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
MAEL	84944	broad.mit.edu	37	1	166990932	166990932	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:166990932C>T	ENST00000367872.4	+	12	1389	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.S351F	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	382					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCAAAAATTTCTGGCCAAAAC	0.373000													19	64					0	0	0.002780	0	0
ZNF57	126295	broad.mit.edu	37	19	2917733	2917733	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr19:2917733G>A	ENST00000306908.5	+	4	1262	c.1114G>A	c.(1114-1116)Gcc>Acc	p.A372T	ZNF57_ENST00000523428.1_Missense_Mutation_p.A340T|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGGGAAAGCCTTCACTTG	0.443000													3	61					0	0	0.009096	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762051	130762051	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr6:130762051G>A	ENST00000392429.1	+	2	2862	c.484G>A	c.(484-486)Gat>Aat	p.D162N	TMEM200A_ENST00000545622.1_Missense_Mutation_p.D162N|TMEM200A_ENST00000296978.3_Missense_Mutation_p.D162N	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	162						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ACACATGAGGGATATCTATTC	0.408000													28	46					0	0	0.004289	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166400	140166400	+	Silent	SNP	T	T	C			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr5:140166400T>C	ENST00000504120.2	+	1	525	c.525T>C	c.(523-525)agT>agC	p.S175S	PCDHA1_ENST00000378133.3_Silent_p.S175S|PCDHA1_ENST00000394633.3_Silent_p.S175S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCCCGAGTGATTATTTCT	0.423000													12	67					0	0	0.013537	0	0
CAPS	828	broad.mit.edu	37	19	5915048	5915048	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr19:5915048G>A	ENST00000588776.1	+	4	2984	c.617G>A	c.(616-618)gGg>gAg	p.G206E	CAPS_ENST00000452990.2_Missense_Mutation_p.G120E|CAPS_ENST00000222125.5_Missense_Mutation_p.G120E			Q13938	CAYP1_HUMAN	calcyphosine	120					intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						GACCTCCGCGGGGTGTACAGT	0.677000													56	95					0	0	0.014410	0	0
HR	55806	broad.mit.edu	37	8	21984639	21984639	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr8:21984639G>T	ENST00000381418.4	-	3	2796	c.1316C>A	c.(1315-1317)gCa>gAa	p.A439E	HR_ENST00000312841.8_Missense_Mutation_p.A439E	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	439							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCCCTGTTCTGCAGTGCCTGG	0.652000													185	84					3.57236e-102	4.21797e-102	0.014410	1	0
SLC45A4	57210	broad.mit.edu	37	8	142229073	142229073	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr8:142229073G>A	ENST00000519067.1	-	4	816	c.513C>T	c.(511-513)ttC>ttT	p.F171F	SLC45A4_ENST00000517878.1_Silent_p.F222F|SLC45A4_ENST00000024061.3_Silent_p.F171F|SLC45A4_ENST00000433583.2_Silent_p.F164F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	222					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGCTGCCCAGGAAGGTCTGGG	0.662000													30	80					0	0	0.003755	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19204081	19204081	+	Silent	SNP	G	G	A	rs150927009		TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:19204081G>A	ENST00000375341.3	-	10	1223	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ALDH4A1_ENST00000538839.1_Silent_p.F322F|ALDH4A1_ENST00000538309.1_Silent_p.F262F|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Silent_p.F322F	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	322					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.F322F(4)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGCGGTGCACGAAGTGGAAGT	0.657000													17	34					0	0	0.012319	0	0
WNT10B	7480	broad.mit.edu	37	12	49360258	49360258	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr12:49360258C>T	ENST00000301061.4	-	5	1138	c.790G>A	c.(790-792)Gcg>Acg	p.A264T	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	264					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TCTGGGGCCGCCCTCCAGCAT	0.592000													30	23					0	0	0.004878	0	0
DOCK2	1794	broad.mit.edu	37	5	169101380	169101380	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr5:169101380G>A	ENST00000256935.8	+	6	481	c.401G>A	c.(400-402)gGa>gAa	p.G134E		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	134					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCTCTCAGGAACCTTACCC	0.478000													42	61					0	0	0.014410	0	0
PTBP2	58155	broad.mit.edu	37	1	97236330	97236330	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:97236330C>T	ENST00000236228.6	+	5	437	c.355C>T	c.(355-357)Cct>Tct	p.P119S	PTBP2_ENST00000426398.2_Missense_Mutation_p.P119S|PTBP2_ENST00000370197.1_Missense_Mutation_p.P119S|PTBP2_ENST00000541987.1_Missense_Mutation_p.P88S|PTBP2_ENST00000370198.1_Missense_Mutation_p.P119S|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.P130S	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	119	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGCTGTGACACCTCATCTTCG	0.328000													31	44					0	0	0.004878	0	0
