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
ZEB1	6935	broad.mit.edu	37	10	31799728	31799728	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:31799728C>T	ENST00000446923.2	+	5	952	c.561C>T	c.(559-561)tcC>tcT	p.S187S	ZEB1_ENST00000320985.10_Silent_p.S203S|ZEB1_ENST00000542815.3_Silent_p.S136S|ZEB1_ENST00000560721.2_Silent_p.S183S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.S204S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	203					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTAGTTGCTCCCTGTGCAGTT	0.388000													14	56					0	0	0.033300	0	0
TRIM25	7706	broad.mit.edu	37	17	54978923	54978923	+	Missense_Mutation	SNP	C	C	A	rs144571863	byFrequency	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:54978923C>A	ENST00000316881.4	-	4	993	c.944G>T	c.(943-945)cGa>cTa	p.R315L	TRIM25_ENST00000537230.1_Missense_Mutation_p.R315L	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	315	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TGAGATTCCTCGCAGTTTTGA	0.542000													175	260					6.83255e-78	1.14923e-77	0.139131	1	0
HK1	3098	broad.mit.edu	37	10	71139737	71139737	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:71139737A>G	ENST00000448642.2	+	14	1645	c.1256A>G	c.(1255-1257)aAc>aGc	p.N419S	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.N383S|HK1_ENST00000360289.2_Missense_Mutation_p.N372S|HK1_ENST00000404387.2_Missense_Mutation_p.N388S|HK1_ENST00000359426.6_Missense_Mutation_p.N384S			P19367	HXK1_HUMAN	hexokinase 1	384	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CGCTCAGCCAACTTGGTGGCT	0.572000													29	100					0	0	0.144211	0	0
FAT3	120114	broad.mit.edu	37	11	92498133	92498133	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:92498133T>C	ENST00000298047.6	+	5	4090	c.4073T>C	c.(4072-4074)aTa>aCa	p.I1358T	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.I1358T|FAT3_ENST00000525166.1_Missense_Mutation_p.I1208T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1358	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTTCACCTATACCATTGACC	0.493000										TCGA Ovarian(4;0.039)			10	30					0	0	0.069234	0	0
OR8J3	81168	broad.mit.edu	37	11	55904515	55904515	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:55904515C>A	ENST00000301529.1	-	1	679	c.680G>T	c.(679-681)aGg>aTg	p.R227M		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGAACGTATCCTTAGAATGGA	0.353000													20	76					0.00741294	0.00779468	0.043863	1	0
COL19A1	1310	broad.mit.edu	37	6	70909316	70909316	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:70909316G>A	ENST00000322773.4	+	49	3201	c.3099G>A	c.(3097-3099)agG>agA	p.R1033R	COL19A1_ENST00000393344.1_Silent_p.R655R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1033					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATGAAGAGAGGATGGCTGTAT	0.398000													12	46					0	0	0.119110	0	0
TTN	7273	broad.mit.edu	37	2	179575494	179575494	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:179575494G>T	ENST00000589042.1	-	98	28554	c.28330C>A	c.(28330-28332)Cag>Aag	p.Q9444K	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q9127K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q8200K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9127	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACTAATCTGGTACTTTCCG	0.483000													15	65					6.72482e-11	8.97324e-11	0.132662	1	0
NIN	51199	broad.mit.edu	37	14	51224033	51224033	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:51224033C>G	ENST00000245441.5	-	18	3905	c.3715G>C	c.(3715-3717)Gag>Cag	p.E1239Q	NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.E1239Q|NIN_ENST00000530997.2_Missense_Mutation_p.E1239Q|NIN_ENST00000382041.3_Missense_Mutation_p.E1239Q|NIN_ENST00000324330.9_Missense_Mutation_p.E1239Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1239					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GGGATTCTCTCAAGCATCTTC	0.423000			T	PDGFRB	MPD								42	187					0	0	0.111260	0	0
GPR135	64582	broad.mit.edu	37	14	59930496	59930496	+	Silent	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:59930496T>C	ENST00000395116.1	-	1	1564	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	483						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		ATTTAGGCTGTTTGGTCACTG	0.532000													9	52					0	0	0.069234	0	0
KIF16B	55614	broad.mit.edu	37	20	16385474	16385474	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:16385474T>A	ENST00000354981.2	-	17	1925	c.1768A>T	c.(1768-1770)Atg>Ttg	p.M590L	KIF16B_ENST00000408042.1_Missense_Mutation_p.M590L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.M590L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	590					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTATACAACATGACTGCAGAC	0.493000													3	28					0	0	0.115264	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329782	64329782	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:64329782G>T	ENST00000301891.4	+	4	1070	c.696G>T	c.(694-696)acG>acT	p.T232T	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Silent_p.T232T|SLC22A11_ENST00000377585.3_Silent_p.T232T	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	232					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TCACCATGACGGTGGTGGGAT	0.672000													50	50					1.46156e-29	2.36325e-29	0.139131	1	0
SCN11A	11280	broad.mit.edu	37	3	38936334	38936334	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:38936334G>A	ENST00000450244.1	-	15	2723	c.2525C>T	c.(2524-2526)gCt>gTt	p.A842V	SCN11A_ENST00000444237.2_Missense_Mutation_p.A842V|SCN11A_ENST00000302328.3_Missense_Mutation_p.A842V|SCN11A_ENST00000456224.3_Missense_Mutation_p.A842V			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	842					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAACAAAAAGCCCGGCGGAA	0.458000													18	51					0	0	0.049695	0	0
GPR98	84059	broad.mit.edu	37	5	89999481	89999481	+	Splice_Site	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:89999481G>A	ENST00000405460.2	+	35	8251		c.e35-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTACTTGCAGGAGAAATTTT	0.328000													6	10					0	0	0.021553	0	0
HMCN1	83872	broad.mit.edu	37	1	186024552	186024552	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:186024552G>T	ENST00000271588.4	+	45	7119	c.6890G>T	c.(6889-6891)aGc>aTc	p.S2297I	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2297I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2297	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACAGTGGCAGCCACCCTACT	0.443000													16	62					3.41278e-10	4.44573e-10	0.033300	1	0
SLC35F1	222553	broad.mit.edu	37	6	118556708	118556708	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:118556708G>T	ENST00000360388.4	+	3	587	c.386G>T	c.(385-387)tGg>tTg	p.W129L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	129					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CGACGAAGATGGTGGAAGTAC	0.398000													11	61					3.07112e-06	3.57145e-06	0.080935	1	0
HLA-V	352962	broad.mit.edu	37	6	29761674	29761674	+	RNA	SNP	T	T	C	rs9500987	by1000genomes	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:29761674T>C	ENST00000457107.1	+	0	900																											ctgagagggtttcatattcaa	0.498000													2	16					0	0	0.115264	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036173	48036173	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:48036173C>T	ENST00000543600.1	-	1	207	c.168G>A	c.(166-168)ctG>ctA	p.L56L	PTCHD4_ENST00000339488.4_Silent_p.L73L			Q6ZW05	CF138_HUMAN	patched domain containing 4	73						integral to membrane	hedgehog receptor activity										TGGGAGCGACCAGGCGCTCCA	0.642000													6	39					0	0	0.029380	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461545	5461545	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:5461545G>A	ENST00000296564.7	+	13	2320	c.2098G>A	c.(2098-2100)Gag>Aag	p.E700K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	700										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACAACTTGGAGAATAGCTT	0.393000													17	51					0	0	0.055883	0	0
N6AMT1	29104	broad.mit.edu	37	21	30254550	30254550	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr21:30254550C>G	ENST00000303775.5	-	3	269	c.244G>C	c.(244-246)Gca>Cca	p.A82P	N6AMT1_ENST00000351429.3_Missense_Mutation_p.A82P	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	82					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						CAAGCTGCTGCCTCAGGGTTG	0.373000													7	45					0	0	0.029380	0	0
MYBL2	4605	broad.mit.edu	37	20	42310438	42310438	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:42310438G>T	ENST00000217026.4	+	3	256	c.129G>T	c.(127-129)agG>agT	p.R43S	MYBL2_ENST00000396863.4_Intron	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	43	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGCAGCTGAGGGCCCTGGTGA	0.597000													22	39					1.64293e-13	2.32286e-13	0.083992	1	0
DPYD	1806	broad.mit.edu	37	1	98060631	98060631	+	Silent	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:98060631G>C	ENST00000370192.3	-	9	1042	c.942C>G	c.(940-942)gcC>gcG	p.A314A		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	314					'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)	TACTGCCTTTGGCTACAAGTG	0.368000													17	86					0	0	0.038395	0	0
KCNIP3	30818	broad.mit.edu	37	2	96047375	96047375	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:96047375G>C	ENST00000295225.5	+	6	614	c.479G>C	c.(478-480)cGg>cCg	p.R160P	KCNIP3_ENST00000360990.3_Missense_Mutation_p.R138P|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Missense_Mutation_p.R134P	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	160	EF-hand 2.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		ATCCTGCTGCGGGGCACAGTC	0.542000													12	59					0	0	0.119110	0	0
WAPAL	23063	broad.mit.edu	37	10	88260055	88260055	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:88260055C>A	ENST00000298767.5	-	3	1417	c.945G>T	c.(943-945)atG>atT	p.M315I		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	315	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGGTGCCGTCCATCAGCTTAT	0.448000													60	98					7.41606e-26	1.18387e-25	0.139131	1	0
FOXC2	2303	broad.mit.edu	37	16	86601304	86601304	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:86601304C>A	ENST00000320354.4	+	1	448	c.363C>A	c.(361-363)cgC>cgA	p.R121R	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	121					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACAGCATCCGCCACAACCTCT	0.592000									Late-onset Hereditary Lymphedema				30	28					1.88708e-17	2.83709e-17	0.134883	1	0
ZBTB4	57659	broad.mit.edu	37	17	7366181	7366181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:7366181C>T	ENST00000311403.4	-	4	2459	c.2120G>A	c.(2119-2121)tGg>tAg	p.W707*	ZBTB4_ENST00000380599.4_Nonsense_Mutation_p.W707*	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGTTTCCTCCCAGCTCCTCCG	0.701000													11	65					0	0	0.080935	0	0
WDR78	79819	broad.mit.edu	37	1	67288175	67288175	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:67288175C>A	ENST00000371026.3	-	16	2420	c.2365G>T	c.(2365-2367)Gct>Tct	p.A789S	WDR78_ENST00000431318.1_Missense_Mutation_p.A502S	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	789										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCAGGGTTAGCAGTATTCACA	0.338000													10	54					9.70103e-10	1.25073e-09	0.069234	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686586	125686586	+	Silent	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:125686586G>C	ENST00000371126.1	-	1	248	c.6C>G	c.(4-6)gcC>gcG	p.A2A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	2										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTTGCTGCTGGGCCATGGTGg	0.746000													8	23					0	0	0.047766	0	0
POM121L12	285877	broad.mit.edu	37	7	53103526	53103526	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:53103526C>A	ENST00000408890.4	+	1	178	c.162C>A	c.(160-162)ccC>ccA	p.P54P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	54								p.P54P(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCCCTGGCCCCTGAGGTCCC	0.701000													19	25					3.62473e-10	4.70091e-10	0.062417	1	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033770	37033770	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:37033770C>T	ENST00000322716.5	-	1	1025	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	267						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GGGCTTACGGCCTTTTCTCTC	0.433000													51	78					0	0	0.139131	0	0
ADAM19	8728	broad.mit.edu	37	5	156918897	156918897	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:156918897C>T	ENST00000257527.4	-	17	2010	c.1932G>A	c.(1930-1932)agG>agA	p.R644R	ADAM19_ENST00000394020.1_Silent_p.R646R|ADAM19_ENST00000517905.1_Silent_p.R644R|ADAM19_ENST00000430702.2_Silent_p.R377R	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	644	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGAGGTGTTCCTGCACTGCC	0.527000													7	13					0	0	0.047766	0	0
