AJAP1	55966	broad.mit.edu	37	1	4832501	4832501	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:4832501G>A	ENST00000378191.4	+	4	1460	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	AJAP1_ENST00000378190.3_Missense_Mutation_p.C360Y	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	360	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCTCACGAGTGCGTCAGGGCA	0.592000													6	6					0	0	0.00116845	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324854	150324854	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:150324854C>T	ENST00000328902.5	-	3	1048	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	278							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTCAGATTCCTTCTGGATC	0.572000													9	36					0	0	0.00136819	0	0
ZNF664	144348	broad.mit.edu	37	12	124496840	124496840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:124496840G>A	ENST00000539644.1	+	6	1979	c.149G>A	c.(148-150)tGg>tAg	p.W50*	ZNF664_ENST00000392404.3_Nonsense_Mutation_p.W50*|ZNF664_ENST00000337815.4_Nonsense_Mutation_p.W50*|ZNF664_ENST00000538932.2_Nonsense_Mutation_p.W50*|RP11-522N14.1_ENST00000540762.1_RNA			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CATATTCATTGGAGAGACCAT	0.353000													8	81					0	0	0.000157383	0	0
CNBD2	140894	broad.mit.edu	37	20	34572599	34572599	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:34572599G>A	ENST00000373973.3	+	6	788	c.615G>A	c.(613-615)atG>atA	p.M205I	CNBD2_ENST00000538900.1_Missense_Mutation_p.M205I|CNBD2_ENST00000349339.1_Missense_Mutation_p.M205I					cyclic nucleotide binding domain containing 2																		TCGTCTGTATGGAAGAAACGG	0.502000													9	34					0	0	0.000442599	0	0
GRM7	2917	broad.mit.edu	37	3	7721964	7721964	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:7721964G>A	ENST00000486284.1	+	9	2954	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	GRM7_ENST00000389336.4_Missense_Mutation_p.E894K|GRM7_ENST00000402647.2_Missense_Mutation_p.E894K|GRM7_ENST00000403881.1_Missense_Mutation_p.E894K|GRM7_ENST00000357716.4_Missense_Mutation_p.E894K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	894					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CGAGCTCTGTGAAAACGTAGA	0.527000													5	20					0	0	0.000602214	0	0
ITGA8	8516	broad.mit.edu	37	10	15639291	15639291	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr10:15639291C>T	ENST00000378076.3	-	21	2479	c.2126G>A	c.(2125-2127)cGa>cAa	p.R709Q	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	709					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTCAGTGGTCGAAATCCCTA	0.502000													10	28					0	0	0.000978159	0	0
NRXN1	9378	broad.mit.edu	37	2	50724774	50724774	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:50724774G>A	ENST00000404971.1	-	15	4035	c.2696C>T	c.(2695-2697)tCt>tTt	p.S899F	NRXN1_ENST00000406316.2_Missense_Mutation_p.S859F|NRXN1_ENST00000405472.3_Missense_Mutation_p.S851F|NRXN1_ENST00000406859.3_Missense_Mutation_p.S859F|NRXN1_ENST00000402717.3_Missense_Mutation_p.S851F|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.S859F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	859					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)			GGGGACAGAAGAAAGATACCG	0.418000													8	25					0	0	0.000274275	0	0
EIF2D	1939	broad.mit.edu	37	1	206770521	206770521	+	Silent	SNP	T	T	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:206770521T>C	ENST00000271764.2	-	12	1525	c.1317A>G	c.(1315-1317)ctA>ctG	p.L439L	EIF2D_ENST00000367114.3_Silent_p.L315L	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	439					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGCAGTCACATAGGATGGGAT	0.448000													7	27					0	0	0.000274275	0	0
SUPT6H	6830	broad.mit.edu	37	17	27020797	27020797	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:27020797C>T	ENST00000314616.6	+	28	4000	c.3717C>T	c.(3715-3717)ttC>ttT	p.F1239F	SUPT6H_ENST00000347486.4_Silent_p.F1239F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1239	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCACCGGCTTCATCCCCACCA	0.527000													15	30					0	0	0.000422831	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296076	233296076	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:233296076G>A	ENST00000258229.8	-	19	3704	c.3470C>T	c.(3469-3471)tCa>tTa	p.S1157L	PCNXL2_ENST00000488780.2_Missense_Mutation_p.S290L|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1157						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AATGGGGTGTGAAATCCACAT	0.443000													10	45					0	0	0.00136819	0	0
CASR	846	broad.mit.edu	37	3	122002676	122002676	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:122002676C>T	ENST00000498619.1	+	7	2343	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	CASR_ENST00000296154.5_Silent_p.F625F|CASR_ENST00000490131.1_Silent_p.F625F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	625					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)	TGGGCATTTTCCTGACAGCCT	0.552000													10	32					0	0	0.000673444	0	0
RGS22	26166	broad.mit.edu	37	8	101014533	101014533	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:101014533C>T	ENST00000360863.6	-	18	2881	c.2687G>A	c.(2686-2688)cGa>cAa	p.R896Q	RGS22_ENST00000523287.1_Missense_Mutation_p.R715Q|RGS22_ENST00000523437.1_Missense_Mutation_p.R884Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	896	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTTTGATTTCGATCTCTGTA	0.338000													5	32					0	0	0.000602214	0	0
ABCA13	154664	broad.mit.edu	37	7	48259057	48259057	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:48259057G>A	ENST00000435803.1	+	4	418	c.394G>A	c.(394-396)Gca>Aca	p.A132T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	132					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATGGACAAGGCAAAAAACTT	0.428000													13	66					0	0	0.00244969	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576270	158576270	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:158576270C>T	ENST00000361284.1	+	1	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATTTTGTCTTCCTGGGCTTCT	0.473000													13	52					0	0	0.00185496	0	0
COX6A1	1337	broad.mit.edu	37	12	120875936	120875936	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:120875936G>A	ENST00000229379.2	+	1	44	c.7G>A	c.(7-9)Gta>Ata	p.V3I		NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	3					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAAATGGCGGTAGTTGGTGT	0.612000													4	13					0	0	0.000602214	0	0
OBSCN	84033	broad.mit.edu	37	1	228400271	228400271	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:228400271G>C	ENST00000570156.2	+	2	861	c.787G>C	c.(787-789)Ggc>Cgc	p.G263R	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.G263R|OBSCN_ENST00000422127.1_Missense_Mutation_p.G263R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	263	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACGTGACCGGCGAGCCCAA	0.706000													4	51					0	0	0.000602214	0	0
SLC18A1	6570	broad.mit.edu	37	8	20031896	20031896	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:20031896C>T	ENST00000440926.1	-	6	1077	c.607G>A	c.(607-609)Gga>Aga	p.G203R	SLC18A1_ENST00000437980.1_Missense_Mutation_p.G203R|SLC18A1_ENST00000265808.7_Missense_Mutation_p.G203R|SLC18A1_ENST00000519026.1_Missense_Mutation_p.G203R|SLC18A1_ENST00000276373.5_Missense_Mutation_p.G203R|SLC18A1_ENST00000381608.4_Missense_Mutation_p.G203R|SLC18A1_ENST00000524272.1_5'UTR	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	203					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AATGAAGATCCAATGCCTTGA	0.448000													4	37					0	0	0.00116845	0	0
ADCY7	113	broad.mit.edu	37	16	50342697	50342697	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:50342697C>T	ENST00000394697.2	+	17	2395	c.2055C>T	c.(2053-2055)atC>atT	p.I685I	ADCY7_ENST00000254235.3_Silent_p.I685I|ADCY7_ENST00000566433.2_Silent_p.I685I|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.I685I			P51828	ADCY7_HUMAN	adenylate cyclase 7	685					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGGCCATCATCAACCTGGTGG	0.622000													6	23					0	0	0.00198382	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496630	20496630	+	RNA	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:20496630G>A	ENST00000555186.1	+	0	683					NR_038836.1																						TCATGAAGGGGAAGCCGAGGG	0.438000													5	75					0	0	0.000602214	0	0
IGSF9	57549	broad.mit.edu	37	1	159907562	159907562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:159907562C>T	ENST00000368094.1	-	4	511	c.314G>A	c.(313-315)tGg>tAg	p.W105*	IGSF9_ENST00000361509.3_Nonsense_Mutation_p.W105*	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	105	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTCGTACCAGCCCTGGTC	0.592000													7	32					0	0	0.00198382	0	0
OR2K2	26248	broad.mit.edu	37	9	114089805	114089805	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:114089805C>G	ENST00000374428.1	-	1	995	c.996G>C	c.(994-996)ttG>ttC	p.L332F	OR2K2_ENST00000302681.1_Missense_Mutation_p.L303F			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	332					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TTTTGCCCAGCAATTTCTTCA	0.413000													4	28					0	0	0.00024832	0	0
FAM13A	10144	broad.mit.edu	37	4	89653209	89653209	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:89653209T>A	ENST00000264344.5	-	22	2994	c.2787A>T	c.(2785-2787)aaA>aaT	p.K929N	FAM13A_ENST00000395002.2_Missense_Mutation_p.K575N|FAM13A_ENST00000503556.1_Missense_Mutation_p.K589N|FAM13A_ENST00000511976.1_Missense_Mutation_p.K515N|FAM13A_ENST00000508369.1_Missense_Mutation_p.K603N|FAM13A_ENST00000513837.1_Missense_Mutation_p.K575N	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	929					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTGATGGTATTTTATCATCCA	0.418000													12	22					0	0	0.00136819	0	0
FAM131A	131408	broad.mit.edu	37	3	184062315	184062315	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:184062315C>T	ENST00000310585.4	+	3	1929	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F	FAM131A_ENST00000453072.1_Missense_Mutation_p.L135F|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Missense_Mutation_p.L97F|FAM131A_ENST00000383847.2_Missense_Mutation_p.L220F|FAM131A_ENST00000450976.1_Missense_Mutation_p.L135F|FAM131A_ENST00000340957.5_Missense_Mutation_p.L135F			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	189						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCCGCACCTCCAGGACCT	0.632000													14	66					0	0	0.000422831	0	0