LRP2	4036	broad.mit.edu	37	2	170033017	170033017	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr2:170033017T>C	ENST00000263816.3	-	54	10760	c.10475A>G	c.(10474-10476)gAg>gGg	p.E3492G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3492	EGF-like 13.				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)	ATCTGGACACTCGCAAGTGAA	0.512000													34	36					0	0	0.004289	0	0
KMT2E	55904	broad.mit.edu	37	7	104722214	104722214	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr7:104722214C>T	ENST00000334877.4	+	13	1862	c.1328C>T	c.(1327-1329)aCt>aTt	p.T443I	KMT2E_ENST00000311117.3_Missense_Mutation_p.T443I|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.T443I|KMT2E_ENST00000476671.1_Missense_Mutation_p.T443I					lysine (K)-specific methyltransferase 2E																		ACTGAAATTACTATTGCCTTT	0.294000													4	150					0	0	0.000602	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													3	146					0	0	0.004672	0	0
ANKRD24	170961	broad.mit.edu	37	19	4222681	4222681	+	Silent	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr19:4222681C>T	ENST00000600132.1	+	20	3462	c.3186C>T	c.(3184-3186)tcC>tcT	p.S1062S	ANKRD24_ENST00000262970.5_Silent_p.S1152S|ANKRD24_ENST00000318934.4_Silent_p.S1062S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1062										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAGAACTCTCCAAAGAAGTCT	0.602000													3	16					0	0	0.009096	0	0
HR	55806	broad.mit.edu	37	8	21984959	21984959	+	Silent	SNP	G	G	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr8:21984959G>T	ENST00000381418.4	-	3	2476	c.996C>A	c.(994-996)ccC>ccA	p.P332P	HR_ENST00000312841.8_Silent_p.P332P	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	332							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CACCTTTAGTGGGTGGGTAGG	0.647000													34	17					1.57351e-24	1.81417e-24	0.003755	1	0
ANKRD36B	57730	broad.mit.edu	37	2	98165937	98165937	+	RNA	SNP	T	T	C			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr2:98165937T>C	ENST00000443455.1	-	0	1532							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		AAACAGAATCTTCCTTGACAC	0.294000													7	8					0	0	0.008291	0	0
ATF1	466	broad.mit.edu	37	12	51208211	51208211	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr12:51208211A>T	ENST00000262053.3	+	6	682	c.660A>T	c.(658-660)ttA>ttT	p.L220F	ATF1_ENST00000539132.1_Missense_Mutation_p.L85F	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	220					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor 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				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						AAATAAGGTTAATGAAAAACA	0.388000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								24	29					0	0	0.003271	0	0
DPYD	1806	broad.mit.edu	37	1	98187190	98187190	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:98187190T>C	ENST00000370192.3	-	5	459	c.359A>G	c.(358-360)aAc>aGc	p.N120S	DPYD_ENST00000423006.2_Missense_Mutation_p.N83S|DPYD_ENST00000306031.5_Missense_Mutation_p.N120S|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	120					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACCAAGTGGGTTGTCAGAAAA	0.338000													46	66					0	0	0.014410	0	0
GPR124	25960	broad.mit.edu	37	8	37693253	37693253	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr8:37693253G>A	ENST00000412232.2	+	13	2028	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	672					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCAAGAGGCGTGGCGTGGCC	0.647000													31	101					0	0	0.013726	0	0
OR13C2	392376	broad.mit.edu	37	9	107367080	107367080	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr9:107367080C>T	ENST00000542196.1	-	1	871	c.829G>A	c.(829-831)Gac>Aac	p.D277N		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATAATTTTGTCGGTAGCATCC	0.403000													34	66					0	0	0.004289	0	0
IL7R	3575	broad.mit.edu	37	5	35873668	35873668	+	Silent	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr5:35873668C>T	ENST00000303115.3	+	5	753	c.624C>T	c.(622-624)atC>atT	p.I208I	IL7R_ENST00000506850.1_Silent_p.I208I|IL7R_ENST00000343305.4_Silent_p.I208I	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	208	Fibronectin type-III.				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)			TTCGATCCATCCCTGATCACT	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						26	38					0	0	0.009535	0	0
FAT4	79633	broad.mit.edu	37	4	126328119	126328119	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr4:126328119G>A	ENST00000394329.3	+	3	5405	c.5392G>A	c.(5392-5394)Gca>Aca	p.A1798T	FAT4_ENST00000335110.5_Missense_Mutation_p.A96T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1798	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATCTGATAGCAACCAGGCG	0.458000													4	157					0	0	0.000602	0	0