CNGA1	1259	broad.mit.edu	37	4	47938842	47938842	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:47938842C>A	ENST00000402813.3	-	10	2018	c.1876G>T	c.(1876-1878)Gct>Tct	p.A626S	CNGA1_ENST00000514170.1_Missense_Mutation_p.A557S|CNGA1_ENST00000358519.4_Missense_Mutation_p.A557S|CNGA1_ENST00000544810.1_Missense_Mutation_p.A557S|CNGA1_ENST00000420489.2_Missense_Mutation_p.A557S			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	557					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CGATTGCCAGCTTTGCTCCCT	0.458000													27	101					7.07758e-08	8.57119e-08	0.099896	1	0
OTOP2	92736	broad.mit.edu	37	17	72920958	72920958	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:72920958C>A	ENST00000331427.4	+	2	323	c.231C>A	c.(229-231)atC>atA	p.I77I	OTOP2_ENST00000580223.1_Silent_p.I77I	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	77						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCTCTGGATCCTCTTCTACC	0.672000													4	14					1.23904e-05	1.3965e-05	0.014758	1	0
FAM171A1	221061	broad.mit.edu	37	10	15296858	15296858	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:15296858C>A	ENST00000378116.4	-	4	445	c.439G>T	c.(439-441)Gtt>Ttt	p.V147F		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	147						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGAAATGAACGCGAGGCTGT	0.562000													16	13					2.23348e-06	2.61816e-06	0.146539	1	0
ANO2	57101	broad.mit.edu	37	12	5685150	5685150	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:5685150A>T	ENST00000356134.5	-	25	2545	c.2474T>A	c.(2473-2475)aTc>aAc	p.I825N	ANO2_ENST00000327087.8_Missense_Mutation_p.I824N|ANO2_ENST00000546188.1_Missense_Mutation_p.I825N	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	829						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGGCGGGGGATAAAGTCGGA	0.512000													3	9					0	0	0.009096	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220645	10220645	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:10220645A>T	ENST00000428358.1	+	7	819	c.647A>T	c.(646-648)gAg>gTg	p.E216V	PPAN_ENST00000253107.7_Missense_Mutation_p.E216V|PPAN_ENST00000393793.1_Missense_Mutation_p.E163V|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E216V|PPAN_ENST00000556468.1_Missense_Mutation_p.E216V	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		216	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTGCTCCAGGAGAAGTTCCCC	0.642000													15	94					0	0	0.132662	0	0
GPR101	83550	broad.mit.edu	37	X	136113088	136113088	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:136113088C>T	ENST00000298110.1	-	1	745	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	249						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCTGCTCCCTCTTCATC	0.552000													21	61					0	0	0.055883	0	0
HCCAT5	283902	broad.mit.edu	37	16	73127415	73127415	+	RNA	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:73127415C>T	ENST00000569990.2	+	0	821					NR_027756.1																						TAGCTGCGCCCTGTCCACTCT	0.577000													3	8					0	0	0.115264	0	0
AFM	173	broad.mit.edu	37	4	74351780	74351780	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:74351780C>A	ENST00000226355.3	+	4	565	c.472C>A	c.(472-474)Ctt>Att	p.L158I		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	158	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGAGAATCCCTTTTAAATCA	0.358000													25	49					1.68575e-08	2.07587e-08	0.125774	1	0
SAR1A	56681	broad.mit.edu	37	10	71912271	71912271	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:71912271G>A	ENST00000373238.1	-	7	915	c.558C>T	c.(556-558)taC>taT	p.Y186Y	SAR1A_ENST00000431664.2_Silent_p.Y186Y|SAR1A_ENST00000458634.2_Silent_p.Y143Y|SAR1A_ENST00000373241.4_Silent_p.Y186Y|SAR1A_ENST00000373242.1_Silent_p.Y186Y			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	186					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AACCCTCGCCGTAACCTTGCC	0.483000													3	47					0	0	0.009096	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279065	36279065	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:36279065G>A	ENST00000007510.4	+	21	3742	c.3598G>A	c.(3598-3600)Ggt>Agt	p.G1200S	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G1039S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G1036S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1200					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTCAGATCCCGGTCCCCCAGT	0.687000													15	38					0	0	0.038395	0	0
COL9A1	1297	broad.mit.edu	37	6	70980049	70980049	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:70980049G>T	ENST00000357250.6	-	15	1323	c.1165C>A	c.(1165-1167)Cca>Aca	p.P389T	COL9A1_ENST00000370499.4_Missense_Mutation_p.P146T|COL9A1_ENST00000320755.7_Missense_Mutation_p.P146T|COL9A1_ENST00000489611.1_Intron	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	389	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGGCCAGGTGGTCCTCTTCTC	0.453000													9	47					1.76689e-08	2.16667e-08	0.058154	1	0
ZNF733P	643955	broad.mit.edu	37	7	62758704	62758704	+	RNA	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:62758704C>T	ENST00000331425.6	-	0	173					NR_003952.1																						TTCCGCTGAGCACAATCCAGG	0.393000													11	48					0	0	0.093190	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169242	90169242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:90169242G>A	ENST00000333209.3	-	2	2538	c.2020C>T	c.(2020-2022)Cag>Tag	p.Q674*		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	674										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTTTCAGCTGGAGCTTGGAG	0.532000													10	23					0	0	0.058154	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588904	33588904	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:33588904C>A	ENST00000504830.1	-	18	3000	c.2665G>T	c.(2665-2667)Ggg>Tgg	p.G889W	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G804W|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	889	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCCACTCCCCTGCCCACCAC	0.572000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	33					0.0581538	0.0599284	0.058154	1	0
ZEB2	9839	broad.mit.edu	37	2	145147171	145147171	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:145147171C>A	ENST00000558170.2	-	10	4676	c.3492G>T	c.(3490-3492)gaG>gaT	p.E1164D	ZEB2_ENST00000539609.3_Missense_Mutation_p.E1140D|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1164D|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1164D	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1164	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACTTTCTTCCTCTTCCTCCT	0.527000													34	106					1.22384e-17	1.8431e-17	0.054565	1	0
SRGAP3	9901	broad.mit.edu	37	3	9146467	9146467	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:9146467C>A	ENST00000383836.3	-	3	747	c.320G>T	c.(319-321)cGg>cTg	p.R107L	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.R107L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	107					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCTCTCCCGCCGGGTCTGATG	0.517000			T	RAF1	pilocytic astrocytoma								23	32					1.9806e-07	2.37889e-07	0.069288	1	0
ATRNL1	26033	broad.mit.edu	37	10	116919825	116919825	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:116919825C>T	ENST00000355044.3	+	6	980	c.854C>T	c.(853-855)cCc>cTc	p.P285L	ATRNL1_ENST00000527407.1_Missense_Mutation_p.P285L|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	285						integral to membrane	sugar binding	p.P285H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGAATGTTCCCTCTACTGAG	0.363000													75	95					0	0	0.139131	0	0
ANO7	50636	broad.mit.edu	37	2	242147078	242147078	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:242147078T>A	ENST00000274979.8	+	11	1335	c.1232T>A	c.(1231-1233)cTg>cAg	p.L411Q	ANO7_ENST00000402430.3_Missense_Mutation_p.L410Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	411						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCTGTGCCCTGGCCCAGGTA	0.617000													31	46					0	0	0.054565	0	0
SHC2	25759	broad.mit.edu	37	19	422199	422199	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:422199C>A	ENST00000264554.6	-	11	1566	c.1567G>T	c.(1567-1569)Ggc>Tgc	p.G523C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	523	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGCATGCCGGTGAGGACA	0.687000													6	13					0.00198382	0.00211126	0.029380	1	0
CHMP4B	128866	broad.mit.edu	37	20	32438873	32438873	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:32438873G>T	ENST00000217402.2	+	3	648		c.e3+1			NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B						cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						GTTTGACGAGGTGAGTAGTTT	0.458000													16	62					3.41278e-10	4.44573e-10	0.033300	1	0
TRIOBP	11078	broad.mit.edu	37	22	38119890	38119890	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:38119890C>T	ENST00000406386.3	+	7	1582	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	443					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTCCTCTCCCAGTAGAGC	0.582000													8	26					0	0	0.047766	0	0
KCNN3	3782	broad.mit.edu	37	1	154841865	154841865	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:154841865G>A	ENST00000271915.3	-	1	891	c.576C>T	c.(574-576)agC>agT	p.S192S		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	197						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TCCGGGAGGCGCTGAGGCGGC	0.662000													14	81					0	0	0.119110	0	0
DYSF	8291	broad.mit.edu	37	2	71797023	71797023	+	Missense_Mutation	SNP	G	G	A	rs151064013		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:71797023G>A	ENST00000258104.3	+	27	3161	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R	DYSF_ENST00000410020.3_Missense_Mutation_p.G980R|DYSF_ENST00000410041.1_Missense_Mutation_p.G980R|DYSF_ENST00000394120.2_Missense_Mutation_p.G963R|DYSF_ENST00000413539.2_Missense_Mutation_p.G993R|DYSF_ENST00000409744.1_Missense_Mutation_p.G949R|DYSF_ENST00000429174.2_Missense_Mutation_p.G962R|DYSF_ENST00000409762.1_Missense_Mutation_p.G979R|DYSF_ENST00000409582.3_Missense_Mutation_p.G979R|DYSF_ENST00000409651.1_Missense_Mutation_p.G994R|DYSF_ENST00000409366.1_Missense_Mutation_p.G963R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	962						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGGCTTCCCGGAGGCCAGTG	0.582000													4	30					0	0	0.009096	0	0
CDH23	64072	broad.mit.edu	37	10	73544710	73544710	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:73544710C>A	ENST00000224721.6	+	42	5585	c.5580C>A	c.(5578-5580)ccC>ccA	p.P1860P		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1855	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGAACCTGCCCATGAACATCA	0.597000													12	25					1.5842e-08	1.95905e-08	0.105934	1	0
HIST1H3C	8352	broad.mit.edu	37	6	26045678	26045678	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:26045678G>A	ENST00000540144.1	+	1	40	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	14					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GTCTACCGGCGGCAAAGCTCC	0.552000													8	54					0	0	0.058154	0	0
TTC23L	153657	broad.mit.edu	37	5	34880305	34880305	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:34880305C>T	ENST00000505624.1	+	9	1072	c.969C>T	c.(967-969)ttC>ttT	p.F323F	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	323							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGATATATTTCATAAGAAGTA	0.358000													11	91					0	0	0.119110	0	0
AKR1B15	441282	broad.mit.edu	37	7	134260294	134260294	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:134260294G>T	ENST00000457545.2	+	7	896	c.636_splice	c.e7+1	p.Q212_splice	AKR1B15_ENST00000423958.1_Splice_Site_p.Q184_splice	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	212							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TGACTAACCAGGTAAATTCTA	0.458000													21	138					1.40151e-16	2.09273e-16	0.055883	1	0
RYR1	6261	broad.mit.edu	37	19	38951174	38951174	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:38951174C>T	ENST00000355481.4	+	20	2651	c.2520C>T	c.(2518-2520)ggC>ggT	p.G840G	RYR1_ENST00000359596.3_Silent_p.G840G|RYR1_ENST00000360985.3_Silent_p.G840G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	840					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCTGGTGGGCCCCAGTCGCT	0.637000													78	63					0	0	0.139131	0	0
ZP1	22917	broad.mit.edu	37	11	60638464	60638464	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:60638464C>T	ENST00000278853.5	+	5	861	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	287	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTACTTCGTCCTCGTAGTGT	0.582000													14	159					0	0	0.080422	0	0