HAUS1	115106	broad.mit.edu	37	18	43685196	43685196	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:43685196C>T	ENST00000282058.6	+	2	147	c.67C>T	c.(67-69)Cct>Tct	p.P23S	HAUS1_ENST00000585518.1_Missense_Mutation_p.P23S	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	23					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TGGAGATCATCCTATTCCACA	0.403000													6	23					0	0	0.00198382	0	0
GRIA2	2891	broad.mit.edu	37	4	158242620	158242620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:158242620C>T	ENST00000296526.7	+	6	1076	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	GRIA2_ENST00000264426.9_Nonsense_Mutation_p.Q251*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.Q204*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.Q204*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.Q204*	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	251					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATTAAAAATCCAGTTTGGAGG	0.333000													17	50					0	0	0.00152264	0	0
ACACB	32	broad.mit.edu	37	12	109634839	109634839	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:109634839C>T	ENST00000338432.7	+	17	2627	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F	ACACB_ENST00000377848.3_Silent_p.F836F|ACACB_ENST00000377854.5_Silent_p.F836F			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	836					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGACCATGTTCGTTCTCATCA	0.587000													9	9					0	0	0.000673444	0	0
MYH1	4619	broad.mit.edu	37	17	10419889	10419889	+	Missense_Mutation	SNP	C	C	T	rs61730792	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:10419889C>T	ENST00000226207.5	-	3	165	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	24	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R24Q(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCTTCAATTCGCTCCCTTTC	0.507000													18	56					0	0	0.00152264	0	0
BTNL8	79908	broad.mit.edu	37	5	180377220	180377220	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:180377220C>T	ENST00000340184.4	+	8	1385	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Silent_p.P277P|BTNL8_ENST00000400707.3_Silent_p.P268P|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Silent_p.P209P|BTNL8_ENST00000505126.1_Silent_p.P186P	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	393	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-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)			CATTAAATCCCCGTTTTATCA	0.468000													11	14					0	0	0.000673444	0	0
STAB2	55576	broad.mit.edu	37	12	104092978	104092978	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:104092978C>T	ENST00000388887.2	+	34	3891	c.3687C>T	c.(3685-3687)ttC>ttT	p.F1229F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1229	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCTCCTATTTCCTTAGCTTCT	0.473000													4	24					0	0	0.00024832	0	0
DDX60L	91351	broad.mit.edu	37	4	169315758	169315758	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:169315758C>T	ENST00000511577.1	-	28	3915	c.3668G>A	c.(3667-3669)aGg>aAg	p.R1223K	DDX60L_ENST00000505890.1_Missense_Mutation_p.R1224K|DDX60L_ENST00000260184.7_Missense_Mutation_p.R1223K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1223	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CGGTAATACCCTCTCCAAAGT	0.358000													12	25					0	0	0.00185496	0	0
ITSN2	50618	broad.mit.edu	37	2	24533444	24533444	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:24533444G>A	ENST00000355123.4	-	6	913	c.470C>T	c.(469-471)cCc>cTc	p.P157L	ITSN2_ENST00000406921.3_Missense_Mutation_p.P157L|ITSN2_ENST00000361999.3_Missense_Mutation_p.P157L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	157					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCACTAGGGGAGTGGGCAT	0.463000													10	37					0	0	0.00185496	0	0
TMEM199	147007	broad.mit.edu	37	17	26688180	26688180	+	Splice_Site	SNP	G	G	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:26688180G>T	ENST00000292114.3	+	6	623	c.531_splice	c.e6-1	p.R178_splice	CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_Splice_Site_p.R4_splice|TMEM199_ENST00000509083.1_Intron	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	178						integral to membrane		p.R178L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CATCTCCAGCGGGTGCTAGCT	0.582000													5	50					0.00116845	0.00505679	0.00116845	1	0
OTOP3	347741	broad.mit.edu	37	17	72937810	72937810	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:72937810C>T	ENST00000328801.4	+	2	396	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	132						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGTCCTCTCCCTGCTTTGGC	0.622000													4	29					0	0	0.000602214	0	0
ENC1	8507	broad.mit.edu	37	5	73931223	73931223	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:73931223G>A	ENST00000302351.4	-	2	2218	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	ENC1_ENST00000537006.1_Missense_Mutation_p.T363I|ENC1_ENST00000510316.1_Missense_Mutation_p.T290I	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	363					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTCGTGCAGGGTATCATAAAC	0.547000													8	27					0	0	0.000157383	0	0
UMODL1	89766	broad.mit.edu	37	21	43504239	43504239	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:43504239C>T	ENST00000400427.1	+	3	545	c.149C>T	c.(148-150)cCc>cTc	p.P50L	UMODL1_ENST00000408910.2_Missense_Mutation_p.P122L|UMODL1_ENST00000408989.2_Missense_Mutation_p.P122L|UMODL1_ENST00000400424.1_Missense_Mutation_p.P50L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	122	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGGCCTGCCCCGCAGAGGGG	0.562000													17	48					0	0	0.000422831	0	0
MNDA	4332	broad.mit.edu	37	1	158815426	158815426	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:158815426C>T	ENST00000368141.4	+	5	881	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	207	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGAAATGTTCCCCAAAACGAC	0.468000													7	21					0	0	0.00198382	0	0
KLHL13	90293	broad.mit.edu	37	X	117032951	117032951	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:117032951G>A	ENST00000371876.1	-	6	4156	c.1735C>T	c.(1735-1737)Cgt>Tgt	p.R579C	KLHL13_ENST00000371878.1_Missense_Mutation_p.R579C|KLHL13_ENST00000545703.1_Missense_Mutation_p.R588C|KLHL13_ENST00000541812.1_Missense_Mutation_p.R614C|KLHL13_ENST00000371882.1_Missense_Mutation_p.R579C|KLHL13_ENST00000540167.1_Missense_Mutation_p.R614C|KLHL13_ENST00000539496.1_Missense_Mutation_p.R633C|KLHL13_ENST00000262820.3_Missense_Mutation_p.R630C|KLHL13_ENST00000469946.1_Missense_Mutation_p.R579C			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	630					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTGCAAGCACGAATGCCACCA	0.418000													16	19					0	0	0.00074312	0	0
ACSM5	54988	broad.mit.edu	37	16	20448487	20448487	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:20448487G>A	ENST00000331849.4	+	11	1569	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	474					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACGACGATGTGATCAATTCTT	0.478000													19	70					0	0	0.000720815	0	0
RGS7	6000	broad.mit.edu	37	1	240966273	240966273	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:240966273C>T	ENST00000366565.1	-	16	1671	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	RGS7_ENST00000366564.1_Missense_Mutation_p.M430I|RGS7_ENST00000366562.4_Missense_Mutation_p.M430I|RGS7_ENST00000331110.7_Missense_Mutation_p.M404I|RGS7_ENST00000401882.1_Missense_Mutation_p.M377I|RGS7_ENST00000446183.2_Missense_Mutation_p.M346I|RGS7_ENST00000348120.2_Missense_Mutation_p.M377I|RGS7_ENST00000407727.1_Missense_Mutation_p.M430I|RGS7_ENST00000366563.1_Missense_Mutation_p.M430I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	430	RGS.				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)			AATCACTTTTCATCAGTTTGT	0.348000													16	92					0	0	0.000958276	0	0
ZNF674	641339	broad.mit.edu	37	X	46359367	46359367	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:46359367A>G	ENST00000523374.1	-	6	1867	c.1657T>C	c.(1657-1659)Tat>Cat	p.Y553H	ZNF674_ENST00000414387.2_Missense_Mutation_p.Y547H	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						CTGCATTCATAAGGTTTCTCT	0.398000													4	6					0	0	0.000602214	0	0
GPX6	257202	broad.mit.edu	37	6	28473580	28473580	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:28473580C>T	ENST00000361902.1	-	4	409		c.e4-1		GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)						response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACACACATACCTGCAGTGAAC	0.423000													7	34					0	0	0.000442599	0	0
ABCC11	85320	broad.mit.edu	37	16	48226507	48226507	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:48226507C>T	ENST00000394747.1	-	19	2979	c.2630G>A	c.(2629-2631)gGg>gAg	p.G877E	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.G877E|ABCC11_ENST00000356608.2_Missense_Mutation_p.G877E|ABCC11_ENST00000394748.1_Missense_Mutation_p.G877E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	877	ABC transmembrane type-1 2.					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)				GGAGCAGACCCCCACACAGAT	0.572000													9	26					0	0	0.000442599	0	0
AFF4	27125	broad.mit.edu	37	5	132238168	132238168	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:132238168G>A	ENST00000265343.5	-	7	1478	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	AFF4_ENST00000378595.3_Missense_Mutation_p.P367S	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	367	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTTTAGAAGGATTATATCTT	0.289000													15	30					0	0	0.00074312	0	0
HTR5A	3361	broad.mit.edu	37	7	154876080	154876080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:154876080G>A	ENST00000287907.2	+	2	1533	c.957G>A	c.(955-957)tgG>tgA	p.W319*	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	319						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCGCCATCTGGAAAAGCATCT	0.522000													22	70					0	0	0.00229938	0	0
TRPM2	7226	broad.mit.edu	37	21	45815418	45815418	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:45815418G>A	ENST00000397928.1	+	12	2361	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	TRPM2_ENST00000300482.5_Missense_Mutation_p.G639E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.G619E|TRPM2_ENST00000397932.2_Missense_Mutation_p.G639E	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	639						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAGCTGGCAGGAATCATCTGG	0.577000													18	53					0	0	0.000958276	0	0