PCNT	5116	broad.mit.edu	37	21	47805830	47805830	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr21:47805830G>A	ENST00000359568.5	+	17	3503	c.3396G>A	c.(3394-3396)cgG>cgA	p.R1132R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1132					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCGGGAGCGGGAGAACCGGG	0.572000													55	78					0	0	0.014410	0	0
RAB3A	5864	broad.mit.edu	37	19	18313542	18313542	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr19:18313542G>A	ENST00000222256.4	-	2	187	c.9C>T	c.(7-9)tcC>tcT	p.S3S	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	3					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						AGTCTGTGGCGGATGCCATCT	0.577000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	86					0	0	0.004672	0	0
IL22RA1	58985	broad.mit.edu	37	1	24454678	24454678	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:24454678C>A	ENST00000270800.1	-	5	661	c.623G>T	c.(622-624)tGg>tTg	p.W208L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	208	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CTCCTTGGCCCAGGTGGGAAC	0.557000													23	80					4.7796e-09	5.38392e-09	0.004656	1	0
CASR	846	broad.mit.edu	37	3	122003268	122003268	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr3:122003268C>T	ENST00000498619.1	+	7	2935	c.2497C>T	c.(2497-2499)Cca>Tca	p.P833S	CASR_ENST00000296154.5_Missense_Mutation_p.P823S|CASR_ENST00000490131.1_Missense_Mutation_p.P823S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	823					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)	CTCCTTCATTCCAGCCTATGC	0.512000													37	62					0	0	0.014410	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938181	29938181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chrX:29938181C>T	ENST00000378993.1	+	8	1700	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.R343*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	343	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAATGGACGTCGACACGCCAG	0.433000													36	1					0	0	0.008740	0	0
SNED1	25992	broad.mit.edu	37	2	242011284	242011284	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr2:242011284G>A	ENST00000310397.8	+	26	3808	c.3808G>A	c.(3808-3810)Gtg>Atg	p.V1270M	SNED1_ENST00000401884.1_Missense_Mutation_p.V1270M|SNED1_ENST00000405547.3_Missense_Mutation_p.V1270M|SNED1_ENST00000342631.6_Missense_Mutation_p.V1270M	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1270					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGCAGCCACCGTGAGATCACG	0.642000													7	8					0	0	0.004482	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													3	56					0	0	0.004672	0	0
C14orf28	122525	broad.mit.edu	37	14	45369816	45369816	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr14:45369816G>C	ENST00000325192.3	+	2	453	c.178G>C	c.(178-180)Gat>Cat	p.D60H	C14orf28_ENST00000557112.1_Missense_Mutation_p.D60H|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	60										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						CTGCACCATAGATGGATTCTT	0.378000													30	26					0	0	0.003755	0	0
FCGBP	8857	broad.mit.edu	37	19	40434213	40434213	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr19:40434213C>T	ENST00000221347.6	-	2	63	c.55_splice	c.e2-1	p.G19_splice		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	19						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)			CTGGGTCAATCCTGGTTGAGA	0.502000													21	19					0	0	0.014323	0	0
KCNK9	51305	broad.mit.edu	37	8	140630645	140630645	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr8:140630645G>A	ENST00000520439.1	-	2	1044	c.981C>T	c.(979-981)ttC>ttT	p.F327F	KCNK9_ENST00000303015.1_Silent_p.F327F			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	327						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.F327F(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGATGGAGTGGAAGTAGTGGG	0.557000													49	100					0	0	0.014410	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605718	5605718	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chrY:5605718C>T	ENST00000215473.6	+	6	3758	c.3758C>T	c.(3757-3759)tCt>tTt	p.S1253F				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1253					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACAGCTCTTCTCTGCCACAG	0.547000													107	8					0	0	0.014410	0	0
KLRC1	3821	broad.mit.edu	37	12	10603138	10603138	+	Silent	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr12:10603138C>T	ENST00000544822.1	-	4	615	c.228G>A	c.(226-228)ctG>ctA	p.L76L	KLRC1_ENST00000536188.1_Silent_p.L76L|KLRC1_ENST00000408006.3_Silent_p.L76L|KLRC1_ENST00000359151.3_Silent_p.L76L|KLRC1_ENST00000347831.5_Silent_p.L76L	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	76					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AGATAATTCCCAGGATCCCAA	0.418000													55	82					0	0	0.014410	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436655	42436655	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr15:42436655G>A	ENST00000397272.3	-	17	2065	c.1974C>T	c.(1972-1974)gcC>gcT	p.A658A	PLA2G4F_ENST00000382396.4_Silent_p.A656A	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	656	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACCTTTCCAGGCCACGAACT	0.612000													25	32					0	0	0.009535	0	0