EYS	346007	broad.mit.edu	37	6	66112479	66112479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:66112479G>T	ENST00000503581.1	-	7	1613	c.1076C>A	c.(1075-1077)tCa>tAa	p.S359*	EYS_ENST00000393380.2_Nonsense_Mutation_p.S359*|EYS_ENST00000342421.5_Nonsense_Mutation_p.S359*|EYS_ENST00000370621.3_Nonsense_Mutation_p.S359*|EYS_ENST00000370618.3_Nonsense_Mutation_p.S359*|EYS_ENST00000370616.2_Nonsense_Mutation_p.S359*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	359	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATATTGGTGAACAGATGCA	0.313000													16	30					3.41278e-10	4.44573e-10	0.033300	1	0
KMT2E	55904	broad.mit.edu	37	7	104717791	104717791	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:104717791A>T	ENST00000334877.4	+	11	1575	c.1041A>T	c.(1039-1041)aaA>aaT	p.K347N	KMT2E_ENST00000476671.1_Missense_Mutation_p.K347N|KMT2E_ENST00000311117.3_Missense_Mutation_p.K347N|KMT2E_ENST00000257745.4_Missense_Mutation_p.K347N|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		AATCTGCAAAAGATTTGCCTC	0.294000													6	65					0	0	0.029380	0	0
GPNMB	10457	broad.mit.edu	37	7	23307523	23307523	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:23307523A>G	ENST00000258733.4	+	8	1431	c.1136A>G	c.(1135-1137)aAc>aGc	p.N379S	GPNMB_ENST00000381990.2_Missense_Mutation_p.N391S|GPNMB_ENST00000453162.2_Missense_Mutation_p.N333S|GPNMB_ENST00000539136.1_Missense_Mutation_p.N280S			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	391					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TTAGAGGTTAACATCATCCAG	0.423000													38	234					0	0	0.098360	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409481	33409481	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:33409481G>A	ENST00000418600.2	+	13	2340	c.2239G>A	c.(2239-2241)Gta>Ata	p.V747I	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.V747I|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.V688I	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	747					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCAGCCTGTGGTACTGCGGGG	0.647000													5	34					0	0	0.029380	0	0
OR4K14	122740	broad.mit.edu	37	14	20482436	20482436	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:20482436C>G	ENST00000305045.2	-	1	916	c.917G>C	c.(916-918)cGg>cCg	p.R306P		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R306Q(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAAAGTCACCCGTCGGTTTTG	0.348000													29	146					0	0	0.074837	0	0
SOX10	6663	broad.mit.edu	37	22	38373947	38373947	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:38373947C>T	ENST00000396884.2	-	3	906	c.624G>A	c.(622-624)aaG>aaA	p.K208K	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.K208K	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	208						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					AGTGGGCGCTCTTGTAGTGGG	0.697000													11	21					0	0	0.119110	0	0
PROM2	150696	broad.mit.edu	37	2	95942026	95942026	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:95942026G>A	ENST00000317620.9	+	4	682	c.549G>A	c.(547-549)atG>atA	p.M183I	PROM2_ENST00000317668.4_Missense_Mutation_p.M183I|PROM2_ENST00000403131.2_Missense_Mutation_p.M183I|PROM2_ENST00000542147.1_Missense_Mutation_p.M183I|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	183						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ATGAACAGATGGGCCCCAGCA	0.607000													31	37					0	0	0.050027	0	0
TEX14	56155	broad.mit.edu	37	17	56707800	56707800	+	Splice_Site	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:56707800C>A	ENST00000389934.3	-	3	369		c.e3+1		TEX14_ENST00000240361.8_Splice_Site|TEX14_ENST00000349033.5_Splice_Site	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14							cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATTGTACTTACTGATTTGGAT	0.403000													13	31					5.50884e-06	6.30607e-06	0.093190	1	0
MYH8	4626	broad.mit.edu	37	17	10304651	10304651	+	Nonsense_Mutation	SNP	C	C	A	rs146341182		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:10304651C>A	ENST00000403437.2	-	24	3143	c.3049G>T	c.(3049-3051)Gag>Tag	p.E1017*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1017					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTTTGTCCTCCTCTGCCTGC	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				22	124					4.26978e-12	5.83027e-12	0.083992	1	0
HEATR2	54919	broad.mit.edu	37	7	794431	794431	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:794431C>T	ENST00000297440.6	+	5	1250	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	HEATR2_ENST00000313147.5_Silent_p.T410T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	410							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGGCCTGCACCGACGAGGAGG	0.637000													4	49					0	0	0.014758	0	0
OR4N2	390429	broad.mit.edu	37	14	20296227	20296227	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:20296227C>A	ENST00000315947.1	+	1	620	c.620C>A	c.(619-621)aCa>aAa	p.T207K	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCTGATGACACTCCTGTGC	0.522000													19	252					1.56452e-12	2.16664e-12	0.043863	1	0
TRPM3	80036	broad.mit.edu	37	9	73442778	73442778	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:73442778G>T	ENST00000377110.2	-	6	1201	c.958C>A	c.(958-960)Cag>Aag	p.Q320K	TRPM3_ENST00000396280.5_Missense_Mutation_p.Q167K|TRPM3_ENST00000377101.1_Missense_Mutation_p.Q167K|TRPM3_ENST00000396283.1_Missense_Mutation_p.Q167K|TRPM3_ENST00000408909.2_Missense_Mutation_p.Q167K|TRPM3_ENST00000360823.2_Missense_Mutation_p.Q167K|TRPM3_ENST00000396285.1_Missense_Mutation_p.Q167K|TRPM3_ENST00000357533.2_Missense_Mutation_p.Q322K|TRPM3_ENST00000361823.5_Missense_Mutation_p.Q167K|TRPM3_ENST00000377106.1_Missense_Mutation_p.Q167K|TRPM3_ENST00000377105.1_Missense_Mutation_p.Q167K|TRPM3_ENST00000377111.2_Missense_Mutation_p.Q320K|TRPM3_ENST00000423814.3_Missense_Mutation_p.Q322K|TRPM3_ENST00000396292.4_Missense_Mutation_p.Q167K|TRPM3_ENST00000358082.3_Missense_Mutation_p.Q167K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	320						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTATCTTCTGGAGTGAAATA	0.443000													9	80					1.08611e-07	1.3081e-07	0.080935	1	0
ANKRD28	23243	broad.mit.edu	37	3	15711967	15711967	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:15711967G>C	ENST00000399451.2	-	28	3339	c.2972C>G	c.(2971-2973)cCt>cGt	p.P991R	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.P1024R	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	991						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GGATGATAAAGGACTACTTGA	0.463000													56	120					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179477578	179477578	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:179477578G>T	ENST00000589042.1	-	265	50094	c.49870C>A	c.(49870-49872)Cga>Aga	p.R16624R	TTN_ENST00000460472.2_Silent_p.R7559R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.R7684R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Silent_p.R14983R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.R14056R|TTN_ENST00000342175.6_Silent_p.R7751R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14983							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTAACTCGGAATGAGTAT	0.537000													7	21					0.00448238	0.00475306	0.047766	1	0
LRRC16B	90668	broad.mit.edu	37	14	24529184	24529184	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:24529184A>G	ENST00000342740.5	+	23	2028	c.1874A>G	c.(1873-1875)cAc>cGc	p.H625R	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	625										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CACAGCAACCACACGCTGCGC	0.652000													17	110					0	0	0.062417	0	0
FRS2	10818	broad.mit.edu	37	12	69968447	69968447	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:69968447G>T	ENST00000299293.2	+	10	1749	c.1239G>T	c.(1237-1239)cgG>cgT	p.R413R	FRS2_ENST00000549921.1_Silent_p.R413R|FRS2_ENST00000397997.2_Silent_p.R413R|FRS2_ENST00000550389.1_Silent_p.R413R	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	413					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAAGGCGTCGGGACTGTACAC	0.403000													20	47					1.96292e-10	2.57615e-10	0.055883	1	0
SEMA4F	10505	broad.mit.edu	37	2	74902125	74902125	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:74902125T>C	ENST00000357877.2	+	9	1261	c.1112T>C	c.(1111-1113)gTc>gCc	p.V371A	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.V216A	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	371	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GGACTGCCTGTCGTGGACAAT	0.527000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	50					0	0	0.115264	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324345	128324345	+	Silent	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:128324345T>G	ENST00000262462.4	+	3	1748	c.738T>G	c.(736-738)gcT>gcG	p.A246A	SLC27A6_ENST00000506176.1_Silent_p.A246A|SLC27A6_ENST00000395266.1_Silent_p.A246A			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	246					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GGGGTTCTGCTGTCCTGTGGG	0.408000													29	141					0	0	0.045705	0	0
SPNS3	201305	broad.mit.edu	37	17	4349376	4349376	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:4349376G>A	ENST00000355530.2	+	4	716	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	SPNS3_ENST00000333476.2_Missense_Mutation_p.V19M|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	146					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCGGGGCATCGTGGGCACTGG	0.637000													17	9					0	0	0.043863	0	0
RPE65	6121	broad.mit.edu	37	1	68906565	68906565	+	Missense_Mutation	SNP	T	T	C	rs61752887		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:68906565T>C	ENST00000262340.5	-	6	667	c.614A>G	c.(613-615)aAc>aGc	p.N205S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	205					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTTTACAATGTTGTAGGCAAT	0.388000													8	66					0	0	0.038147	0	0
OR2L13	284521	broad.mit.edu	37	1	248262995	248262995	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:248262995G>T	ENST00000366478.2	+	3	655	c.318G>T	c.(316-318)atG>atT	p.M106I	OR2L13_ENST00000358120.2_Missense_Mutation_p.M106I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.M106I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCCTGACCATGGCGTGTTCTG	0.517000													45	249					3.56509e-09	4.54303e-09	0.124865	1	0
WDR77	79084	broad.mit.edu	37	1	111984672	111984672	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:111984672C>T	ENST00000235090.5	-	9	1050	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.V218M	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	282					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGTCCAGCACAGCAAGTGAG	0.512000											OREG0013669	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	36					0	0	0.093190	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981793	61981793	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:61981793T>C	ENST00000370263.4	-	5	1191	c.970A>G	c.(970-972)Acg>Gcg	p.T324A	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)	324					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)	ACGAAGACCGTGATGACGATG	0.607000													13	79					0	0	0.105934	0	0
NRG1	3084	broad.mit.edu	37	8	32621578	32621578	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:32621578G>T	ENST00000338921.4	+	13	2122	c.1605G>T	c.(1603-1605)acG>acT	p.T535T	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.2_Silent_p.T527T|NRG1_ENST00000287845.5_Silent_p.T498T|NRG1_ENST00000287842.3_Silent_p.T524T|NRG1_ENST00000519301.1_Silent_p.T477T|NRG1_ENST00000356819.4_Silent_p.T532T|NRG1_ENST00000287840.5_Silent_p.T527T|NRG1_ENST00000539990.1_Silent_p.T370T			Q02297	NRG1_HUMAN	neuregulin 1	527				Q -> R (in Ref. 2; AAA19951).	activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTATGAAACGACCCAAGAGT	0.552000													7	28					0.0293803	0.0304197	0.029380	1	0
MYH8	4626	broad.mit.edu	37	17	10322009	10322009	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:10322009G>T	ENST00000403437.2	-	5	558	c.464C>A	c.(463-465)cCc>cAc	p.P155H	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	155	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAAGATGTGGGGCGGGGCCTC	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				51	71					6.07242e-22	9.45317e-22	0.139131	1	0
TBXAS1	6916	broad.mit.edu	37	7	139661740	139661740	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:139661740T>C	ENST00000263552.6	+	13	1383	c.845T>C	c.(844-846)aTg>aCg	p.M282T	TBXAS1_ENST00000416849.2_Missense_Mutation_p.M328T|TBXAS1_ENST00000336425.5_Missense_Mutation_p.M281T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.M281T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.M281T|TBXAS1_ENST00000436047.2_Missense_Mutation_p.M282T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.M282T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.M214T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.M327T	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	281					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TTCCTCCAAATGGTCCTGGAT	0.502000													10	48					0	0	0.069234	0	0