DMD	1756	broad.mit.edu	37	X	32509577	32509577	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:32509577G>A	ENST00000357033.4	-	20	2645	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	DMD_ENST00000378677.2_Silent_p.I809I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	813					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGCAGAATTCGATCCACCGGC	0.403000													5	10					0	0	0.000602214	0	0
MEGF10	84466	broad.mit.edu	37	5	126755745	126755745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:126755745G>A	ENST00000274473.6	+	13	1703	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	MEGF10_ENST00000508365.1_Missense_Mutation_p.G479E|MEGF10_ENST00000503335.2_Missense_Mutation_p.G479E|MEGF10_ENST00000418761.2_Missense_Mutation_p.G479E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	479	EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.G479E(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGCTGGCACGGGGTGGACTGC	0.572000													7	19					0	0	0.000157383	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402628	136402628	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:136402628G>A	ENST00000393061.3	+	3	951	c.519G>A	c.(517-519)ggG>ggA	p.G173G	ADAMTSL2_ENST00000354484.4_Silent_p.G64G|ADAMTSL2_ENST00000393060.1_Silent_p.G64G			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	64					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCAGTTGCGGGGGTGGGGTGA	0.677000													12	28					0	0	0.00185496	0	0
OR4C12	283093	broad.mit.edu	37	11	50003858	50003858	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:50003858G>A	ENST00000335238.4	-	1	213	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F60F(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGTGGGTCAGGAAGAAGTACA	0.408000													6	40					0	0	0.000157383	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114181	117114181	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:117114181C>T	ENST00000310357.3	-	6	1926	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V	GPRC6A_ENST00000368549.3_Silent_p.V564V|GPRC6A_ENST00000530250.1_Silent_p.V460V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	635					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGAGAAGGATCACATAGCAGA	0.408000													9	39					0	0	0.000274275	0	0
FOXP1	27086	broad.mit.edu	37	3	71037191	71037191	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:71037191G>C	ENST00000318789.4	-	14	1625	c.1100C>G	c.(1099-1101)aCc>aGc	p.T367S	FOXP1_ENST00000475937.1_Missense_Mutation_p.T367S|FOXP1_ENST00000491238.1_Missense_Mutation_p.T369S|FOXP1_ENST00000498215.1_Missense_Mutation_p.T367S|FOXP1_ENST00000468577.1_Missense_Mutation_p.T367S|FOXP1_ENST00000484350.1_Missense_Mutation_p.T291S|FOXP1_ENST00000493089.1_Missense_Mutation_p.T367S	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	367	Leucine-zipper.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATGCAGGTGGGTCATCATGGC	0.438000			T	PAX5	ALL								4	172					0	0	0.00116845	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3639001	3639001	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:3639001G>A	ENST00000335312.3	-	16	1889	c.1801C>T	c.(1801-1803)Ccg>Tcg	p.P601S	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.P601S|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.P601S|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.P601S	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	601					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCACCGGCCGGGGAAGCCTCC	0.692000													5	35					0	0	0.00198382	0	0
TPK1	27010	broad.mit.edu	37	7	144245645	144245645	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:144245645G>A	ENST00000549981.1	-	10	924	c.201C>T	c.(199-201)ggC>ggT	p.G67G	TPK1_ENST00000378099.3_Silent_p.G135G|TPK1_ENST00000538212.2_Silent_p.G130G|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000360057.3_Silent_p.G184G			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	184					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CAGGAATAAGGCCACACCAAT	0.428000													22	61					0	0	0.000720815	0	0
CUX2	23316	broad.mit.edu	37	12	111748436	111748436	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:111748436C>T	ENST00000261726.6	+	15	2004	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	617						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGTTCCTGTCGGATGAGCAG	0.647000													6	24					0	0	0.000157383	0	0
IKBKB	3551	broad.mit.edu	37	8	42174317	42174317	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:42174317C>T	ENST00000520810.1	+	11	1206	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.I338I|IKBKB_ENST00000416505.2_Silent_p.I281I|IKBKB_ENST00000379708.3_Silent_p.I117I	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	340					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGGCCAGAATCCAACAGGACA	0.562000													6	20					0	0	0.000274275	0	0
CCAR2	57805	broad.mit.edu	37	8	22464830	22464830	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:22464830C>T	ENST00000308511.4	+	6	728	c.479C>T	c.(478-480)cCt>cTt	p.P160L	KIAA1967_ENST00000520861.1_5'UTR|KIAA1967_ENST00000389279.3_Missense_Mutation_p.P160L			Q8N163	K1967_HUMAN		160					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCACTCTTTCCTCAGAAGCGT	0.542000													9	31					0	0	0.000978159	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444230	15444230	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:15444230G>A	ENST00000295297.4	+	3	957	c.698G>A	c.(697-699)gGa>gAa	p.G233E	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.G226E|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.G226E	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	226	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GCCAACACAGGAAACCATGAT	0.458000													17	47					0	0	0.00074312	0	0
CD1A	909	broad.mit.edu	37	1	158226832	158226832	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:158226832C>T	ENST00000289429.5	+	4	1394	c.861C>T	c.(859-861)ggC>ggT	p.G287G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	287	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTCTAGAGGGCCAGGACATCG	0.587000													6	33					0	0	0.00116845	0	0
LRP2	4036	broad.mit.edu	37	2	170097627	170097627	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:170097627G>C	ENST00000263816.3	-	25	4201	c.3916C>G	c.(3916-3918)Cct>Gct	p.P1306A	LRP2_ENST00000443831.1_Missense_Mutation_p.P1169A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1306	LDL-receptor class A 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			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)	GGCTGAGTAGGGCAGTCCTTC	0.502000													17	37					0	0	0.00074312	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024755	203024755	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:203024755C>T	ENST00000367240.2	+	15	2489	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S	PPFIA4_ENST00000272198.6_Silent_p.S169S|PPFIA4_ENST00000447715.2_Silent_p.S653S|PPFIA4_ENST00000414050.2_Silent_p.S382S|PPFIA4_ENST00000599966.1_Silent_p.S169S|PPFIA4_ENST00000295706.4_Silent_p.S169S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	169					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCTCACCTCCCGCAGTGCTG	0.682000													5	36					0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179614337	179614337	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:179614337C>T	ENST00000360870.5	-	46	13012	c.12790G>A	c.(12790-12792)Gaa>Aaa	p.E4264K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	415							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)			CCATAAATTTCACCAATATTT	0.393000													8	35					0	0	0.000157383	0	0
DPP3	10072	broad.mit.edu	37	11	66258775	66258775	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:66258775G>C	ENST00000532677.1	+	7	1177	c.776G>C	c.(775-777)cGg>cCg	p.R259P	DPP3_ENST00000360510.2_Missense_Mutation_p.R240P|DPP3_ENST00000453114.1_Missense_Mutation_p.R240P|DPP3_ENST00000541961.1_Missense_Mutation_p.R240P|DPP3_ENST00000531863.1_Missense_Mutation_p.R260P|DPP3_ENST00000530165.1_Missense_Mutation_p.R210P	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	240					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TATGAATTCCGGGGAAGCCCT	0.577000											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	54					0	0	0.000308642	0	0
OR4S2	219431	broad.mit.edu	37	11	55418737	55418737	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:55418737C>T	ENST00000312422.2	+	1	358	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGCCTATGATCGTTATGTGGC	0.428000													29	33					0	0	0.00127121	0	0
MYOCD	93649	broad.mit.edu	37	17	12656204	12656204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:12656204G>A	ENST00000425538.1	+	10	1799	c.1599G>A	c.(1597-1599)tgG>tgA	p.W533*	MYOCD_ENST00000395988.1_Nonsense_Mutation_p.W437*|MYOCD_ENST00000343344.4_Nonsense_Mutation_p.W533*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	533					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	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			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)		AACTCACCTGGAAACTCCAGC	0.537000													5	18					0	0	0.00116845	0	0
FOLH1	2346	broad.mit.edu	37	11	49179553	49179553	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:49179553C>T	ENST00000340334.7	-	15	1806	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	FOLH1_ENST00000256999.2_Missense_Mutation_p.E495K|FOLH1_ENST00000343844.4_Missense_Mutation_p.E187K|FOLH1_ENST00000356696.3_Missense_Mutation_p.E495K|FOLH1_ENST00000533034.1_Missense_Mutation_p.E480K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	495	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCCAACTTTCATAAAGAGAT	0.348000													12	50					0	0	0.00074312	0	0
SPTSSB	165679	broad.mit.edu	37	3	161063940	161063940	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:161063940G>A	ENST00000359175.4	-	3	1742	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	SPTSSB_ENST00000497137.1_Missense_Mutation_p.R58C	NM_001040100.1	NP_001035189.1	Q8NFR3	SSPTB_HUMAN	serine palmitoyltransferase, small subunit B	58					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										CAAGCCAGGCGAATGTGGATT	0.368000													6	30					0	0	0.00198382	0	0
KRT75	9119	broad.mit.edu	37	12	52827609	52827609	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:52827609G>A	ENST00000252245.5	-	1	700	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	160	Coil 1A.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGAAGGAGGCGAACTTATTGT	0.562000													12	46					0	0	0.00244969	0	0