CRY2	1408	broad.mit.edu	37	11	45891312	45891312	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr11:45891312G>A	ENST00000443527.2	+	7	1223	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	CRY2_ENST00000417225.2_Missense_Mutation_p.V319M	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	380	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCGGCATGCCGTGGCCTGCTT	0.642000													3	28					0	0	0.009096	0	0
MDGA1	266727	broad.mit.edu	37	6	37619953	37619953	+	Silent	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr6:37619953C>T	ENST00000434837.2	-	7	2324	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	MDGA1_ENST00000505425.1_Silent_p.K382K|MDGA1_ENST00000297153.7_Silent_p.K382K	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	382	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CCAGCAGCCGCTTGGACATGC	0.592000													34	56					0	0	0.006230	0	0
FAM83E	54854	broad.mit.edu	37	19	49104408	49104408	+	Silent	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr19:49104408C>T	ENST00000263266.3	-	5	1584	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	465										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCAGTCTGACGGCCTGACGC	0.667000													27	23					0	0	0.007291	0	0
XRCC1	7515	broad.mit.edu	37	19	44048353	44048353	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr19:44048353C>T	ENST00000262887.5	-	15	2202	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	XRCC1_ENST00000543982.1_Missense_Mutation_p.G521E			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	552	BRCT 2.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGGGAACTCCCCGTAAAGAAA	0.577000								Other BER factors					6	10					0	0	0.004482	0	0
BOLL	66037	broad.mit.edu	37	2	198593229	198593229	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr2:198593229G>A	ENST00000430004.1	-	12	1360	c.964C>T	c.(964-966)Cct>Tct	p.P322S	BOLL_ENST00000282278.8_3'UTR|BOLL_ENST00000321801.7_3'UTR|BOLL_ENST00000392296.4_3'UTR|AC011997.1_ENST00000409845.1_Intron			Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	0					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						GCCACGCAAGGATCATTGGAC	0.413000													28	34					0	0	0.007291	0	0
ABCD3	5825	broad.mit.edu	37	1	94933537	94933537	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:94933537G>A	ENST00000370214.4	+	4	333	c.309G>A	c.(307-309)atG>atA	p.M103I	ABCD3_ENST00000454898.2_Missense_Mutation_p.M127I|ABCD3_ENST00000315713.5_Missense_Mutation_p.M103I|ABCD3_ENST00000394233.2_Missense_Mutation_p.M103I|ABCD3_ENST00000536817.1_Missense_Mutation_p.M30I	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	103	ABC transmembrane type-1.|Interaction with PEX19.|Targeting to peroxisomes.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATGTTTGGATGATTCAAAATG	0.308000													26	39					0	0	0.009535	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981938	61981938	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr20:61981938G>C	ENST00000370263.4	-	5	1046	c.825C>G	c.(823-825)atC>atG	p.I275M	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	275					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGCACAGCGTGATCTTCTCGC	0.592000													35	41					0	0	0.005524	0	0
PRKAG1	5571	broad.mit.edu	37	12	49399093	49399093	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr12:49399093G>A	ENST00000548065.1	-	5	761	c.305C>T	c.(304-306)gCc>gTc	p.A102V	PRKAG1_ENST00000552212.1_Missense_Mutation_p.A70V|PRKAG1_ENST00000395170.3_Missense_Mutation_p.A18V|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.A111V|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.A51V|RP11-386G11.5_ENST00000552933.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	102	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						CCTTACCAAGGCTGATTTATA	0.473000													58	73					0	0	0.014410	0	0
FAM227B	196951	broad.mit.edu	37	15	49869012	49869012	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr15:49869012C>T	ENST00000299338.6	-	7	775	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	FAM227B_ENST00000561064.1_Missense_Mutation_p.E158K|FAM227B_ENST00000560246.1_3'UTR|FAM227B_ENST00000558594.1_3'UTR	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TGAGTAAGTTCATTTGCTTTG	0.303000													13	17					0	0	0.002450	0	0
OR8H2	390151	broad.mit.edu	37	11	55872882	55872882	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr11:55872882C>T	ENST00000313503.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGCCCATGATCGCTATGCAGC	0.458000										HNSCC(53;0.14)			102	65					0	0	0.014410	0	0