FBXO4	26272	broad.mit.edu	37	5	41939707	41939707	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:41939707C>T	ENST00000281623.3	+	6	1119	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	355					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTTCTAAATCACCCATGGCT	0.313000													15	141					0	0	0.132662	0	0
COL3A1	1281	broad.mit.edu	37	2	189873713	189873713	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:189873713T>A	ENST00000304636.3	+	48	3759	c.3589T>A	c.(3589-3591)Tgt>Agt	p.C1197S	COL3A1_ENST00000317840.5_Missense_Mutation_p.C894S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1197	Nonhelical region (C-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCCTTGCTGTGGTGGTGT	0.542000													38	50					0	0	0.080422	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198315	185198315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:185198315G>T	ENST00000265026.3	+	13	3131	c.2797G>T	c.(2797-2799)Gag>Tag	p.E933*	MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.E789*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.E933*|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.E726*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.E789*	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	933					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACGTGGCTATGAGGTGGGGGC	0.502000													14	31					0.00185496	0.00197892	0.105934	1	0
VPS37A	137492	broad.mit.edu	37	8	17137787	17137787	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:17137787G>C	ENST00000324849.4	+	8	1555	c.881G>C	c.(880-882)aGa>aCa	p.R294T	VPS37A_ENST00000521829.1_Missense_Mutation_p.R269T	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	294					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GAAGCCAAAAGACAAACTGTT	0.294000													12	44					0	0	0.093190	0	0
HTR3A	3359	broad.mit.edu	37	11	113849995	113849995	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:113849995G>A	ENST00000504030.2	+	3	705	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.R87Q|HTR3A_ENST00000375498.2_Missense_Mutation_p.R93Q|HTR3A_ENST00000299961.5_Missense_Mutation_p.R72Q|HTR3A_ENST00000355556.2_Missense_Mutation_p.R93Q			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	87					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ATCTGGTACCGGCAGGTGAGC	0.597000													7	16					0	0	0.038147	0	0
ZNF99	7652	broad.mit.edu	37	19	22940945	22940945	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:22940945C>G	ENST00000397104.3	-	5	1492	c.1493G>C	c.(1492-1494)gGg>gCg	p.G498A	ZNF99_ENST00000596209.1_Missense_Mutation_p.G589A					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGGTTTCTCCCCAGTATGAAT	0.358000													16	32					0	0	0.033300	0	0
ZNF134	7693	broad.mit.edu	37	19	58132744	58132744	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:58132744G>C	ENST00000396161.5	+	3	1567	c.1257G>C	c.(1255-1257)caG>caC	p.Q419H		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	419						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATCGGCACCAGAAAGTTCACA	0.458000													41	147					0	0	0.139131	0	0
ZNF598	90850	broad.mit.edu	37	16	2051678	2051678	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:2051678C>T	ENST00000563630.1	-	6	996	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ZNF598_ENST00000431526.1_Missense_Mutation_p.E307K|ZNF598_ENST00000562103.1_Missense_Mutation_p.E252K			Q86UK7	ZN598_HUMAN	zinc finger protein 598	307						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCACCTCCTCGTAGTCTTCG	0.682000													7	6					0	0	0.029380	0	0
LMOD3	56203	broad.mit.edu	37	3	69168981	69168981	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:69168981G>T	ENST00000420581.2	-	2	704	c.525C>A	c.(523-525)ggC>ggA	p.G175G	LMOD3_ENST00000475434.1_Silent_p.G175G|LMOD3_ENST00000489031.1_Silent_p.G175G	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	175	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CCTTTGCTTTGCCTTCCTCTT	0.413000													3	7					6.4e-05	7.10549e-05	0.115264	1	0
PLAT	5327	broad.mit.edu	37	8	42036487	42036487	+	Silent	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:42036487G>C	ENST00000220809.4	-	13	1714	c.1458C>G	c.(1456-1458)gtC>gtG	p.V486V	PLAT_ENST00000429710.2_Silent_p.V360V|PLAT_ENST00000429089.2_Silent_p.V486V|PLAT_ENST00000519510.1_Silent_p.V423V|PLAT_ENST00000352041.3_Silent_p.V440V|PLAT_ENST00000524009.1_Silent_p.V397V|PLAT_ENST00000270189.6_3'UTR	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	486	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGTTGTCGGTGACTGTTCTGT	0.572000													28	83					0	0	0.134883	0	0
FBN2	2201	broad.mit.edu	37	5	127623118	127623118	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:127623118G>C	ENST00000508053.1	-	60	7736	c.6762C>G	c.(6760-6762)atC>atG	p.I2254M	FBN2_ENST00000262464.4_Missense_Mutation_p.I2254M			P35556	FBN2_HUMAN	fibrillin 2	2254	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACATTCGTTGATATCTGACC	0.458000													12	47					0	0	0.093190	0	0
PRKD1	5587	broad.mit.edu	37	14	30068938	30068938	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:30068938C>A	ENST00000331968.5	-	14	2220	c.1991G>T	c.(1990-1992)gGa>gTa	p.G664V	PRKD1_ENST00000415220.2_Missense_Mutation_p.G672V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	664	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.G664A(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAGCATGTCTCCATGGAGTTT	0.378000													48	90					1.19451e-25	1.90342e-25	0.139131	1	0
MMRN1	22915	broad.mit.edu	37	4	90816385	90816385	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:90816385C>G	ENST00000394980.1	+	2	582	c.263C>G	c.(262-264)aCa>aGa	p.T88R	MMRN1_ENST00000264790.2_Missense_Mutation_p.T88R|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	88					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CCCTCAGAAACAAGTGCACCT	0.493000													6	35					0	0	0.021553	0	0
ATP10B	23120	broad.mit.edu	37	5	160114890	160114890	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:160114890C>G	ENST00000327245.5	-	5	1038	c.192G>C	c.(190-192)agG>agC	p.R64S	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	64					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R64R(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGTATCTCCTGGAGACCT	0.498000													31	125					0	0	0.045705	0	0
TRIM22	10346	broad.mit.edu	37	11	5729473	5729473	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:5729473G>A	ENST00000379965.3	+	6	1121	c.844G>A	c.(844-846)Gat>Aat	p.D282N	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	282					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CCGAGTACCAGATCTGAGTGG	0.428000													15	59					0	0	0.132662	0	0
PRSS37	136242	broad.mit.edu	37	7	141539164	141539164	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:141539164C>A	ENST00000350549.3	-	2	521	c.150G>T	c.(148-150)gtG>gtT	p.V50V	PRSS37_ENST00000438520.1_Silent_p.V50V	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	50	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CTGGGGCCAGCACCCAGCTGG	0.498000													12	36					5.50884e-06	6.30607e-06	0.093190	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862654	10862654	+	RNA	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr21:10862654G>T	ENST00000559480.1	+	0	33																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGTTTTTGGTGGTCATAGCTG	0.517000													33	353					1.36161e-19	2.09369e-19	0.069456	1	0
ADD2	119	broad.mit.edu	37	2	70890617	70890617	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:70890617C>G	ENST00000264436.3	-	16	2565	c.2121G>C	c.(2119-2121)aaG>aaC	p.K707N	ADD2_ENST00000407644.2_Missense_Mutation_p.K707N|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	707	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCGGAATTTCTTTTTCTTCT	0.522000													41	231					0	0	0.117977	0	0
OR8K5	219453	broad.mit.edu	37	11	55927137	55927137	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:55927137C>A	ENST00000313447.1	-	1	656	c.657G>T	c.(655-657)atG>atT	p.M219I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ACAAAATCAACATGTAGGACA	0.383000													21	63					1.50039e-11	2.03608e-11	0.062417	1	0
TTN	7273	broad.mit.edu	37	2	179637926	179637926	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:179637926A>T	ENST00000589042.1	-	33	7989	c.7765T>A	c.(7765-7767)Ttg>Atg	p.L2589M	TTN_ENST00000460472.2_Missense_Mutation_p.L2543M|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L2543M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.L2589M|TTN_ENST00000591111.1_Missense_Mutation_p.L2589M|TTN_ENST00000342992.6_Missense_Mutation_p.L2589M|TTN_ENST00000342175.6_Missense_Mutation_p.L2543M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2323							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACTGTCAATTTATATATT	0.348000													11	36					0	0	0.080935	0	0
NEO1	4756	broad.mit.edu	37	15	73418810	73418810	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:73418810C>A	ENST00000339362.5	+	5	1224	c.777C>A	c.(775-777)gtC>gtA	p.V259V	NEO1_ENST00000558964.1_Silent_p.V259V|NEO1_ENST00000560262.1_Silent_p.V259V|NEO1_ENST00000261908.6_Silent_p.V259V			Q92859	NEO1_HUMAN	neogenin 1	259	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.V259V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCCCTTAGTCAGAGTCATTG	0.368000													44	65					1.06522e-23	1.68516e-23	0.131918	1	0
SCYL3	57147	broad.mit.edu	37	1	169831877	169831877	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:169831877G>A	ENST00000367772.4	-	10	1214	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	SCYL3_ENST00000367771.5_Silent_p.I339I|SCYL3_ENST00000367770.1_Silent_p.I339I|SCYL3_ENST00000470238.1_5'UTR	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	339					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGCACGGGGATCACCCGTG	0.507000													7	215					0	0	0.038147	0	0
ABL2	27	broad.mit.edu	37	1	179078350	179078350	+	Silent	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:179078350T>C	ENST00000502732.1	-	12	2255	c.2052A>G	c.(2050-2052)gaA>gaG	p.E684E	ABL2_ENST00000511413.1_Silent_p.E684E|ABL2_ENST00000507173.1_Silent_p.E663E|ABL2_ENST00000344730.3_Silent_p.E669E|ABL2_ENST00000408940.3_Silent_p.E648E|ABL2_ENST00000504405.1_Silent_p.E648E|ABL2_ENST00000367623.4_Silent_p.E663E|ABL2_ENST00000512653.1_Silent_p.E669E	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	684					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TACCCGTGAGTTCGTATTTCT	0.507000			T	ETV6	AML								42	347					0	0	0.139131	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627102	43627102	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:43627102G>T	ENST00000332857.6	-	4	1613	c.1585C>A	c.(1585-1587)Caa>Aaa	p.Q529K		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GAGAGAGCTTGCACTTTATTC	0.478000													6	214					3.09899e-07	3.68687e-07	0.047766	1	0
SYNPR	132204	broad.mit.edu	37	3	63466619	63466619	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:63466619G>T	ENST00000478300.1	+	3	607	c.196G>T	c.(196-198)Gcc>Tcc	p.A66S	SYNPR_ENST00000460711.1_Missense_Mutation_p.A57S|SYNPR_ENST00000479198.1_Missense_Mutation_p.A46S|SYNPR_ENST00000465156.1_Missense_Mutation_p.A46S|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000295894.5_Missense_Mutation_p.A46S	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	46	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		CATAGCGTTTGCCTACCCATT	0.483000													26	120					2.24059e-21	3.47569e-21	0.116897	1	0
ZNF333	84449	broad.mit.edu	37	19	14815928	14815928	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:14815928G>C	ENST00000292530.6	+	6	460	c.369G>C	c.(367-369)ttG>ttC	p.L123F	ZNF333_ENST00000540689.2_Missense_Mutation_p.L123F|ZNF333_ENST00000536363.1_Missense_Mutation_p.L14F|ZNF333_ENST00000601134.1_Missense_Mutation_p.D64H	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AGACACCATTGACTCGAGAGG	0.607000													10	40					0	0	0.080935	0	0
RPL22L1	200916	broad.mit.edu	37	3	170587954	170587954	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:170587954C>A	ENST00000295830.8	-	1	318	c.3G>T	c.(1-3)atG>atT	p.M1I	RPL22L1_ENST00000463836.1_Start_Codon_SNP_p.M1I	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	1					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCACCGGCGCCATCTTGCGAG	0.547000													4	34					0.00024832	0.000271175	0.009096	1	0
NCOA1	8648	broad.mit.edu	37	2	24985555	24985555	+	Splice_Site	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:24985555G>C	ENST00000405141.1	+	23	4776		c.e23-1		NCOA1_ENST00000407230.1_Splice_Site|NCOA1_ENST00000395856.3_Splice_Site|NCOA1_ENST00000406961.1_Splice_Site|NCOA1_ENST00000348332.3_Splice_Site|NCOA1_ENST00000288599.5_Splice_Site|NCOA1_ENST00000538539.1_Splice_Site			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1										PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTTTAATAGATAAATGATC	0.388000			T	PAX3	alveolar rhadomyosarcoma								35	277					0	0	0.086207	0	0