FASLG	356	broad.mit.edu	37	1	172634797	172634797	+	Missense_Mutation	SNP	G	G	A	rs80358236		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:172634797G>A	ENST00000367721.2	+	4	671	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	163					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCTGGAATGGGAAGACACCTA	0.408000													13	27					0	0	0.00185496	0	0
OR4C12	283093	broad.mit.edu	37	11	50003708	50003708	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:50003708G>A	ENST00000335238.4	-	1	363	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGCAGGATGATCTCAGTAG	0.458000													31	82					0	0	0.00209593	0	0
ANGPT1	284	broad.mit.edu	37	8	108296931	108296931	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:108296931C>T	ENST00000520734.1	-	6	869	c.584G>A	c.(583-585)gGa>gAa	p.G195E	ANGPT1_ENST00000520052.1_Missense_Mutation_p.G194E|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	395					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTTTCATTTCCTATGTGGAA	0.378000													6	38					0	0	0.000157383	0	0
CD207	50489	broad.mit.edu	37	2	71058321	71058321	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:71058321G>A	ENST00000410009.3	-	6	892	c.847C>T	c.(847-849)Cca>Tca	p.P283S		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	283	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GGCTCACCTGGAATCCAGAAC	0.433000													14	34					0	0	0.00244969	0	0
NLRC5	84166	broad.mit.edu	37	16	57060564	57060564	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:57060564C>T	ENST00000436936.1	+	6	1934	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	NLRC5_ENST00000308149.7_Missense_Mutation_p.S570F|NLRC5_ENST00000539144.1_Missense_Mutation_p.S570F|NLRC5_ENST00000262510.6_Missense_Mutation_p.S570F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	570					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 interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|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|protein binding|RNA polymerase II core promoter sequence-specific DNA 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)				GGCCTGGCATCCTGCACCTGC	0.617000													9	30					0	0	0.000274275	0	0
C3	718	broad.mit.edu	37	19	6685030	6685030	+	Nonsense_Mutation	SNP	C	C	T	rs112522704		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:6685030C>T	ENST00000245907.6	-	30	4030	c.3938G>A	c.(3937-3939)tGg>tAg	p.W1313*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1313					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGCAGATTCCCAGTGGATACG	0.582000													4	20					0	0	0.00024832	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626960	108626960	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:108626960C>T	ENST00000264047.2	+	9	1662	c.1386C>T	c.(1384-1386)taC>taT	p.Y462Y	SLC5A7_ENST00000540517.1_Silent_p.Y357Y|SLC5A7_ENST00000409059.1_Silent_p.Y462Y	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	462					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGATCTTCTACCCTGGCTATT	0.423000													9	41					0	0	0.000673444	0	0
DSC1	1823	broad.mit.edu	37	18	28720210	28720210	+	Missense_Mutation	SNP	C	C	T	rs141453659		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:28720210C>T	ENST00000257197.3	-	10	1576	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E439K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	439	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AATTGTGCCTCGTTAATGACA	0.368000													13	37					0	0	0.00244969	0	0
OR6A2	8590	broad.mit.edu	37	11	6816325	6816325	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:6816325G>A	ENST00000332601.3	-	1	803	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGCCAGGATGAAATCTGTAA	0.493000													18	55					0	0	0.00121646	0	0
NXF5	55998	broad.mit.edu	37	X	101091776	101091776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:101091776C>T	ENST00000361708.2	-	16	1469	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	NXF5_ENST00000537026.1_Intron|NXF5_ENST00000473265.2_Intron			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	370					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GACCATCCTTCCACTTCAGAG	0.502000													6	18					0	0	0.00116845	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828684	13828684	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:13828684C>T	ENST00000279593.3	-	4	1329	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	374					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTACCCTTTCCCACTTCCTC	0.418000													21	63					0	0	0.00188189	0	0
PTH2R	5746	broad.mit.edu	37	2	209309571	209309571	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:209309571C>T	ENST00000272847.2	+	7	1025	c.812C>T	c.(811-813)tCg>tTg	p.S271L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	271						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GCTTTCTTTTCGGACACCAAA	0.398000													21	86					0	0	0.00229938	0	0
NOS1	4842	broad.mit.edu	37	12	117660592	117660592	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:117660592G>A	ENST00000317775.6	-	26	4588	c.3903C>T	c.(3901-3903)acC>acT	p.T1301T	NOS1_ENST00000338101.4_Silent_p.T1335T|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1301					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGCCTGCAGGGTCTCTTCCC	0.577000													22	43					0	0	0.00278032	0	0
DIAPH2	1730	broad.mit.edu	37	X	96136645	96136645	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:96136645C>T	ENST00000324765.8	+	5	862	c.515C>T	c.(514-516)tCg>tTg	p.S172L	DIAPH2_ENST00000355827.4_Missense_Mutation_p.S172L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.S172L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.S168L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S172L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	172	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAATTACGATCGGGTATATCA	0.383000													11	7					0	0	0.000978159	0	0
SCN2A	6326	broad.mit.edu	37	2	166179919	166179919	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:166179919G>A	ENST00000375437.2	+	12	2215	c.1925G>A	c.(1924-1926)gGg>gAg	p.G642E	SCN2A_ENST00000375427.2_Missense_Mutation_p.G642E|SCN2A_ENST00000357398.3_Missense_Mutation_p.G642E|SCN2A_ENST00000283256.6_Missense_Mutation_p.G642E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	642					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCCATGAATGGGAAGATGCAT	0.622000													5	17					0	0	0.00116845	0	0
UNC13C	440279	broad.mit.edu	37	15	54799360	54799360	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:54799360G>A	ENST00000545554.1	+	22	5347	c.5347G>A	c.(5347-5349)Gat>Aat	p.D1783N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D1783N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1781N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1783					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTATCAAGTGATTTCAGTTC	0.318000													5	18					0	0	0.00116845	0	0
CADM2	253559	broad.mit.edu	37	3	86028334	86028334	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:86028334C>T	ENST00000407528.2	+	8	1026	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	CADM2_ENST00000405615.2_Missense_Mutation_p.P324S|CADM2_ENST00000383699.3_Intron	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	322	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CACTTTGCTTCCCACTACTAT	0.403000													23	88					0	0	0.000878237	0	0
ACAN	176	broad.mit.edu	37	15	89400917	89400917	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:89400917G>A	ENST00000439576.2	+	12	5475	c.5101G>A	c.(5101-5103)Gac>Aac	p.D1701N	ACAN_ENST00000559004.1_Missense_Mutation_p.D1701N|ACAN_ENST00000561243.1_Missense_Mutation_p.D1701N|ACAN_ENST00000352105.7_Missense_Mutation_p.D1701N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1701					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGAGCTGGACATTAGTGG	0.542000													23	82					0	0	0.00229938	0	0
PMVK	10654	broad.mit.edu	37	1	154901531	154901531	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:154901531T>G	ENST00000368467.3	-	3	586	c.281A>C	c.(280-282)aAg>aCg	p.K94T		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	94					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCACAATCTTCCTGCAAAA	0.562000													20	57					0	0	0.00152264	0	0
LAMC2	3918	broad.mit.edu	37	1	183196718	183196718	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:183196718G>A	ENST00000264144.4	+	10	1419	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	LAMC2_ENST00000493293.1_Missense_Mutation_p.D452N	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	452	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTTCTACAACGATCCGCACGA	0.557000													23	74					0	0	0.000586117	0	0
ATG2A	23130	broad.mit.edu	37	11	64676602	64676602	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:64676602G>A	ENST00000421419.2	-	16	2339	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	ATG2A_ENST00000377264.3_Missense_Mutation_p.P742L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	742							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTGGACTGGGGGTTCACAGT	0.672000													11	19					0	0	0.00185496	0	0
C19orf45	374877	broad.mit.edu	37	19	7570316	7570316	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:7570316G>A	ENST00000361664.2	+	5	1030	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	297										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CTATGCCAGGGAGCCAGGTGA	0.642000													9	10					0	0	0.000274275	0	0
PCDH18	54510	broad.mit.edu	37	4	138451778	138451778	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:138451778C>T	ENST00000344876.4	-	1	1851	c.1465G>A	c.(1465-1467)Gcc>Acc	p.A489T	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A269T|PCDH18_ENST00000412923.2_Missense_Mutation_p.A489T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	489	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGATCTGTGGCTGTAACAGTG	0.403000													20	69					0	0	0.000958276	0	0
CNTN3	5067	broad.mit.edu	37	3	74350824	74350824	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:74350824G>A	ENST00000263665.6	-	14	1946	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	640	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAACCCACGGAGAAAGGTGT	0.453000													7	30					0	0	0.000157383	0	0