ADAM20	8748	broad.mit.edu	37	14	70990374	70990374	+	Silent	SNP	A	A	G			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr14:70990374A>G	ENST00000256389.3	-	2	1495	c.1251T>C	c.(1249-1251)caT>caC	p.H417H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	367	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TTCTATAGGCATGCATTATGC	0.433000													44	71					0	0	0.014410	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				74	65					0	0	0.014410	0	0
TENM2	57451	broad.mit.edu	37	5	167631399	167631399	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr5:167631399G>A	ENST00000519204.1	+	18	3352	c.3234G>A	c.(3232-3234)ggG>ggA	p.G1078G	TENM2_ENST00000520394.1_Silent_p.G967G|TENM2_ENST00000545108.1_Silent_p.G1199G|TENM2_ENST00000403607.2_Silent_p.G1023G|TENM2_ENST00000518659.1_Silent_p.G1199G					teneurin transmembrane protein 2																		AAGGCACTGGGGAAAACCAGT	0.587000													11	18					0	0	0.001855	0	0
CDK6	1021	broad.mit.edu	37	7	92300791	92300791	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr7:92300791G>A	ENST00000265734.4	-	5	1007	c.596C>T	c.(595-597)cCc>cTc	p.P199L	CDK6_ENST00000424848.2_Missense_Mutation_p.P199L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	199	Protein kinase.		P -> L (in a metastatic melanoma sample; somatic mutation).		cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.P199L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAGATCCACGGGGGTGGCGTA	0.488000			T	MLLT10	ALL								29	108					0	0	0.004289	0	0
PDC	5132	broad.mit.edu	37	1	186413385	186413385	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:186413385G>A	ENST00000391997.2	-	4	554	c.467C>T	c.(466-468)aCa>aTa	p.T156I	PDC_ENST00000340129.5_Missense_Mutation_p.T156I|PDC_ENST00000456239.2_Missense_Mutation_p.T104I|PDC_ENST00000497198.1_Missense_Mutation_p.T104I	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	156					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TGCAAGGCATGTTAAACTACT	0.373000													29	70					0	0	0.004289	0	0
NUP107	57122	broad.mit.edu	37	12	69120309	69120309	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr12:69120309C>T	ENST00000229179.4	+	19	1939	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	NUP107_ENST00000378905.2_Missense_Mutation_p.S385F|NUP107_ENST00000539906.1_Missense_Mutation_p.S507F	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	536					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAATGGCTTTCCAAAAGCAGA	0.348000													23	41					0	0	0.004656	0	0
FMO1	2326	broad.mit.edu	37	1	171244557	171244557	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:171244557G>A	ENST00000354841.4	+	3	525	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	FMO1_ENST00000367750.3_Missense_Mutation_p.E132K|FMO1_ENST00000402921.2_Missense_Mutation_p.E69K|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	132					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACTATGCATGAAGAGAAGCA	0.433000													54	118					0	0	0.014410	0	0
ALG9	79796	broad.mit.edu	37	11	111708291	111708291	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr11:111708291T>G	ENST00000398006.2	-	12	1746	c.838A>C	c.(838-840)Aca>Cca	p.T280P	ALG9_ENST00000531154.1_Missense_Mutation_p.T287P|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	451					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GTTGGGTCTGTAGCAATTCGG	0.473000													21	12					0	0	0.005443	0	0
IKBKE	9641	broad.mit.edu	37	1	206658624	206658624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:206658624C>T	ENST00000367120.3	+	15	1970	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Nonsense_Mutation_p.Q448*	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	533					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GAGCCGGGATCAGGTACATGA	0.567000													15	49					0	0	0.006122	0	0
TUBB2A	7280	broad.mit.edu	37	6	3155151	3155151	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr6:3155151C>T	ENST00000333628.3	-	4	346	c.284G>A	c.(283-285)aGt>aAt	p.S95N	TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	95					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCCGGCTCCACTCTGGCCTGC	0.512000													3	15					0	0	0.001855	0	0
PREP	5550	broad.mit.edu	37	6	105729674	105729674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr6:105729674C>T	ENST00000369110.3	-	14	1977	c.1785G>A	c.(1783-1785)tgG>tgA	p.W595*		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	595					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AATCAGTGGTCCAAGCATGGC	0.398000													44	44					0	0	0.014410	0	0
CECR1	51816	broad.mit.edu	37	22	17690464	17690464	+	Missense_Mutation	SNP	G	G	A	rs151283756		TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr22:17690464G>A	ENST00000399839.1	-	2	374	c.104C>T	c.(103-105)gCg>gTg	p.A35V	CECR1_ENST00000449907.2_5'UTR|CECR1_ENST00000262607.3_Missense_Mutation_p.A35V|CECR1_ENST00000399837.2_Missense_Mutation_p.A35V			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	35	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	p.A35V(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAACAGATGCGCCCGTGTTTC	0.552000													59	31					0	0	0.014410	0	0