IFT172	26160	broad.mit.edu	37	2	27707130	27707130	+	Silent	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:27707130A>T	ENST00000260570.3	-	4	403	c.300T>A	c.(298-300)ggT>ggA	p.G100G	IFT172_ENST00000416524.2_Silent_p.G79G|IFT172_ENST00000359466.6_Silent_p.G100G	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	100					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTTTCTTGTCACCCCTGCCAA	0.473000													12	82					0	0	0.119110	0	0
NCOA2	10499	broad.mit.edu	37	8	71082499	71082499	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:71082499T>C	ENST00000452400.2	-	6	660	c.479A>G	c.(478-480)tAt>tGt	p.Y160C		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	160	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAAGATGCTATATACACTTTT	0.443000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								15	14					0	0	0.146539	0	0
KMT2C	58508	broad.mit.edu	37	7	152007149	152007149	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:152007149C>A	ENST00000355193.2	-	6	969	c.751G>T	c.(751-753)Gct>Tct	p.A251S	KMT2C_ENST00000262189.6_Missense_Mutation_p.A251S					lysine (K)-specific methyltransferase 2C																		CGGTGATGAGCCCAACAAGTG	0.383000													9	38					1.76689e-08	2.16667e-08	0.058154	1	0
HPS5	11234	broad.mit.edu	37	11	18309540	18309540	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:18309540C>A	ENST00000396253.3	-	16	2581	c.2119G>T	c.(2119-2121)Gtg>Ttg	p.V707L	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.V707L|HPS5_ENST00000349215.3_Missense_Mutation_p.V821L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	821						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCATATACACAGGATTGGAA	0.363000									Hermansky-Pudlak syndrome				26	37					2.61193e-14	3.74718e-14	0.144211	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76501290	76501290	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:76501290C>G	ENST00000307431.8	+	11	1907	c.1522C>G	c.(1522-1524)Ctt>Gtt	p.L508V	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L512V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L460V|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L436V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	509	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAAAAGTCCACTTGGTGGATT	0.423000													22	17					0	0	0.055883	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369511	19369511	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:19369511C>A	ENST00000291481.7	-	4	701	c.638G>T	c.(637-639)tGg>tTg	p.W213L	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	213	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GTCGCGCAACCAGCCCGCGTT	0.741000													5	12					0.000602214	0.000647971	0.014758	1	0
ZNF733P	643955	broad.mit.edu	37	7	62753198	62753198	+	RNA	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:62753198G>C	ENST00000331425.6	-	0	237					NR_003952.1																						ATGGGAATGCGTAACTGAAAG	0.363000													55	117					0	0	0.139131	0	0
EXOC7	23265	broad.mit.edu	37	17	74093885	74093885	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:74093885C>G	ENST00000607838.1	-	5	726	c.632G>C	c.(631-633)cGc>cCc	p.R211P	EXOC7_ENST00000335146.7_Missense_Mutation_p.R211P|EXOC7_ENST00000332065.5_Missense_Mutation_p.R211P|EXOC7_ENST00000589210.1_Missense_Mutation_p.R211P|EXOC7_ENST00000411744.2_Missense_Mutation_p.R211P|EXOC7_ENST00000467929.2_Missense_Mutation_p.R170P|EXOC7_ENST00000405575.4_Missense_Mutation_p.R211P	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	211					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			ACCTTGGTTGCGGCCATATTC	0.507000													14	39					0	0	0.105934	0	0
NID1	4811	broad.mit.edu	37	1	236212255	236212255	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:236212255G>T	ENST00000264187.6	-	2	342	c.260C>A	c.(259-261)cCc>cAc	p.P87H	NID1_ENST00000366595.3_Missense_Mutation_p.P87H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	87					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTTGGCCGGGGGTTCACTCGT	0.542000													8	103					3.09899e-07	3.68687e-07	0.047766	1	0
SEC24C	9632	broad.mit.edu	37	10	75530738	75530738	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:75530738A>G	ENST00000339365.2	+	24	3332	c.3170A>G	c.(3169-3171)aAg>aGg	p.K1057R	SEC24C_ENST00000345254.4_Missense_Mutation_p.K1057R|SEC24C_ENST00000411652.2_Missense_Mutation_p.K938R|SEC24C_ENST00000540668.1_Missense_Mutation_p.K305R|SEC24C_ENST00000535742.1_Missense_Mutation_p.K305R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1057					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGGAAGACAAGATGGAGATG	0.473000													38	151					0	0	0.092188	0	0
FAM83C	128876	broad.mit.edu	37	20	33875234	33875234	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:33875234G>T	ENST00000374408.3	-	4	1444	c.1348C>A	c.(1348-1350)Cgg>Agg	p.R450R		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	450								p.R450W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGAGGGGCCGGGAGCGAGGA	0.647000													3	46					0.115264	0.11754	0.115264	1	0
TANK	10010	broad.mit.edu	37	2	162036134	162036134	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:162036134T>G	ENST00000402568.1	+	3	276	c.135T>G	c.(133-135)atT>atG	p.I45M	TANK_ENST00000406287.1_Missense_Mutation_p.I45M|TANK_ENST00000405852.1_5'UTR|TANK_ENST00000403609.1_5'UTR|TANK_ENST00000392749.2_5'UTR|TANK_ENST00000259075.2_5'UTR|TANK_ENST00000457476.1_5'UTR			Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	0						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GACCTGTCATTTACTCCATCC	0.353000													3	22					0	0	0.115264	0	0
ZNF391	346157	broad.mit.edu	37	6	27368461	27368461	+	Silent	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:27368461A>T	ENST00000244576.4	+	3	857	c.312A>T	c.(310-312)tcA>tcT	p.S104S		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GACTTTTCTCACAAAGAAAAC	0.358000													17	117					0	0	0.038395	0	0
UNC13C	440279	broad.mit.edu	37	15	54307611	54307611	+	Silent	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:54307611T>A	ENST00000545554.1	+	1	2511	c.2511T>A	c.(2509-2511)tcT>tcA	p.S837S	UNC13C_ENST00000260323.11_Silent_p.S837S|UNC13C_ENST00000537900.1_Silent_p.S837S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	837					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGACATTATCTCAATCAACTG	0.428000													9	34					0	0	0.047766	0	0
OR51B2	79345	broad.mit.edu	37	11	5345006	5345006	+	Silent	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:5345006A>T	ENST00000328813.2	-	1	576	c.522T>A	c.(520-522)cgT>cgA	p.R174R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R174R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGAAAGCACGTGTGATAA	0.388000													22	66					0	0	0.083992	0	0
MYH8	4626	broad.mit.edu	37	17	10301946	10301946	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:10301946G>T	ENST00000403437.2	-	30	4087	c.3993C>A	c.(3991-3993)gcC>gcA	p.A1331A	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1331					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTGTGCCAGGGCGTTCTTGG	0.527000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				35	35					4.3181e-19	6.59355e-19	0.054565	1	0
EHHADH	1962	broad.mit.edu	37	3	184911232	184911232	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:184911232C>A	ENST00000231887.3	-	7	1029	c.954G>T	c.(952-954)agG>agT	p.R318S	EHHADH_ENST00000456310.1_Missense_Mutation_p.R222S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	318	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GAATCCTGGCCCTTGCAAAAG	0.428000													68	82					2.40982e-25	3.833e-25	0.139131	1	0
CCT7	10574	broad.mit.edu	37	2	73476217	73476217	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:73476217C>T	ENST00000539919.1	+	9	1121	c.750C>T	c.(748-750)ccC>ccT	p.P250P	CCT7_ENST00000537131.1_Silent_p.P194P|CCT7_ENST00000538797.1_Silent_p.P166P|CCT7_ENST00000258091.5_Silent_p.P294P|CCT7_ENST00000398422.2_Silent_p.P90P|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Silent_p.P207P	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	294					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CCAAACTCCCCATTGGGGATG	0.473000													15	48					0	0	0.146539	0	0
ANXA9	8416	broad.mit.edu	37	1	150957060	150957060	+	Splice_Site	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:150957060A>G	ENST00000368947.4	+	7	857		c.e7-1			NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9						cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AATTTCTTGTAGGCCTCAGAT	0.517000													3	24					0	0	0.115264	0	0
KANK4	163782	broad.mit.edu	37	1	62740245	62740245	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:62740245C>G	ENST00000371153.4	-	3	909	c.531G>C	c.(529-531)gaG>gaC	p.E177D	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	177										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCAGGCCTGGCTCCTCAGAAG	0.637000													4	17					0	0	0.014758	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954395	79954395	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:79954395G>T	ENST00000306729.7	+	7	703	c.606G>T	c.(604-606)ttG>ttT	p.L202F	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.L125F|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.L202F	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	202							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CACTTCCCTTGGAATCTGGGG	0.667000			T	TFE3	alveolar soft part sarcoma								9	14					1.76689e-08	2.16667e-08	0.058154	1	0
APOBEC4	403314	broad.mit.edu	37	1	183616935	183616935	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:183616935G>T	ENST00000308641.4	-	2	1253	c.982C>A	c.(982-984)Cag>Aag	p.Q328K	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	328					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTGGTTTCCTGGAATGACATT	0.458000													19	218					1.67942e-08	2.07096e-08	0.038395	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445100	10445100	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:10445100C>A	ENST00000326756.3	-	3	3291	c.2853G>T	c.(2851-2853)gtG>gtT	p.V951V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTGGCGAGTCCACATCAGGGT	0.448000													18	69					7.07596e-05	7.84431e-05	0.038395	1	0
SSR3	6747	broad.mit.edu	37	3	156271452	156271452	+	Silent	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:156271452G>C	ENST00000265044.2	-	2	346	c.252C>G	c.(250-252)ctC>ctG	p.L84L	SSR3_ENST00000476217.1_Silent_p.L84L|SSR3_ENST00000463503.1_Silent_p.L32L|SSR3_ENST00000467789.1_Silent_p.L84L|SSR3_ENST00000496050.1_Silent_p.L32L	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	84					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTTGTGCTTGAGAACAAATT	0.328000													20	84					0	0	0.083992	0	0
ERCC3	2071	broad.mit.edu	37	2	128029014	128029014	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:128029014A>G	ENST00000493187.2	-	12	2114	c.1651T>C	c.(1651-1653)Ttt>Ctt	p.F551L	ERCC3_ENST00000285398.2_Missense_Mutation_p.F615L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	615	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGCAGATCAAACGAAGTGTCA	0.423000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				22	102					0	0	0.055883	0	0
RYR2	6262	broad.mit.edu	37	1	237881781	237881781	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:237881781T>A	ENST00000366574.2	+	73	10831	c.10514T>A	c.(10513-10515)gTa>gAa	p.V3505E	RYR2_ENST00000542537.1_Missense_Mutation_p.V3489E|RYR2_ENST00000360064.6_Missense_Mutation_p.V3503E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3505					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGGATGAAGTACGAGATATA	0.333000													11	44					0	0	0.105934	0	0
L1CAM	3897	broad.mit.edu	37	X	153137718	153137718	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:153137718T>C	ENST00000370060.1	-	5	478	c.289A>G	c.(289-291)Atc>Gtc	p.I97V	L1CAM_ENST00000538883.1_Missense_Mutation_p.I99V|L1CAM_ENST00000543994.1_Missense_Mutation_p.I99V|L1CAM_ENST00000361981.3_Missense_Mutation_p.I92V|L1CAM_ENST00000370055.1_Missense_Mutation_p.I92V|L1CAM_ENST00000370057.3_Missense_Mutation_p.I97V|L1CAM_ENST00000361699.4_Missense_Mutation_p.I97V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	97	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCCGTGATGGTGAAGGAG	0.592000													12	30					0	0	0.105934	0	0
RYR2	6262	broad.mit.edu	37	1	237948083	237948083	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:237948083C>A	ENST00000366574.2	+	90	13388	c.13071C>A	c.(13069-13071)gcC>gcA	p.A4357A	RYR2_ENST00000542537.1_Silent_p.A4341A|RYR2_ENST00000360064.6_Silent_p.A4363A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4357					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGAAGCCGCCCTGCCCTCCG	0.537000													5	56					0.000602214	0.000647971	0.014758	1	0