MXRA5	25878	broad.mit.edu	37	X	3240995	3240995	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:3240995G>A	ENST00000217939.6	-	5	2885	c.2731C>T	c.(2731-2733)Cct>Tct	p.P911S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	911						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)				ATAAGTGTAGGGGCTGCTGTC	0.483000													9	25					0	0	0.000442599	0	0
UXS1	80146	broad.mit.edu	37	2	106721260	106721260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:106721260G>A	ENST00000283148.7	-	11	1010	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	UXS1_ENST00000428048.2_Nonsense_Mutation_p.Q144*|UXS1_ENST00000409501.3_Nonsense_Mutation_p.Q300*|UXS1_ENST00000409032.1_Nonsense_Mutation_p.Q132*|UXS1_ENST00000540130.1_Nonsense_Mutation_p.Q243*	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	300					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTGACGTACTGGAACGCCCTT	0.527000											OREG0014864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	48					0	0	0.000308642	0	0
MISP	126353	broad.mit.edu	37	19	757922	757922	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:757922C>T	ENST00000215582.6	+	2	1079	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GGTGGAAATCCCCACCAGGCC	0.662000													6	8					0	0	0.00116845	0	0
CRB1	23418	broad.mit.edu	37	1	197398659	197398659	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:197398659G>A	ENST00000367397.1	+	4	1758	c.900G>A	c.(898-900)ggG>ggA	p.G300G	CRB1_ENST00000535699.1_Silent_p.G895G|CRB1_ENST00000367400.3_Silent_p.G919G|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.G400G|CRB1_ENST00000367399.2_Silent_p.G807G			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	919					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCACAAGTGGGAAAGCCTGTG	0.532000													11	65					0	0	0.000978159	0	0
C9orf131	138724	broad.mit.edu	37	9	35043926	35043926	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:35043926A>G	ENST00000312292.5	+	2	1347	c.1300A>G	c.(1300-1302)Aac>Gac	p.N434D	C9orf131_ENST00000421362.2_Missense_Mutation_p.N386D|C9orf131_ENST00000354479.5_Missense_Mutation_p.N361D	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	434										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTTGGACCTCAACCCAGAGCT	0.507000													13	35					0	0	0.000308642	0	0
PCLO	27445	broad.mit.edu	37	7	82583809	82583809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:82583809G>A	ENST00000423517.2	-	5	6797	c.6460C>T	c.(6460-6462)Caa>Taa	p.Q2154*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q2154*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2085					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						ATTATCTCTTGAATTTCTCTT	0.408000													10	46					0	0	0.000978159	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471800	47471800	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:47471800C>T	ENST00000266581.4	-	2	1452	c.986G>A	c.(985-987)aGa>aAa	p.R329K	AMIGO2_ENST00000429635.1_Missense_Mutation_p.R329K|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R329K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R329K	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	329	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CTCTAGCAGTCTGTTATCTGG	0.448000													26	87					0	0	0.000720815	0	0
KCTD3	51133	broad.mit.edu	37	1	215781439	215781439	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:215781439C>T	ENST00000259154.4	+	14	1684	c.1390C>T	c.(1390-1392)Cct>Tct	p.P464S		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	464						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGGTTCTACTCCTTTAGCGTC	0.438000													12	51					0	0	0.00136819	0	0
TAAR5	9038	broad.mit.edu	37	6	132910798	132910798	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:132910798C>T	ENST00000258034.2	-	1	79	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	10					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGGTGCTCTTCAGCACCTTGG	0.493000													6	19					0	0	0.000157383	0	0
CACNA1I	8911	broad.mit.edu	37	22	40068313	40068313	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr22:40068313G>A	ENST00000336649.4	+	30	4667	c.4667_splice	c.e30+1	p.R1556_splice	CACNA1I_ENST00000404898.1_Splice_Site_p.R1515_splice|CACNA1I_ENST00000400164.3_Splice_Site_p.R1515_splice|CACNA1I_ENST00000407673.1_Splice_Site_p.R1515_splice|CACNA1I_ENST00000402142.3_Splice_Site_p.R1550_splice|CACNA1I_ENST00000401624.1_Splice_Site_p.R1550_splice			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1550					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTCAAGGACCGGTGAGTGGCC	0.537000													25	85					0	0	0.00047179	0	0
COL12A1	1303	broad.mit.edu	37	6	75834000	75834000	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:75834000G>A	ENST00000322507.8	-	41	7004	c.6695C>T	c.(6694-6696)tCc>tTc	p.S2232F	COL12A1_ENST00000345356.6_Missense_Mutation_p.S1068F|COL12A1_ENST00000483888.2_Missense_Mutation_p.S2232F|COL12A1_ENST00000416123.2_Missense_Mutation_p.S2232F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2232	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAGCCTGTAGGAGGTGGCTGC	0.373000													4	33					0	0	0.00024832	0	0
MLF2	8079	broad.mit.edu	37	12	6859416	6859416	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:6859416G>A	ENST00000203630.5	-	6	970	c.326C>T	c.(325-327)tCc>tTc	p.S109F	MLF2_ENST00000539187.1_Missense_Mutation_p.S109F|MLF2_ENST00000435120.1_Missense_Mutation_p.S109F|MLF2_ENST00000542154.1_Missense_Mutation_p.S109F			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	109					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						ATTGGAGTAGGAGATGACAGT	0.587000													10	63					0	0	0.000673444	0	0
CDSN	1041	broad.mit.edu	37	6	31084733	31084733	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:31084733G>A	ENST00000376288.2	-	2	685	c.659C>T	c.(658-660)tCg>tTg	p.S220L	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	220	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GGGGATGTCCGAACTACAGGG	0.617000													11	29					0	0	0.000978159	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661948	8661948	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:8661948G>A	ENST00000270328.4	-	7	1229	c.963C>T	c.(961-963)atC>atT	p.I321I	ADAMTS10_ENST00000597188.1_Silent_p.I321I			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	321	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGTGGTTCACGATGGATTTCT	0.572000													18	45					0	0	0.00152264	0	0
COL12A1	1303	broad.mit.edu	37	6	75801104	75801104	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:75801104C>T	ENST00000322507.8	-	62	8996	c.8685_splice	c.e62-1	p.G2896_splice	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Splice_Site_p.G1732_splice|COL12A1_ENST00000483888.2_Splice_Site_p.G2892_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G2820_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2896	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGCAATGTCTCCCTTGTTGAA	0.299000													9	59					0	0	0.000442599	0	0
BAI3	577	broad.mit.edu	37	6	70071226	70071226	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:70071226C>T	ENST00000370598.1	+	29	4882	c.4061C>T	c.(4060-4062)cCt>cTt	p.P1354L	BAI3_ENST00000546190.1_Missense_Mutation_p.P318L|BAI3_ENST00000238918.8_Missense_Mutation_p.P560L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1354					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGAATCCCCCTGTAATGGAC	0.413000													18	80					0	0	0.00074312	0	0
SCN2A	6326	broad.mit.edu	37	2	166179918	166179918	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:166179918G>A	ENST00000375437.2	+	12	2214	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	SCN2A_ENST00000375427.2_Missense_Mutation_p.G642R|SCN2A_ENST00000357398.3_Missense_Mutation_p.G642R|SCN2A_ENST00000283256.6_Missense_Mutation_p.G642R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	642					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G642R(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCCCATGAATGGGAAGATGCA	0.622000													4	17					0	0	0.000602214	0	0
SCN9A	6335	broad.mit.edu	37	2	167055825	167055825	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:167055825C>T	ENST00000375387.4	-	27	5667	c.5327G>A	c.(5326-5328)aGt>aAt	p.S1776N	SCN9A_ENST00000409435.1_Missense_Mutation_p.S1775N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1764N|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1776N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1775						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTCATCCTCACTCAGAGGTTC	0.418000													15	63					0	0	0.00074312	0	0
PTPRT	11122	broad.mit.edu	37	20	40730818	40730818	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr20:40730818G>A	ENST00000373198.3	-	27	3961	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	PTPRT_ENST00000373190.1_Silent_p.F1219F|PTPRT_ENST00000373193.3_Silent_p.F1223F|PTPRT_ENST00000373187.1_Silent_p.F1220F|PTPRT_ENST00000373201.1_Silent_p.F1210F|PTPRT_ENST00000356100.2_Silent_p.F1229F|PTPRT_ENST00000373184.1_Silent_p.F1230F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1220	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGAGATAAGGAAGGGCAGGC	0.582000													12	26					0	0	0.00244969	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679314	37679314	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr13:37679314G>A	ENST00000379800.3	-	1	489	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	27	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.S27F(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTCTCCAAAGGAGCCAGACCC	0.542000													15	47					0	0	0.000308642	0	0
C17orf66	256957	broad.mit.edu	37	17	34192270	34192270	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:34192270C>T	ENST00000311880.2	-	3	417	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.R90Q	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	90							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTTTCCTCTCGCTGATCATA	0.507000													9	35					0	0	0.000673444	0	0
TESPA1	9840	broad.mit.edu	37	12	55367269	55367269	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:55367269C>T	ENST00000449076.1	-	3	330	c.198G>A	c.(196-198)caG>caA	p.Q66Q	TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Silent_p.Q66Q|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	66																	ACCCGCAATCCTGCAGCCAGT	0.468000													18	38					0	0	0.00152264	0	0