TBC1D5	9779	broad.mit.edu	37	3	17300025	17300025	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr3:17300025C>A	ENST00000253692.7	-	16	2968	c.1304G>T	c.(1303-1305)cGa>cTa	p.R435L	TBC1D5_ENST00000446818.2_Missense_Mutation_p.R435L|TBC1D5_ENST00000429383.4_Missense_Mutation_p.R435L|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.R387L	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	435						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GTCTGCTCCTCGTGCTTTGTA	0.313000													4	155					0.00198382	0.00220925	0.001984	1	0
ALS2	57679	broad.mit.edu	37	2	202575791	202575791	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr2:202575791T>A	ENST00000264276.6	-	26	4417	c.4045A>T	c.(4045-4047)Agt>Tgt	p.S1349C	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1349					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AATTCCAAACTCTCTAGTGTC	0.348000													27	38					0	0	0.009535	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581393	232581393	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:232581393T>C	ENST00000366630.1	-	10	3593	c.3235A>G	c.(3235-3237)Aga>Gga	p.R1079G	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1079G|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R153G			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1079					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGGGAAGCTCTAGAGAGGGGC	0.657000													23	70					0	0	0.002780	0	0
OR51B4	79339	broad.mit.edu	37	11	5322673	5322673	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr11:5322673G>A	ENST00000380224.1	-	1	553	c.504C>T	c.(502-504)tcC>tcT	p.S168S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S168S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGGCACGGGAACCACAAT	0.418000													22	55					0	0	0.003954	0	0
FAT4	79633	broad.mit.edu	37	4	126238008	126238008	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr4:126238008A>T	ENST00000394329.3	+	1	455	c.442A>T	c.(442-444)Agt>Tgt	p.S148C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	148	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAGGAAGACAGTAGCAGCGG	0.607000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	16					0	0	0.007413	0	0
C10orf129	142827	broad.mit.edu	37	10	96967012	96967012	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr10:96967012C>T	ENST00000341686.3	+	4	576	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	C10orf129_ENST00000430183.1_5'UTR|C10orf129_ENST00000394005.3_Missense_Mutation_p.R151C	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	151					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CAAGAAAATTCGCTATCAATT	0.458000													35	5					0	0	0.006999	0	0
EVC2	132884	broad.mit.edu	37	4	5624453	5624453	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr4:5624453A>C	ENST00000310917.2	-	14	2803	c.2072T>G	c.(2071-2073)cTc>cGc	p.L691R	EVC2_ENST00000344938.1_Missense_Mutation_p.L771R|EVC2_ENST00000344408.5_Missense_Mutation_p.L771R	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	771						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTGCAGGAAGAGCCAGGGCAC	0.652000													3	52					0	0	0.004672	0	0
RFX6	222546	broad.mit.edu	37	6	117243237	117243237	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr6:117243237G>A	ENST00000332958.2	+	13	1376	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	454					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						AGAACTGAAGGATCTCCTTAA	0.353000													22	38					0	0	0.006320	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592950	101592950	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr5:101592950G>A	ENST00000310954.6	-	8	1624	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	446					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATGTCATTCTGAATTTTGAAA	0.368000													27	17					0	0	0.007291	0	0
STAT3	6774	broad.mit.edu	37	17	40481782	40481782	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr17:40481782G>A	ENST00000264657.5	-	12	1434	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	STAT3_ENST00000588969.1_Silent_p.D374D|STAT3_ENST00000389272.3_Silent_p.D276D|STAT3_ENST00000585517.1_Silent_p.D374D|STAT3_ENST00000404395.3_Silent_p.D374D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	374					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GAGCTGCAACGTCCCCAGAGT	0.428000									Hyperimmunoglobulin E Recurrent Infection Syndrome				21	21					0	0	0.003954	0	0
TFEC	22797	broad.mit.edu	37	7	115580613	115580613	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr7:115580613C>T	ENST00000265440.7	-	8	1216	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	TFEC_ENST00000457268.1_Missense_Mutation_p.E279K|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.E317K	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	346	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTTATAATTCATCACCATCA	0.398000													19	69					0	0	0.010504	0	0