ZNF248	57209	broad.mit.edu	37	10	38121042	38121042	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:38121042C>A	ENST00000395867.3	-	6	1791	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	ZNF248_ENST00000357328.4_Missense_Mutation_p.G414V|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AAAGGCTTTCCCACATTCAGT	0.443000													32	132					1.56738e-10	2.08115e-10	0.069456	1	0
C15orf52	388115	broad.mit.edu	37	15	40630951	40630951	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:40630951C>G	ENST00000559313.1	-	4	532	c.517G>C	c.(517-519)Gag>Cag	p.E173Q		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	173										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGCTCACCTCTGCTTTGTTC	0.602000													5	18					0	0	0.038147	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73179393	73179393	+	Splice_Site	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:73179393C>A	ENST00000286657.4	-	12	1782		c.e12+1			NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3						collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATATACTCACATGGGATTAT	0.373000													8	24					0.000442599	0.000479756	0.058154	1	0
MYO6	4646	broad.mit.edu	37	6	76623840	76623840	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:76623840A>T	ENST00000369981.3	+	34	3782	c.3503A>T	c.(3502-3504)cAg>cTg	p.Q1168L	MYO6_ENST00000369985.4_Missense_Mutation_p.Q1144L|MYO6_ENST00000369975.1_Missense_Mutation_p.Q1135L|MYO6_ENST00000369977.3_Missense_Mutation_p.Q1167L			Q9UM54	MYO6_HUMAN	myosin VI	1176					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATGAACCGACAGCAACGCTTC	0.502000													46	37					0	0	0.139131	0	0
FAIM2	23017	broad.mit.edu	37	12	50291871	50291871	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:50291871T>A	ENST00000320634.3	-	3	308	c.214A>T	c.(214-216)Agc>Tgc	p.S72C	FAIM2_ENST00000550890.1_Missense_Mutation_p.S26C	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	72	Poly-Ser.				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CTGGAGCTGCTGCCTGTGTGG	0.532000													4	51					0	0	0.014758	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291382	141291382	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:141291382G>T	ENST00000247452.3	-	3	739	c.392C>A	c.(391-393)cCa>cAa	p.P131Q		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	131						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACTGTCTGGCAGGCCCTG	0.522000										HNSCC(46;0.14)			66	43					1.55545e-33	2.53373e-33	0.139131	1	0
CACNA1A	773	broad.mit.edu	37	19	13476192	13476192	+	Silent	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:13476192T>A	ENST00000360228.5	-	5	722	c.723A>T	c.(721-723)gcA>gcT	p.A241A	CACNA1A_ENST00000573710.2_Silent_p.A241A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	241					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACCCTATGATTGCAAAAATAA	0.448000													18	35					0	0	0.049695	0	0
STOML3	161003	broad.mit.edu	37	13	39546705	39546705	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:39546705C>A	ENST00000379631.4	-	4	600	c.256G>T	c.(256-258)Gat>Tat	p.D86Y	STOML3_ENST00000423210.1_Missense_Mutation_p.D77Y	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	86						integral to membrane|plasma membrane		p.D86Y(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ACAAACACATCTATGCATGGC	0.373000													54	63					1.19403e-26	1.91657e-26	0.139131	1	0
LRFN5	145581	broad.mit.edu	37	14	42360759	42360759	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:42360759C>A	ENST00000298119.4	+	4	2881	c.1692C>A	c.(1690-1692)acC>acA	p.T564T	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	564						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACAAGGTCACCAAGGTTAGCA	0.438000										HNSCC(30;0.082)			12	91					3.07112e-06	3.57145e-06	0.080935	1	0
NAMPT	10135	broad.mit.edu	37	7	105904020	105904020	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:105904020C>T	ENST00000222553.3	-	7	1094	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	NAMPT_ENST00000354289.4_Missense_Mutation_p.E263K	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	263					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACAATATGTTCAAAAGCATCT	0.373000													19	120					0	0	0.055883	0	0
KCNJ4	3761	broad.mit.edu	37	22	38824011	38824011	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:38824011T>C	ENST00000303592.3	-	2	385	c.127A>G	c.(127-129)Atg>Gtg	p.M43V		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	43					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATGTCCGCCATGTAGCGCTGC	0.612000													45	127					0	0	0.131918	0	0
EYA4	2070	broad.mit.edu	37	6	133836475	133836475	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:133836475C>A	ENST00000367895.5	+	17	1982	c.1518C>A	c.(1516-1518)gcC>gcA	p.A506A	EYA4_ENST00000430974.2_Silent_p.A458A|EYA4_ENST00000355286.6_Silent_p.A483A|EYA4_ENST00000452339.2_Silent_p.A452A|EYA4_ENST00000525849.1_Silent_p.A483A|EYA4_ENST00000531901.1_Silent_p.A512A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Silent_p.A506A|EYA4_ENST00000355167.3_Silent_p.A506A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	506					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTGGCCCTGCCAAGAGGGATG	0.433000													46	41					4.86159e-25	7.71877e-25	0.139131	1	0
SKAP1	8631	broad.mit.edu	37	17	46423342	46423342	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:46423342C>G	ENST00000336915.6	-	4	274	c.205G>C	c.(205-207)Gat>Cat	p.D69H	SKAP1_ENST00000584924.1_Missense_Mutation_p.D69H	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	69					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TGATTATCATCAGAGCTGTCC	0.438000													6	34					0	0	0.029380	0	0
BIN2	51411	broad.mit.edu	37	12	51696543	51696543	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:51696543C>T	ENST00000267012.4	-	4	300	c.239G>A	c.(238-240)aGa>aAa	p.R80K	BIN2_ENST00000452142.2_Missense_Mutation_p.R80K|BIN2_ENST00000604560.1_Missense_Mutation_p.R53K|BIN2_ENST00000544402.1_Missense_Mutation_p.R54K	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	80	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTCTGACACTCTTTTTGAACT	0.468000													23	149					0	0	0.083992	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168566	142168566	+	RNA	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:142168566A>T	ENST00000454561.2	-	0	357																											TGTTGGTACCAGGACACAGTG	0.522000													15	85					0	0	0.146539	0	0
MCM5	4174	broad.mit.edu	37	22	35799296	35799296	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:35799296G>T	ENST00000216122.4	+	3	418	c.264G>T	c.(262-264)ttG>ttT	p.L88F	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.L88F	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	88					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCGACTACTTGTACAAGCAGC	0.587000													8	26					1.12685e-05	1.27992e-05	0.047766	1	0
IQSEC1	9922	broad.mit.edu	37	3	12977285	12977285	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:12977285C>A	ENST00000273221.4	-	3	1489	c.1273G>T	c.(1273-1275)Ggc>Tgc	p.G425C		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	425					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGGGGGCGCCGCTGTGGGGA	0.697000													9	21					0.00621372	0.00654154	0.058154	1	0
MYH1	4619	broad.mit.edu	37	17	10419768	10419768	+	Silent	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:10419768G>C	ENST00000226207.5	-	3	286	c.192C>G	c.(190-192)acC>acG	p.T64T	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	64	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCCAGCTTCGGTCTTAGCTG	0.473000													60	72					0	0	0.139131	0	0
XRN1	54464	broad.mit.edu	37	3	142051224	142051224	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:142051224C>T	ENST00000264951.4	-	36	4329	c.4212G>A	c.(4210-4212)aaG>aaA	p.K1404K	XRN1_ENST00000392981.2_Silent_p.K1405K	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1404					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACCTAATTTCTTATTTTGTT	0.279000													4	64					0	0	0.009096	0	0
SORL1	6653	broad.mit.edu	37	11	121391460	121391460	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:121391460G>A	ENST00000260197.7	+	9	1435	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	436					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TATGAATGAGGAGAACATGAG	0.443000													15	27					0	0	0.033300	0	0
TSPAN13	27075	broad.mit.edu	37	7	16816732	16816732	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:16816732G>T	ENST00000262067.4	+	3	730	c.297G>T	c.(295-297)ctG>ctT	p.L99L	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	99						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GTTTAGCCCTGAACCAGGAGC	0.308000													16	134					2.39187e-15	3.52952e-15	0.049695	1	0
ZNF292	23036	broad.mit.edu	37	6	87964395	87964395	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:87964395A>G	ENST00000369577.3	+	8	1091	c.1048A>G	c.(1048-1050)Ata>Gta	p.I350V	ZNF292_ENST00000339907.4_Missense_Mutation_p.I345V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGCTACCTGTATAGAACTGTG	0.343000													50	87					0	0	0.139131	0	0
URGCP	55665	broad.mit.edu	37	7	43917767	43917767	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:43917767C>A	ENST00000336086.6	-	4	3402	c.1166G>T	c.(1165-1167)cGg>cTg	p.R389L	URGCP_ENST00000402306.3_Missense_Mutation_p.R423L|URGCP_ENST00000223341.7_Missense_Mutation_p.R389L|URGCP_ENST00000447717.3_Missense_Mutation_p.R389L|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.R389L|URGCP_ENST00000453200.1_Missense_Mutation_p.R432L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	432					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACGATGGCCCGGATCCTCTT	0.552000													31	118					5.60225e-13	7.84494e-13	0.144211	1	0
THSD7A	221981	broad.mit.edu	37	7	11485769	11485769	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:11485769C>G	ENST00000423059.3	-	13	3234	c.2983G>C	c.(2983-2985)Gga>Cga	p.G995R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	995	TSP type-1 10.					integral to membrane		p.G995*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TATCCTTGTCCGCATTCCTTG	0.433000										HNSCC(18;0.044)			70	287					0	0	0.139131	0	0
ZNF860	344787	broad.mit.edu	37	3	32032113	32032113	+	Silent	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:32032113A>G	ENST00000360311.4	+	2	2091	c.1542A>G	c.(1540-1542)gaA>gaG	p.E514E		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AGTGTAATGAATGTGGCAAGG	0.393000													3	77					0	0	0.009096	0	0
ULK4	54986	broad.mit.edu	37	3	41759238	41759238	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:41759238C>A	ENST00000301831.4	-	23	2899	c.2437G>T	c.(2437-2439)Gag>Tag	p.E813*		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	813							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGTGGCAGCTCCTGCACAATG	0.468000													32	42					8.4185e-14	1.19991e-13	0.050027	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125285018	125285018	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:125285018G>A	ENST00000431078.1	+	10	1995	c.1631G>A	c.(1630-1632)tGt>tAt	p.C544Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	544	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATTGATCTGTGTAGCATCAAA	0.408000													19	70					0	0	0.055883	0	0
HDAC9	9734	broad.mit.edu	37	7	18706012	18706012	+	Silent	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:18706012G>C	ENST00000406451.3	+	12	1785	c.1635G>C	c.(1633-1635)gtG>gtC	p.V545V	HDAC9_ENST00000405010.3_Silent_p.V545V|HDAC9_ENST00000441542.2_Silent_p.V548V|HDAC9_ENST00000432645.2_Silent_p.V545V|HDAC9_ENST00000406072.1_Silent_p.V532V|HDAC9_ENST00000428307.2_Silent_p.V501V|HDAC9_ENST00000401921.1_Silent_p.V504V|HDAC9_ENST00000456174.2_Silent_p.V517V|HDAC9_ENST00000417496.2_Silent_p.V543V|HDAC9_ENST00000524023.1_Silent_p.V468V	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	545					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGGGGCTGTGAAGGTCAAGG	0.532000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	40					0	0	0.069234	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373396	86373396	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:86373396C>A	ENST00000604798.1	-	8	2312	c.1108G>T	c.(1108-1110)Ggg>Tgg	p.G370W	MGAT4C_ENST00000548651.1_Missense_Mutation_p.G370W|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G399W|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G370W|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G370W|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G370W			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	370					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGTGGTTTCCCCCAAAAGTAC	0.353000													26	14					4.26978e-12	5.83027e-12	0.083992	1	0
STAT1	6772	broad.mit.edu	37	2	191840542	191840542	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:191840542C>T	ENST00000361099.3	-	23	2518	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	STAT1_ENST00000392323.2_Missense_Mutation_p.E713K|STAT1_ENST00000392322.3_Missense_Mutation_p.E711K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.E711K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	711					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ACTTACACTTCAGACACAGAA	0.428000													14	36					0	0	0.132662	0	0