IGFN1	91156	broad.mit.edu	37	1	201184794	201184794	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:201184794G>A	ENST00000335211.4	+	15	9253	c.9123G>A	c.(9121-9123)aaG>aaA	p.K3041K	IGFN1_ENST00000295591.8_Silent_p.K201K|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTGGAGGAAGGACGGGGCTG	0.642000													4	18					0	0	0.00024832	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740149	176740149	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:176740149C>T	ENST00000367662.3	+	17	5712	c.4548C>T	c.(4546-4548)ctC>ctT	p.L1516L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1516	Sushi 2.				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						TCTGGTCTCTCCCTGAAGTCT	0.522000													7	43					0	0	0.000274275	0	0
OR4K13	390433	broad.mit.edu	37	14	20502702	20502702	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:20502702G>A	ENST00000315693.2	-	1	217	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGAAGCCAGGATCATATCAA	0.443000													11	39					0	0	0.000978159	0	0
RASGRP3	25780	broad.mit.edu	37	2	33749032	33749032	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:33749032C>T	ENST00000403687.3	+	8	1343	c.603C>T	c.(601-603)atC>atT	p.I201I	RASGRP3_ENST00000407811.1_Silent_p.I201I|RASGRP3_ENST00000402538.3_Silent_p.I201I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	201	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTAATGGAATCTCTAAGTGGG	0.418000													35	111					0	0	0.00058488	0	0
NEB	4703	broad.mit.edu	37	2	152404158	152404158	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:152404158G>A	ENST00000427231.2	-	132	20454	c.20252C>T	c.(20251-20253)gCt>gTt	p.A6751V	NEB_ENST00000603639.1_Missense_Mutation_p.A6751V|NEB_ENST00000409198.1_Missense_Mutation_p.A5050V|NEB_ENST00000172853.10_Missense_Mutation_p.A5050V|NEB_ENST00000604864.1_Missense_Mutation_p.A6751V|NEB_ENST00000397345.3_Missense_Mutation_p.A6751V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5050					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCACTGACAGCCTCTTGTGT	0.428000													5	15					0	0	0.00198382	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	G	A	rs143537709		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:38888526G>A	ENST00000302328.3	-	26	5233	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1641C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1679C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(1)		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)	CAGTGGAGGCGATCTTCACTC	0.463000													11	43					0	0	0.000673444	0	0
SLC22A25	387601	broad.mit.edu	37	11	62984908	62984908	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:62984908C>T	ENST00000403374.2	-	5	513	c.210G>A	c.(208-210)ttG>ttA	p.L70L	SLC22A25_ENST00000306494.6_Silent_p.L236L|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	236					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CACAAAGTGTCAATGTCAATG	0.433000													6	20					0	0	0.00116845	0	0
SLC28A1	9154	broad.mit.edu	37	15	85451966	85451966	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:85451966G>A	ENST00000394573.1	+	9	937	c.735G>A	c.(733-735)acG>acA	p.T245T	SLC28A1_ENST00000537703.1_Silent_p.T167T|SLC28A1_ENST00000286749.3_Silent_p.T245T|SLC28A1_ENST00000537624.1_Silent_p.T245T|SLC28A1_ENST00000538177.1_Silent_p.T245T|SLC28A1_ENST00000537216.1_Silent_p.T245T	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	245					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGAGCTACACGAAGGCTGGCT	0.552000													21	71					0	0	0.00047179	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918165	51918165	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:51918165G>A	ENST00000356298.5	-	8	1644	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y	SIGLEC10_ENST00000339313.5_Missense_Mutation_p.H510Y|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.H452Y	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	510					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGCCCTCCATGGAGGCTCAGG	0.687000													12	20					0	0	0.00136819	0	0
SYCP1	6847	broad.mit.edu	37	1	115527431	115527431	+	Missense_Mutation	SNP	G	G	A	rs147186440		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:115527431G>A	ENST00000369522.3	+	30	2885	c.2645G>A	c.(2644-2646)aGa>aAa	p.R882K	SYCP1_ENST00000477590.1_Intron|SYCP1_ENST00000369518.1_Missense_Mutation_p.R882K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	882					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAAAAAGAGAAAAATGGCC	0.254000													14	277					0	0	0.00074312	0	0
SHMT2	6472	broad.mit.edu	37	12	57627814	57627814	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:57627814C>T	ENST00000328923.3	+	11	1760	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	SHMT2_ENST00000449049.3_Silent_p.F415F|SHMT2_ENST00000414700.3_Silent_p.F415F|SHMT2_ENST00000393827.4_Silent_p.F340F|SHMT2_ENST00000553474.1_Silent_p.F415F|SHMT2_ENST00000557487.1_Silent_p.F426F	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	436						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTCGACAGTTCCGTGAGGATG	0.557000													21	34					0	0	0.00188189	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938278	116938278	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:116938278G>A	ENST00000229554.5	+	1	629	c.492G>A	c.(490-492)agG>agA	p.R164R	RSPH4A_ENST00000368580.4_Silent_p.R164R|RSPH4A_ENST00000368581.4_Silent_p.R164R	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	164					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGGACGAAGGGACGTGAGCT	0.468000									Kartagener syndrome				19	54					0	0	0.00188189	0	0
RNF31	55072	broad.mit.edu	37	14	24619941	24619941	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:24619941C>T	ENST00000324103.6	+	8	1652	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	RNF31_ENST00000559275.1_Silent_p.A293A|RNF31_ENST00000382687.3_Silent_p.A293A	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	444	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CACAACATGCCCCCCGGCCCT	0.592000													17	30					0	0	0.00229938	0	0
FLNC	2318	broad.mit.edu	37	7	128482328	128482328	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:128482328G>A	ENST00000325888.8	+	14	2426	c.2165G>A	c.(2164-2166)gGc>gAc	p.G722D	FLNC_ENST00000346177.6_Missense_Mutation_p.G722D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	722					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATCCCCAACGGCGACGGCACC	0.617000											OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	0.00116845	0	0
NR2E1	7101	broad.mit.edu	37	6	108497842	108497842	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:108497842C>T	ENST00000368986.4	+	4	1103	c.395C>T	c.(394-396)aCc>aTc	p.T132I	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.T169I	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	132					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GCCTTCTTCACCGCGGTCACG	0.701000													7	15					0	0	0.00198382	0	0
ZFP36L1	677	broad.mit.edu	37	14	69257039	69257039	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:69257039G>A	ENST00000439696.2	-	2	529	c.228C>T	c.(226-228)gcC>gcT	p.A76A	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.A76A	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	76					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P77fs*67(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCAGAGCGGGGGCTGGCTCAC	0.701000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	0.00116845	0	0
GABRG1	2565	broad.mit.edu	37	4	46067417	46067417	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:46067417C>T	ENST00000295452.4	-	4	673	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	169					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATTCCAAATTCGAAGCAGACG	0.323000													7	24					0	0	0.000442599	0	0
VAV3	10451	broad.mit.edu	37	1	108303444	108303444	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:108303444G>A	ENST00000370056.4	-	10	1253	c.979C>T	c.(979-981)Cct>Tct	p.P327S	VAV3_ENST00000371846.4_Missense_Mutation_p.P262S|VAV3_ENST00000527011.1_Missense_Mutation_p.P327S|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	327	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CGTTGCATAGGAACCACAAGC	0.323000													4	25					0	0	0.000602214	0	0
SLC43A1	8501	broad.mit.edu	37	11	57254631	57254631	+	Silent	SNP	G	G	A	rs142620907	byFrequency	TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:57254631G>A	ENST00000278426.3	-	14	1825	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	SLC43A1_ENST00000528450.1_Silent_p.F490F	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	490					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAGCAAGGCGAACACAGCAC	0.612000													7	16					0	0	0.000274275	0	0
PCLO	27445	broad.mit.edu	37	7	82784661	82784661	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:82784661C>T	ENST00000423517.2	-	2	1633	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	PCLO_ENST00000333891.8_Silent_p.K432K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	384	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|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						GCCCAGGTGCCTTAGCTGGAG	0.592000													21	74					0	0	0.00229938	0	0
CR2	1380	broad.mit.edu	37	1	207648331	207648331	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:207648331G>A	ENST00000367057.3	+	14	2675	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	CR2_ENST00000367059.3_Missense_Mutation_p.G770E|CR2_ENST00000367058.3_Missense_Mutation_p.G770E|CR2_ENST00000458541.2_Missense_Mutation_p.G743E	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	898	Sushi 13.				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						AAAGGACATGGATCTTGGAGC	0.438000													7	73					0	0	0.00198382	0	0
GABRE	2564	broad.mit.edu	37	X	151124307	151124307	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:151124307G>A	ENST00000370325.1	-	7	863	c.810C>T	c.(808-810)ttC>ttT	p.F270F	GABRE_ENST00000370328.3_Silent_p.F270F|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	270					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCACATTGAAGAAAATCGTCA	0.473000													14	18					0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9069926	9069926	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:9069926G>A	ENST00000397910.4	-	3	17723	c.17520C>T	c.(17518-17520)tcC>tcT	p.S5840S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5842	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						TGGTTTCTGTGGAGATGTAGG	0.473000													22	58					0	0	0.00278032	0	0