NCAM1	4684	broad.mit.edu	37	11	113075075	113075075	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr11:113075075C>G	ENST00000316851.7	+	2	165	c.165C>G	c.(163-165)aaC>aaG	p.N55K	NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.N64K	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	65	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCACCCCAAACCAGCAGCGGA	0.478000													17	13					0	0	0.006122	0	0
IQCF1	132141	broad.mit.edu	37	3	51937001	51937001	+	Splice_Site	SNP	C	C	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr3:51937001C>A	ENST00000310914.5	-	2	170	c.108_splice	c.e2+1	p.E36_splice		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	36										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTCCTCCTACCTCTGCCTTTG	0.493000													42	174					1.56793e-16	1.78671e-16	0.014410	1	0
CDC27	996	broad.mit.edu	37	17	45234749	45234749	+	Splice_Site	SNP	A	A	C	rs148497428		TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr17:45234749A>C	ENST00000066544.3	-	6	570	c.475_splice	c.e6-1	p.G159_splice	CDC27_ENST00000531206.1_Splice_Site_p.G159_splice|CDC27_ENST00000527547.1_Splice_Site_p.G159_splice|CDC27_ENST00000446365.2_Splice_Site_p.G98_splice|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	159					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.G159G(3)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTGGCTTTTCACCTGTGAAGA	0.358000													6	45					0	0	0.003080	0	0
MYT1	4661	broad.mit.edu	37	20	62839564	62839564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr20:62839564G>T	ENST00000536311.1	+	7	1379	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Nonsense_Mutation_p.E339*			Q01538	MYT1_HUMAN	myelin transcription factor 1	339					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCCCAAGCCTGAGTACTCTGT	0.577000													68	97					4.81439e-37	5.61679e-37	0.014410	1	0
CCND2	894	broad.mit.edu	37	12	4385346	4385346	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr12:4385346G>A	ENST00000261254.3	+	2	640	c.371G>A	c.(370-372)tGc>tAc	p.C124Y	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	124	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GAGAAGCTGTGCATTTACACC	0.582000			T	IGL@	"""NHL,CLL"""								9	25					0	0	0.013537	0	0
FCHO1	23149	broad.mit.edu	37	19	17885062	17885062	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr19:17885062G>A	ENST00000594202.1	+	12	1084	c.805G>A	c.(805-807)Gag>Aag	p.E269K	FCHO1_ENST00000596536.1_Missense_Mutation_p.E269K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E269K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E269K|FCHO1_ENST00000252771.7_Missense_Mutation_p.E269K|FCHO1_ENST00000596951.1_Missense_Mutation_p.E269K|FCHO1_ENST00000539407.1_Missense_Mutation_p.E269K|FCHO1_ENST00000595033.1_Missense_Mutation_p.E219K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E276K	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	269										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTGGACTTCGAGGCATACAG	0.607000													15	35					0	0	0.006122	0	0
TMED8	283578	broad.mit.edu	37	14	77809738	77809738	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr14:77809738G>A	ENST00000216468.7	-	5	598	c.543C>T	c.(541-543)agC>agT	p.S181S		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	181	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCACCAGACGGCTGTTCTTCT	0.542000													21	14					0	0	0.002780	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667504	133667504	+	Silent	SNP	G	G	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr3:133667504G>A	ENST00000310926.4	-	8	1254	c.981C>T	c.(979-981)ctC>ctT	p.L327L	SLCO2A1_ENST00000493729.1_Silent_p.L251L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	327					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						CCAGGACGAAGAGTGAGTTCA	0.577000													61	70					0	0	0.014410	0	0
PTBP2	58155	broad.mit.edu	37	1	97236329	97236329	+	Silent	SNP	A	A	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:97236329A>T	ENST00000236228.6	+	5	436	c.354A>T	c.(352-354)acA>acT	p.T118T	PTBP2_ENST00000426398.2_Silent_p.T118T|PTBP2_ENST00000370197.1_Silent_p.T118T|PTBP2_ENST00000541987.1_Silent_p.T87T|PTBP2_ENST00000370198.1_Silent_p.T118T|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Silent_p.T129T	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	118	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTGCTGTGACACCTCATCTTC	0.328000													31	43					0	0	0.004878	0	0
DNAH17	8632	broad.mit.edu	37	17	76511015	76511015	+	Silent	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr17:76511015C>T	ENST00000389840.5	-	26	4066	c.3942G>A	c.(3940-3942)aaG>aaA	p.K1314K	DNAH17_ENST00000585328.1_Silent_p.K1315K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCTCATGTCCTTGGCAAACT	0.493000													64	63					0	0	0.014410	0	0