USP31	57478	broad.mit.edu	37	16	23101960	23101960	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:23101960C>A	ENST00000219689.7	-	7	1399	c.1400G>T	c.(1399-1401)gGg>gTg	p.G467V		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	467					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCCTTGTTGCCCAGTGCAGGC	0.443000													17	24					7.45023e-12	1.01258e-11	0.055883	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140710552	140710552	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:140710552C>A	ENST00000517417.1	+	1	301	c.301C>A	c.(301-303)Ccg>Acg	p.P101T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P101T	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGCATGCCGTGTCTCGT	0.468000													40	109					2.51966e-14	3.62072e-14	0.139131	1	0
STK11IP	114790	broad.mit.edu	37	2	220465956	220465956	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:220465956G>T	ENST00000456909.1	+	3	151		c.e3-1		STK11IP_ENST00000295641.10_Splice_Site|STK11IP_ENST00000459692.1_Splice_Site			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein						protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTTTCTGCAGGGGATGTGGT	0.507000													8	21					3.86212e-05	4.30869e-05	0.069234	1	0
SLAMF6	114836	broad.mit.edu	37	1	160465865	160465865	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:160465865G>T	ENST00000368059.3	-	2	437	c.368C>A	c.(367-369)aCt>aAt	p.T123N	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.T123N	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	123						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TATCCTCAGAGTGTAACTGGA	0.418000													32	208					6.05902e-23	9.51667e-23	0.064281	1	0
FAR2	55711	broad.mit.edu	37	12	29460731	29460731	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:29460731C>A	ENST00000182377.4	+	5	954	c.686C>A	c.(685-687)cCc>cAc	p.P229H	FAR2_ENST00000547116.1_Missense_Mutation_p.P132H|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.P229H	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	229					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						ATCATAAGGCCCTCCATTGTG	0.478000													8	32					0.0477658	0.0493392	0.047766	1	0
MYOZ3	91977	broad.mit.edu	37	5	150042518	150042518	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:150042518G>C	ENST00000297130.4	+	2	214	c.15G>C	c.(13-15)gaG>gaC	p.E5D	MYOZ3_ENST00000517768.1_Missense_Mutation_p.E5D	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	5						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCAAGGAGCAGAAGGGGC	0.582000													4	28					0	0	0.021553	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18706887	18706887	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:18706887G>T	ENST00000380548.4	+	14	2056	c.1717G>T	c.(1717-1719)Gca>Tca	p.A573S	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A573S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	573	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCCCAAGCCAGCATCCCAGCG	0.582000													8	16					1.12685e-05	1.27992e-05	0.047766	1	0
CD4	920	broad.mit.edu	37	12	6926294	6926294	+	Splice_Site	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:6926294A>T	ENST00000011653.4	+	7	1213		c.e7-1			NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule						cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GTTCCTCTGCAGCCACTCAGC	0.468000													16	33					0	0	0.038395	0	0
SYK	6850	broad.mit.edu	37	9	93650066	93650066	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:93650066C>T	ENST00000375754.4	+	12	1765	c.1617C>T	c.(1615-1617)taC>taT	p.Y539Y	SYK_ENST00000375751.4_Silent_p.Y516Y|SYK_ENST00000375746.1_Silent_p.Y539Y|SYK_ENST00000375747.1_Silent_p.Y516Y	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	539	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCAAGTGGTACGCTCCGGAAT	0.483000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								37	101					0	0	0.111260	0	0
NEU3	10825	broad.mit.edu	37	11	74717303	74717303	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:74717303C>T	ENST00000294064.4	+	3	2079	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Silent_p.P275P|NEU3_ENST00000544263.1_Silent_p.P351P|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Silent_p.P384P	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	384										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						ACCAGACCCCCTTGGAGGCTG	0.567000													36	48					0	0	0.059317	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018047	101018047	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:101018047C>T	ENST00000537247.1	+	10	2106	c.1152C>T	c.(1150-1152)caC>caT	p.H384H	GAS2L3_ENST00000547754.1_Silent_p.H488H|GAS2L3_ENST00000266754.5_Silent_p.H488H|GAS2L3_ENST00000539410.1_Silent_p.H488H			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	488					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGTATCTCACTTAGCTGCAC	0.378000													10	44					0	0	0.058154	0	0
NOBOX	135935	broad.mit.edu	37	7	144098309	144098309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:144098309G>T	ENST00000467773.1	-	4	673	c.674C>A	c.(673-675)tCa>tAa	p.S225*	NOBOX_ENST00000223140.5_Nonsense_Mutation_p.S140*|NOBOX_ENST00000483238.1_Nonsense_Mutation_p.S225*	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	225					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCACGGGCTGAGTTAGGGGC	0.592000													10	16					9.70103e-10	1.25073e-09	0.069234	1	0
SSR3	6747	broad.mit.edu	37	3	156266737	156266737	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:156266737C>T	ENST00000265044.2	-	3	410	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	SSR3_ENST00000478842.1_5'UTR|SSR3_ENST00000476217.1_Missense_Mutation_p.E106K|SSR3_ENST00000463503.1_Missense_Mutation_p.E54K|SSR3_ENST00000467789.1_Missense_Mutation_p.E106K|SSR3_ENST00000496050.1_Missense_Mutation_p.E54K	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	106					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTATCAGCTTCAGAAAGTTTT	0.378000													13	83					0	0	0.146539	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994802	140994802	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:140994802G>T	ENST00000285879.4	+	4	1898	c.1612G>T	c.(1612-1614)Gag>Tag	p.E538*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	538							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTCTTCCTGAGTGGGAGGA	0.542000										HNSCC(15;0.026)			55	123					1.0442e-30	1.69465e-30	0.139131	1	0
EPB42	2038	broad.mit.edu	37	15	43513011	43513011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:43513011C>A	ENST00000300215.3	-	1	470	c.13G>T	c.(13-15)Gag>Tag	p.E5*	EPB42_ENST00000441366.2_Intron|EPB42_ENST00000540029.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGCTTGGCTCACCCTGTCCC	0.577000													15	49					0.11911	0.12132	0.119110	1	0
PCDH15	65217	broad.mit.edu	37	10	55892663	55892663	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:55892663C>A	ENST00000373965.2	-	16	2304	c.1910G>T	c.(1909-1911)aGg>aTg	p.R637M	PCDH15_ENST00000320301.6_Missense_Mutation_p.R630M|PCDH15_ENST00000373955.1_Missense_Mutation_p.R630M|PCDH15_ENST00000414778.1_Missense_Mutation_p.R635M|PCDH15_ENST00000395430.1_Missense_Mutation_p.R630M|PCDH15_ENST00000361849.3_Missense_Mutation_p.R630M|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R608M|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.R630M|PCDH15_ENST00000395438.1_Missense_Mutation_p.R630M|PCDH15_ENST00000395445.1_Missense_Mutation_p.R637M|PCDH15_ENST00000409834.1_Missense_Mutation_p.R241M|PCDH15_ENST00000373957.3_Missense_Mutation_p.R608M|PCDH15_ENST00000395432.2_Missense_Mutation_p.R593M	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	630	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCACCAACCCTCATGGCTTC	0.408000										HNSCC(58;0.16)			9	37					0.000673444	0.000723726	0.069234	1	0
OR5R1	219479	broad.mit.edu	37	11	56185348	56185348	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:56185348C>A	ENST00000312253.1	-	1	360	c.361G>T	c.(361-363)Gat>Tat	p.D121Y		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	121			D -> G (in dbSNP:rs7111634).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ACATAGCAATCGTAGGCCATG	0.463000													13	56					9.31168e-06	1.06177e-05	0.105934	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261729	39261729	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:39261729G>A	ENST00000391415.1	+	1	146	c.89G>A	c.(88-90)tGt>tAt	p.C30Y		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	30	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCCAGCTGCTGTGAGACCACC	0.642000													8	24					0	0	0.038147	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860693	67860693	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:67860693G>C	ENST00000388833.3	+	12	1715	c.1338G>C	c.(1336-1338)aaG>aaC	p.K446N	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.K431N|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.K500N	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	446					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		AAAATATCAAGATCTTCCACT	0.478000													4	169					0	0	0.021553	0	0
CSMD1	64478	broad.mit.edu	37	8	3245095	3245095	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:3245095C>A	ENST00000602557.1	-	19	3261	c.2706G>T	c.(2704-2706)ccG>ccT	p.P902P	CSMD1_ENST00000539096.1_Silent_p.P901P|CSMD1_ENST00000400186.3_Silent_p.P902P|CSMD1_ENST00000520002.1_Silent_p.P902P|CSMD1_ENST00000542608.1_Silent_p.P901P|CSMD1_ENST00000537824.1_Silent_p.P901P|CSMD1_ENST00000602723.1_Silent_p.P902P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	902	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTGTACCCCGGGTCACAGC	0.607000													4	5					0.00909568	0.00950715	0.009096	1	0
UNCX	340260	broad.mit.edu	37	7	1273220	1273220	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:1273220C>T	ENST00000316333.8	+	2	450	c.339C>T	c.(337-339)acC>acT	p.T113T		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	113					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T113T(1)		lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCAACTTCACCGGCTGGCAGC	0.687000													8	46					0	0	0.038147	0	0
AGO1	26523	broad.mit.edu	37	1	36358880	36358880	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:36358880G>T	ENST00000373204.4	+	4	725		c.e4+1		AGO1_ENST00000373206.1_Splice_Site	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CATCCATGAGGTATTGGGTGT	0.552000													9	52					0.000274275	0.000298776	0.047766	1	0
TMEM136	219902	broad.mit.edu	37	11	120198288	120198288	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:120198288C>T	ENST00000375095.2	+	2	379	c.138C>T	c.(136-138)ctC>ctT	p.L46L	TMEM136_ENST00000529187.1_Silent_p.L68L|TMEM136_ENST00000314475.2_Silent_p.L68L|TMEM136_ENST00000531346.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	46	TLC.					integral to membrane				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		ATGGAGTCCTCTCTATAGGCC	0.512000													11	34					0	0	0.093190	0	0
NOTCH2	4853	broad.mit.edu	37	1	120484160	120484160	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:120484160C>G	ENST00000256646.2	-	18	3189	c.2970G>C	c.(2968-2970)gaG>gaC	p.E990D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	990	EGF-like 26; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCAGTGCACTCATTGATGT	0.483000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				5	34					0	0	0.021553	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85521791	85521791	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:85521791A>G	ENST00000393217.2	+	18	4250	c.4189A>G	c.(4189-4191)Aag>Gag	p.K1397E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1397	IQ 3.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACAGAGGGAGAAGGCTGCTAT	0.308000													42	54					0	0	0.131918	0	0
LGR6	59352	broad.mit.edu	37	1	202245542	202245542	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:202245542C>A	ENST00000367278.3	+	5	626	c.537C>A	c.(535-537)gtC>gtA	p.V179V	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.V127V|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	179						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGATCCCTGTCAGGGCCCTCA	0.627000													14	40					9.16793e-09	1.14501e-08	0.033300	1	0
CASS4	57091	broad.mit.edu	37	20	55027954	55027954	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:55027954G>T	ENST00000371336.3	+	5	1923	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.K574N	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	574					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAGACATCAAGAGGTTTGCCT	0.473000													14	68					1.5842e-08	1.95905e-08	0.105934	1	0