SLAMF1	6504	broad.mit.edu	37	1	160607290	160607290	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:160607290G>A	ENST00000302035.6	-	2	455	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	SLAMF1_ENST00000235739.5_Missense_Mutation_p.L36F|SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000355199.3_Missense_Mutation_p.L36F|SLAMF1_ENST00000538290.1_Missense_Mutation_p.L36F	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	36					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTGCCGGAGAATCTTTGGG	0.473000													6	14					0	0	0.00198382	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18747486	18747486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:18747486C>T	ENST00000433979.1	+	29	4063	c.3947C>T	c.(3946-3948)tCa>tTa	p.S1316L	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1316L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1357L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1316					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTTGAAGAATCATCACCTGTG	0.284000													6	47					0	0	0.00198382	0	0
SSH1	54434	broad.mit.edu	37	12	109201429	109201429	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:109201429G>A	ENST00000326495.5	-	8	804	c.711C>T	c.(709-711)tcC>tcT	p.S237S	SSH1_ENST00000551165.1_Silent_p.S237S|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.S248S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	237					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATAGCGCGGGGGAGTCGGGCC	0.622000													16	45					0	0	0.00074312	0	0
F9	2158	broad.mit.edu	37	X	138630645	138630645	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:138630645C>T	ENST00000218099.2	+	5	522	c.515C>T	c.(514-516)cCa>cTa	p.P172L	F9_ENST00000394090.2_Missense_Mutation_p.P134L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	172					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TCCTGTGAACCAGCAGGTCAT	0.368000													10	11					0	0	0.000673444	0	0
KCNH1	3756	broad.mit.edu	37	1	210857430	210857430	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:210857430C>T	ENST00000367007.4	-	11	2251	c.2082G>A	c.(2080-2082)atG>atA	p.M694I	KCNH1_ENST00000271751.4_Missense_Mutation_p.M721I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	721	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTTTCGTTTCATGCGTTCTT	0.562000													10	36					0	0	0.00185496	0	0
PRSS45	377047	broad.mit.edu	37	3	46784046	46784046	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:46784046C>T	ENST00000442359.2	-	4	480	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	193	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCTCAACTTCACAAGCCAAT	0.582000													10	42					0	0	0.000978159	0	0
RYR2	6262	broad.mit.edu	37	1	237756850	237756850	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:237756850C>T	ENST00000366574.2	+	33	4667	c.4350C>T	c.(4348-4350)ttC>ttT	p.F1450F	RYR2_ENST00000360064.6_Silent_p.F1448F|RYR2_ENST00000542537.1_Silent_p.F1434F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1450	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATCAGATTTCCATCAGTATG	0.408000													8	46					0	0	0.000274275	0	0
MOG	4340	broad.mit.edu	37	6	29627155	29627155	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:29627155G>A	ENST00000376894.4	+	2	266	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_Missense_Mutation_p.E50K|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.E50K|MOG_ENST00000483013.1_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.E50K|MOG_ENST00000396704.3_Missense_Mutation_p.E50K|MOG_ENST00000376891.4_Missense_Mutation_p.E50K|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.E50K|MOG_ENST00000376917.3_Missense_Mutation_p.E50K|MOG_ENST00000533330.2_Missense_Mutation_p.E50K|MOG_ENST00000494692.1_Missense_Mutation_p.E50K|MOG_ENST00000416766.2_Missense_Mutation_p.E50K			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	50	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGATGAAGTGGAATTGCCATG	0.542000													21	105					0	0	0.00188189	0	0
CES4A	283848	broad.mit.edu	37	16	67029701	67029701	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr16:67029701G>A	ENST00000540947.2	+	2	413	c.229G>A	c.(229-231)Gga>Aga	p.G77R	CES4A_ENST00000541479.1_Missense_Mutation_p.G100R|CES4A_ENST00000398354.1_Missense_Mutation_p.G77R|CES4A_ENST00000338718.4_Missense_Mutation_p.G100R|CES4A_ENST00000326686.5_Missense_Mutation_p.G77R	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	77						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GCCCTGGAAAGGAATCAGAGA	0.587000													7	33					0	0	0.000157383	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5209252	5209252	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr5:5209252G>A	ENST00000274181.7	+	10	1636	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E500K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	500	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCTGTGAAGGAATACAAGTA	0.468000													25	69					0	0	0.00047179	0	0
NISCH	11188	broad.mit.edu	37	3	52526445	52526445	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:52526445C>T	ENST00000345716.4	+	21	4596	c.4462C>T	c.(4462-4464)Cgc>Tgc	p.R1488C	NISCH_ENST00000479054.1_Missense_Mutation_p.R1488C	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1488					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GCTGTTGGCTCGCCAGTGGGA	0.667000													8	37					0	0	0.000274275	0	0
STXBP5L	9515	broad.mit.edu	37	3	120941953	120941953	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:120941953G>A	ENST00000273666.6	+	11	1331	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	STXBP5L_ENST00000492541.1_Missense_Mutation_p.D354N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D354N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D354N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D354N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	354					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACTTGAAATGGATCATCCTAT	0.333000													19	46					0	0	0.000958276	0	0
SYT16	83851	broad.mit.edu	37	14	62547953	62547953	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr14:62547953G>A	ENST00000430451.2	+	4	1592	c.1395G>A	c.(1393-1395)atG>atA	p.M465I		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	465										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAGGGGAAATGAAAGTGACTC	0.498000													4	24					0	0	0.000602214	0	0
PTPRK	5796	broad.mit.edu	37	6	128294823	128294823	+	Silent	SNP	C	C	T	rs138416879		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:128294823C>T	ENST00000368227.3	-	29	4536	c.4170G>A	c.(4168-4170)acG>acA	p.T1390T	PTPRK_ENST00000368207.3_Silent_p.T1405T|PTPRK_ENST00000368210.3_Silent_p.T1391T|PTPRK_ENST00000368213.5_Silent_p.T1379T|PTPRK_ENST00000368226.4_Silent_p.T1373T|PTPRK_ENST00000368215.3_Silent_p.T1372T|PTPRK_ENST00000532331.1_Silent_p.T1395T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1372	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|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)		AGTGGATAATCGTCCGGCCTT	0.483000													18	63					0	0	0.00152264	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499314	150499314	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:150499314C>T	ENST00000484928.1	+	3	767	c.186C>T	c.(184-186)atC>atT	p.I62I	TMEM176A_ENST00000004103.3_Silent_p.I62I|TMEM176A_ENST00000461345.1_Silent_p.I3I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	62						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATGCAGATCGTGCTGGGGA	0.562000													7	38					0	0	0.000442599	0	0
ERCC2	2068	broad.mit.edu	37	19	45860600	45860600	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:45860600C>T	ENST00000391945.4	-	15	1484	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	ERCC2_ENST00000391944.3_Silent_p.K391K	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	469	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGTCCAGGATCTTGGGGTAGA	0.647000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	10					0	0	0.00198382	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410911	59410911	+	Silent	SNP	A	A	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:59410911A>T	ENST00000301645.3	-	2	335	c.198T>A	c.(196-198)gtT>gtA	p.V66V		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	66					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGCAGGTAAAAACATGACCAT	0.388000									Neonatal Giant Cell Hepatitis				14	65					0	0	0.000422831	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220392	130220392	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:130220392G>A	ENST00000276211.5	+	10	1716	c.1371G>A	c.(1369-1371)agG>agA	p.R457R	ARHGAP36_ENST00000370922.1_Silent_p.R445R|ARHGAP36_ENST00000370921.1_Silent_p.R321R	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	457					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGAACTTGAGGAAGATCCAGT	0.473000													12	17					0	0	0.00185496	0	0
CCAR2	57805	broad.mit.edu	37	8	22464832	22464832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:22464832C>T	ENST00000308511.4	+	6	730	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	KIAA1967_ENST00000520861.1_5'UTR|KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.Q161*			Q8N163	K1967_HUMAN		161					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ACTCTTTCCTCAGAAGCGTGA	0.532000													10	31					0	0	0.00136819	0	0
UNC45B	146862	broad.mit.edu	37	17	33513548	33513548	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:33513548G>A	ENST00000268876.5	+	20	2863	c.2766G>A	c.(2764-2766)atG>atA	p.M922I	UNC45B_ENST00000591048.1_Missense_Mutation_p.M841I|UNC45B_ENST00000378449.1_Missense_Mutation_p.M841I|UNC45B_ENST00000433649.1_Missense_Mutation_p.M920I|UNC45B_ENST00000394570.2_Missense_Mutation_p.M920I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	922					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCAAGTGCATGGATTATGGTT	0.527000													5	40					0	0	0.000602214	0	0
RALB	5899	broad.mit.edu	37	2	121047207	121047207	+	Silent	SNP	C	C	T	rs148143386		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:121047207C>T	ENST00000272519.5	+	4	645	c.375C>T	c.(373-375)gtC>gtT	p.V125V	RALB_ENST00000470417.1_3'UTR|RALB_ENST00000404963.3_Silent_p.V146V|RALB_ENST00000474855.2_Silent_p.V147V|RALB_ENST00000420510.1_Silent_p.V125V	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	125					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	p.V125V(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CACTGCTCGTCGTGGGAAACA	0.502000													21	72					0	0	0.00229938	0	0