HR	55806	broad.mit.edu	37	8	21985008	21985008	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr8:21985008G>C	ENST00000381418.4	-	3	2427	c.947C>G	c.(946-948)tCt>tGt	p.S316C	HR_ENST00000312841.8_Missense_Mutation_p.S316C	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	316							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CGGCTCAGGAGAGGGGCACCT	0.647000													23	6					0	0	0.003330	0	0
CCDC170	80129	broad.mit.edu	37	6	151914298	151914298	+	Silent	SNP	C	C	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr6:151914298C>T	ENST00000367290.5	+	8	1439	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	CCDC170_ENST00000239374.7_Silent_p.A450A			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	450																	AGATGGCTGCCGAACTTGGCT	0.448000													33	48					0	0	0.006230	0	0
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttc>t	p.FI89del	VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	89					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													9	500	---	---	---	---					
AFF4	27125	broad.mit.edu	37	5	132224853	132224853	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr5:132224853delT	ENST00000265343.5	-	14	3029	c.2650delA	c.(2650-2652)gtfs	p.S887fs		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	887	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)			GAGGAGCTACTTGGAGCCTTT	0.373													30	86	---	---	---	---					
NUP188	23511	broad.mit.edu	37	9	131730827	131730828	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr9:131730827_131730828insA	ENST00000372577.2	+	9	649_650	c.628_629insA	c.(628-630)acafs	p.T210fs		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	210					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGCCTTCGGGAACAGTCCATG	0.391													35	63	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65273598	65273599	+	RNA	INS	-	-	T			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr11:65273598_65273599insT	ENST00000534336.1	+	0	8366_8367					NR_002819.2																						GATGCTGGTGGTTGGCACTCCT	0.406													11	15	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275762	71275764	+	In_Frame_Del	DEL	CCG	CCG	-	rs66483442		TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr14:71275762_71275764delCCG	ENST00000554752.2	-	1	124_126	c.125_127delCGG	c.(124-129)gtg>g	p.AV42del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.AV42del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.AV42del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	42	Ala-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCGGGGCCCACCGCCGCCGCCGc	0.788													3	6	---	---	---	---					
RP11-519G16.3	0	broad.mit.edu	37	15	45755523	45755525	+	RNA	DEL	CAC	CAC	-			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr15:45755523_45755525delCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA																							ccatcaccatcaccaccaccacc	0.581													2	4	---	---	---	---					
CD276	80381	broad.mit.edu	37	15	73994688	73994696	+	In_Frame_Del	DEL	TTCAGCCTG	TTCAGCCTG	-			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr15:73994688_73994696delTTCAGCCTG	ENST00000318443.5	+	3	474_482	c.172_180delTTCAGCCTG	c.(172-180)del	p.FSL58del	CD276_ENST00000564751.1_In_Frame_Del_p.FSL58del|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000561213.1_In_Frame_Del_p.FSL58del|CD276_ENST00000318424.5_In_Frame_Del_p.FSL58del	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	58	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGAGCCTGGCTTCAGCCTGGCACAGCTCA	0.641													19	27	---	---	---	---					
GSPT1	2935	broad.mit.edu	37	16	12009530	12009531	+	In_Frame_Ins	INS	-	-	CCG	rs71408216		TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr16:12009530_12009531insCCG	ENST00000434724.2	-	1	246_247	c.47_48insCGG	c.(46-48)gag>gCGGag	p.15_16insA	AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000420576.2_Intron|GSPT1_ENST00000439887.2_In_Frame_Ins_p.15_16insA	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	42					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772													2	4	---	---	---	---					
AFG3L1P	172	broad.mit.edu	37	16	90053802	90053802	+	RNA	DEL	A	A	-			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr16:90053802delA	ENST00000437774.1	+	0	731					NR_003226.1																						gaggaggtggaggaggtggag	0.647													2	4	---	---	---	---					
MGC20647	91370	broad.mit.edu	37	22	30642384	30642386	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-D3-A3MO-06A-11D-A21A-08	TCGA-D3-A3MO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	affa4ef4-02ec-40f1-b6a2-739f8bf2afa9	46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2	g.chr22:30642384_30642386delGAG	ENST00000593843.1	+	2	200_202	c.200_202delGAG	c.(199-204)cga>c	p.RG67del	LIF_ENST00000403987.3_Intron|LIF_ENST00000249075.3_Intron																							TGTCCggagcgaggaggaggagg	0.606													4	8	---	---	---	---