FCGBP	8857	broad.mit.edu	37	19	40433354	40433354	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:40433354G>A	ENST00000221347.6	-	2	922	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	305	IgGFc-binding.					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)			CAGACAGGTAGAGTGGCCAGG	0.557000													6	17					0	0	0.00116845	0	0
BAGE2	85319	broad.mit.edu	37	21	11038949	11038949	+	RNA	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr21:11038949G>A	ENST00000470054.1	-	0	1254									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTGATAATGAAAATGATGA	0.423000													11	246					0	0	0.000673444	0	0
INHBA	3624	broad.mit.edu	37	7	41729722	41729722	+	Silent	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr7:41729722C>T	ENST00000242208.4	-	3	1053	c.807G>A	c.(805-807)ggG>ggA	p.G269G	INHBA_ENST00000442711.1_Silent_p.G269G|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	269					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ccttctttttcccttccccct	0.587000										TSP Lung(11;0.080)			5	13					0	0	0.000602214	0	0
FCRL4	83417	broad.mit.edu	37	1	157556060	157556060	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:157556060C>T	ENST00000271532.1	-	6	1168	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	345	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCAGGGAGCTCCAGCTCTGCT	0.577000													10	47					0	0	0.000673444	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532073	84532073	+	RNA	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:84532073G>A	ENST00000527857.1	+	0	2095					NR_026851.1																						CTGAGGTAAGGAAGAAACTAG	0.502000													6	34					0	0	0.00116845	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243335	6243335	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr18:6243335C>T	ENST00000400104.3	-	7	618	c.418G>A	c.(418-420)Gga>Aga	p.G140R	L3MBTL4_ENST00000284898.6_Missense_Mutation_p.G140R|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.G140R|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.G140R			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	140					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCACACCATCCTACTGGATGA	0.393000													13	44					0	0	0.00244969	0	0
OR52E6	390078	broad.mit.edu	37	11	5862438	5862438	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:5862438G>A	ENST00000329322.5	-	1	689	c.690C>T	c.(688-690)ccC>ccT	p.P230P	OR52E6_ENST00000379946.2_Silent_p.P234P|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCCAGGAGGGCAGGCAGA	0.433000													5	25					0	0	0.000602214	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814304	106814304	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr8:106814304G>A	ENST00000407775.2	+	8	2244	c.1994G>A	c.(1993-1995)gGa>gAa	p.G665E	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G533E|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G533E|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G396E	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	665					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAATTAATGGAAAACCTGTT	0.433000													7	18					0	0	0.000157383	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282763	47282763	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:47282763G>A	ENST00000271153.4	+	9	1150	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	CYP4B1_ENST00000452782.2_Missense_Mutation_p.E210K|CYP4B1_ENST00000371923.4_Missense_Mutation_p.E373K|CYP4B1_ENST00000371919.4_Missense_Mutation_p.E358K			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	372					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTGCATCAAGGAGAGCTTCCG	0.552000													11	45					0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9028320	9028320	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:9028320C>T	ENST00000397910.4	-	11	36675	c.36472G>A	c.(36472-36474)Gac>Aac	p.D12158N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12160	SEA 1.				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						CGCTCTCTGTCCAGTCCGAGG	0.557000													18	46					0	0	0.00074312	0	0
CERS3	204219	broad.mit.edu	37	15	101016291	101016291	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr15:101016291C>T	ENST00000284382.4	-	9	1032	c.609_splice	c.e9+1	p.K203_splice	CERS3_ENST00000538112.2_Splice_Site_p.K203_splice|CERS3_ENST00000394113.1_Splice_Site_p.K203_splice|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	203	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGACACTTACCTTTCTCTTGA	0.353000													15	50					0	0	0.000422831	0	0
RFX6	222546	broad.mit.edu	37	6	117237415	117237415	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr6:117237415C>T	ENST00000332958.2	+	9	926	c.910C>T	c.(910-912)Ccc>Tcc	p.P304S	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	304					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCATCTCCTTCCCCTGCTCGA	0.343000													9	72					0	0	0.000442599	0	0
ZNF233	353355	broad.mit.edu	37	19	44770435	44770435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr19:44770435C>T	ENST00000592581.1	+	3	206	c.100C>T	c.(100-102)Caa>Taa	p.Q34*	ZNF233_ENST00000391958.2_Nonsense_Mutation_p.Q34*|ZNF233_ENST00000334152.1_Missense_Mutation_p.P151L|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000589522.1_Nonsense_Mutation_p.Q34*	NM_001207005.1	NP_001193934.1	A6NK53	ZN233_HUMAN	zinc finger protein 233	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AAAGCTGTACCAAGATGTGAT	0.522000													18	40					0	0	0.000958276	0	0
LRP6	4040	broad.mit.edu	37	12	12397300	12397300	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr12:12397300T>G	ENST00000261349.4	-	2	421	c.345A>C	c.(343-345)gaA>gaC	p.E115D	LRP6_ENST00000543091.1_Missense_Mutation_p.E115D	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	115	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCGATTAGTTTCAGAATCTG	0.393000													75	207					0	0	0.000781405	0	0
ULK2	9706	broad.mit.edu	37	17	19699574	19699574	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr17:19699574G>A	ENST00000395544.4	-	19	2330	c.1831C>T	c.(1831-1833)Cct>Tct	p.P611S	ULK2_ENST00000361658.2_Missense_Mutation_p.P611S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	611					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGAGTTTTAGGGATTTTGAAA	0.413000													10	26					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179648854	179648854	+	Silent	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr2:179648854G>A	ENST00000589042.1	-	16	2942	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	TTN_ENST00000591111.1_Silent_p.I906I|TTN_ENST00000342992.6_Silent_p.I906I|TTN_ENST00000460472.2_Silent_p.I860I|TTN_ENST00000360870.5_Silent_p.I906I|TTN_ENST00000359218.5_Silent_p.I860I|TTN_ENST00000342175.6_Silent_p.I860I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	906							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)			TGGTGCCAGTGATGCTCACCC	0.552000													11	51					0	0	0.00185496	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687530	130687530	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr9:130687530C>T	ENST00000388747.4	-	9	817	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R55Q	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	258	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GAACCAGCTCCGCTGGGGCCC	0.617000													7	21					0	0	0.00198382	0	0
CNTN4	152330	broad.mit.edu	37	3	2908630	2908630	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr3:2908630G>A	ENST00000358480.3	+	0	279				CNTN4_ENST00000418658.1_Missense_Mutation_p.D217N|CNTN4_ENST00000427331.1_Missense_Mutation_p.D217N|CNTN4_ENST00000397461.1_Missense_Mutation_p.D217N			Q8IWV2	CNTN4_HUMAN	contactin 4						axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGAGAAATGATGGTGAGTT	0.383000													5	20					0	0	0.00116845	0	0
TACSTD2	4070	broad.mit.edu	37	1	59041883	59041883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr1:59041883delC	ENST00000371225.2	-	1	1283	c.946delG	c.(946-948)agfs	p.E316fs		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	316					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					TTTCTCAACTCCCCCAGTTCC	0.612													2	4	---	---	---	---					
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143		TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr4:3951121_3951122insTGTC	ENST00000281228.8	-	0	344				FAM86EP_ENST00000313946.8_RNA																							cgttttcACTTTGTGCAGGAAG	0.515													4	4	---	---	---	---					
SLCO2B1	11309	broad.mit.edu	37	11	74876960	74876960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chr11:74876960delC	ENST00000289575.5	+	4	809	c.414delC	c.(412-414)atfs	p.I138fs	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Frame_Shift_Del_p.I22fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Del_p.I116fs|SLCO2B1_ENST00000341411.4_Frame_Shift_Del_p.I22fs|SLCO2B1_ENST00000532236.1_Frame_Shift_Del_p.I22fs	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	138					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CGCACTTCATCTCGGAGCCAT	0.617													31	84	---	---	---	---					
DMD	1756	broad.mit.edu	37	X	31187635	31187635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:31187635delT	ENST00000357033.4	-	74	10684	c.10478delA	c.(10477-10479)cgfs	p.Q3493fs	DMD_ENST00000378702.4_Frame_Shift_Del_p.Q425fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.Q1033fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.Q1033fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.Q425fs|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000359836.1_Frame_Shift_Del_p.Q1020fs|DMD_ENST00000541735.1_Intron|DMD_ENST00000361471.4_Frame_Shift_Del_p.Q412fs|DMD_ENST00000378680.2_Intron|DMD_ENST00000378677.2_Frame_Shift_Del_p.Q3489fs|DMD_ENST00000343523.2_Intron	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3493	Binds to SNTB1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATCAAGATCTGGGCAGGACT	0.438													2	4	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	41010280	41010283	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-ER-A2NH-06A-11D-A196-08	TCGA-ER-A2NH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbcdc00e-8a5c-435a-9d24-c03a727612ba	5d6a97e5-dc5e-41a7-927c-dd782d05fb15	g.chrX:41010280_41010283delGTTT	ENST00000324545.7	+	13	2366_2369	c.1733_1736delGTTT	c.(1732-1737)agfs	p.SL578fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.SL578fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	578					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAATTTGTAGTTTGTTTGGTGAA	0.314													8	8	---	---	---	---					