ARMC4	55130	broad.mit.edu	37	10	28224001	28224001	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:28224001T>A	ENST00000305242.5	-	16	2525	c.2433A>T	c.(2431-2433)caA>caT	p.Q811H	ARMC4_ENST00000545014.1_Missense_Mutation_p.Q336H|ARMC4_ENST00000537576.1_Missense_Mutation_p.Q503H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	811							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAAGAAGAGCTTGGTTTATTC	0.443000													34	116					0	0	0.050027	0	0
IKZF1	10320	broad.mit.edu	37	7	50367289	50367289	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:50367289G>T	ENST00000331340.3	+	3	251	c.96G>T	c.(94-96)ccG>ccT	p.P32P	IKZF1_ENST00000357364.4_Silent_p.P32P|IKZF1_ENST00000413698.1_Silent_p.P32P|IKZF1_ENST00000343574.5_Silent_p.P32P|IKZF1_ENST00000359197.5_Silent_p.P32P|IKZF1_ENST00000438033.1_Silent_p.P32P|IKZF1_ENST00000492782.1_3'UTR|IKZF1_ENST00000440768.2_Silent_p.P32P|IKZF1_ENST00000439701.1_Silent_p.P32P|IKZF1_ENST00000346667.4_Silent_p.P32P|IKZF1_ENST00000349824.4_Silent_p.P32P	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	32					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(33)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGCCCATGCCGATCCCCGAGG	0.582000			"""D,T"""	BCL6	"""ALL, DLBCL"""								3	27					2.56e-06	2.99691e-06	0.009096	1	0
SERPINA4	5267	broad.mit.edu	37	14	95033556	95033556	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:95033556G>T	ENST00000557004.1	+	3	1320	c.899G>T	c.(898-900)aGg>aTg	p.R300M	SERPINA4_ENST00000298841.5_Missense_Mutation_p.R300M|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R300M			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	300					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATGCTAATGAGGTGGAACAAC	0.448000													26	40					3.65163e-15	5.34355e-15	0.116897	1	0
NSD1	64324	broad.mit.edu	37	5	176710798	176710798	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:176710798T>C	ENST00000439151.2	+	20	6065	c.6020T>C	c.(6019-6021)aTt>aCt	p.I2007T	NSD1_ENST00000354179.4_Missense_Mutation_p.I1738T|NSD1_ENST00000347982.4_Missense_Mutation_p.I1738T|NSD1_ENST00000361032.4_Missense_Mutation_p.I1904T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2007	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GACCGAATCATTGATGCTGGT	0.428000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			14	78					0	0	0.132662	0	0
DZANK1	55184	broad.mit.edu	37	20	18396000	18396000	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:18396000C>A	ENST00000357236.4	-	12	1365	c.706G>T	c.(706-708)Gcg>Tcg	p.A236S	DZANK1_ENST00000262547.5_Missense_Mutation_p.A350S|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Missense_Mutation_p.A352S|DZANK1_ENST00000377630.5_Missense_Mutation_p.A177S			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	177						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CAGAAGGACGCCTCCCAGAGA	0.562000													17	35					5.03518e-11	6.79092e-11	0.043863	1	0
HELT	391723	broad.mit.edu	37	4	185941605	185941605	+	Silent	SNP	G	G	A	rs151053318		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:185941605G>A	ENST00000338875.4	+	4	663	c.663G>A	c.(661-663)ccG>ccA	p.P221P	HELT_ENST00000505610.1_Silent_p.P135P|HELT_ENST00000515777.1_Silent_p.P136P	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	221	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCTTTCCGCCGCTGGGTTCGC	0.692000													6	30					0	0	0.038147	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322883	79322883	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:79322883C>A	ENST00000428286.1	-	8	4430	c.3230G>T	c.(3229-3231)aGt>aTt	p.S1077I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S1436I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1436					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTTCTTTGACTCATGAGGTG	0.408000													16	97					2.23348e-06	2.61816e-06	0.146539	1	0
SVEP1	79987	broad.mit.edu	37	9	113170561	113170561	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:113170561C>T	ENST00000401783.2	-	38	7655	c.7319G>A	c.(7318-7320)tGt>tAt	p.C2440Y	SVEP1_ENST00000374469.1_Missense_Mutation_p.C2417Y|SVEP1_ENST00000297826.5_Missense_Mutation_p.C366Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2440	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGTTGGGGACATTCTACTGG	0.498000													9	25					0	0	0.069234	0	0
SPATA5	166378	broad.mit.edu	37	4	124011838	124011838	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:124011838A>T	ENST00000274008.3	+	14	2387	c.2318A>T	c.(2317-2319)aAc>aTc	p.N773I	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	773					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GCAGCTACTAACCGTCCAGAT	0.398000													28	77					0	0	0.144211	0	0
KIAA0753	9851	broad.mit.edu	37	17	6524258	6524258	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:6524258C>T	ENST00000361413.3	-	7	1523	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	KIAA0753_ENST00000542606.1_Missense_Mutation_p.E90K|KIAA0753_ENST00000572370.1_Missense_Mutation_p.E90K	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	389						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CTCCGAATTTCACTGAAACAT	0.438000													12	73					0	0	0.105934	0	0
ANP32A	8125	broad.mit.edu	37	15	69076789	69076789	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:69076789G>A	ENST00000465139.2	-	4	616	c.473C>T	c.(472-474)tCg>tTg	p.S158L	ANP32A_ENST00000560303.1_Missense_Mutation_p.S158L|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	158	LRRCT.|Necessary for tumor-suppressive function.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						CTCAGCATCCGAGTCAGGGGC	0.612000													7	40					0	0	0.029380	0	0
PPP1R21	129285	broad.mit.edu	37	2	48725789	48725789	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:48725789A>T	ENST00000294952.8	+	17	2007	c.1850A>T	c.(1849-1851)cAg>cTg	p.Q617L	PPP1R21_ENST00000449090.2_Missense_Mutation_p.Q586L|PPP1R21_ENST00000281394.4_Missense_Mutation_p.Q617L	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	617										endometrium(2)|kidney(4)|lung(9)	15						GGGCTGGCCCAGGAAAATGCT	0.483000													7	57					0	0	0.029380	0	0
MYO9B	4650	broad.mit.edu	37	19	17265172	17265172	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:17265172G>C	ENST00000595618.1	+	6	1298	c.1146G>C	c.(1144-1146)gaG>gaC	p.E382D	MYO9B_ENST00000594824.1_Missense_Mutation_p.E382D|MYO9B_ENST00000397274.2_Missense_Mutation_p.E382D|CTD-3032J10.2_ENST00000597216.1_RNA|CTD-3032J10.2_ENST00000599360.1_RNA	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	382	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATGACTTTGAGAGGCTCAAGC	0.597000													14	73					0	0	0.038395	0	0
KCNQ5	56479	broad.mit.edu	37	6	73713683	73713683	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:73713683G>C	ENST00000342056.2	+	2	849	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	KCNQ5_ENST00000370392.1_Missense_Mutation_p.E151Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.E151Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E151Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E151Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E151Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E151Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.E151Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	151					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TACCATCCCTGAGCACACAAA	0.353000													14	68					0	0	0.146539	0	0
ROBO2	6092	broad.mit.edu	37	3	77607213	77607213	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:77607213C>G	ENST00000461745.1	+	9	2250	c.1350C>G	c.(1348-1350)agC>agG	p.S450R	ROBO2_ENST00000487694.3_Missense_Mutation_p.S466R|ROBO2_ENST00000332191.8_Missense_Mutation_p.S450R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	450	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTAATTAGCTGGTTAAAGG	0.438000													25	45					0	0	0.091800	0	0
BRCA2	675	broad.mit.edu	37	13	32910782	32910782	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:32910782G>A	ENST00000544455.1	+	11	2517	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E764K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	764	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATATGATCATGAAAATGCCAG	0.378000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			32	44					0	0	0.054565	0	0
MRC2	9902	broad.mit.edu	37	17	60754710	60754710	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:60754710C>T	ENST00000303375.5	+	12	2317	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	639	C-type lectin 3.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TACCTCGTTCCGGGCCCGCTA	0.697000													5	9					0	0	0.014758	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42441919	42441919	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:42441919T>G	ENST00000397272.3	-	11	1142	c.1051A>C	c.(1051-1053)Agt>Cgt	p.S351R	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.S351R	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	351	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)		ACCTGGCCACTGTCCAGAGCC	0.577000													7	22					0	0	0.038147	0	0
THBS4	7060	broad.mit.edu	37	5	79378940	79378940	+	Missense_Mutation	SNP	G	G	C	rs140954796	byFrequency	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:79378940G>C	ENST00000350881.2	+	22	3052	c.2862G>C	c.(2860-2862)caG>caC	p.Q954H	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000504720.1_3'UTR|THBS4_ENST00000511733.1_Missense_Mutation_p.Q863H	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	954					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTCAAACCCAGAATTTCGACC	0.458000											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	64					0	0	0.083992	0	0
EPHX4	253152	broad.mit.edu	37	1	92515965	92515965	+	Silent	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:92515965A>T	ENST00000370383.4	+	5	794	c.696A>T	c.(694-696)atA>atT	p.I232I		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	232						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGTTCTCAATAAATGATTTCA	0.264000													14	86					0	0	0.105934	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415674	121415674	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:121415674C>A	ENST00000393667.3	-	13	3806	c.3696G>T	c.(3694-3696)gaG>gaT	p.E1232D	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1227D	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1227					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCCAATATTCTCATTTTCCT	0.443000													44	215					3.05275e-18	4.62921e-18	0.131918	1	0
KIAA1804	84451	broad.mit.edu	37	1	233514942	233514942	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:233514942G>T	ENST00000366624.3	+	9	2451	c.2190G>T	c.(2188-2190)ctG>ctT	p.L730L	MLK4_ENST00000366622.1_Silent_p.L176L	NM_032435.2	NP_115811.2																					CCGTCCTTCTGGCATCGGTGG	0.522000													13	75					1.5842e-08	1.95905e-08	0.105934	1	0
MYLIP	29116	broad.mit.edu	37	6	16145328	16145328	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:16145328A>G	ENST00000349606.4	+	5	989	c.485A>G	c.(484-486)aAc>aGc	p.N162S	MYLIP_ENST00000356840.3_Missense_Mutation_p.N343S			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	343	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TCAAGAAACAACCAGAGCCCT	0.522000													17	150					0	0	0.146539	0	0
HPX	3263	broad.mit.edu	37	11	6452500	6452500	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:6452500C>A	ENST00000265983.3	-	10	1430	c.1330G>T	c.(1330-1332)Gca>Tca	p.A444S		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	444					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCCTTGGCTGCATTCAGTTTC	0.562000													3	53					0.115264	0.11754	0.115264	1	0
RPS19	6223	broad.mit.edu	37	19	42373137	42373137	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:42373137C>T	ENST00000598742.1	+	4	581	c.209C>T	c.(208-210)gCt>gTt	p.A70V	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Missense_Mutation_p.A70V	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	70					endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CGGGGTGGCGCTGGGGTTGGC	0.597000									Diamond-Blackfan Anemia				11	28					0	0	0.093190	0	0
FSCB	84075	broad.mit.edu	37	14	44976002	44976002	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:44976002C>A	ENST00000340446.4	-	1	480	c.189G>T	c.(187-189)aaG>aaT	p.K63N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	63						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CCTGTCCATGCTTTCTCTTTG	0.413000													35	162					1.62565e-12	2.24775e-12	0.050027	1	0
CHRM1	1128	broad.mit.edu	37	11	62678510	62678510	+	Silent	SNP	A	A	T	rs1065428		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:62678510A>T	ENST00000306960.3	-	2	604	c.63T>A	c.(61-63)ggT>ggA	p.G21G	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	21					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTTGCCAGGGACCCTTTCCTG	0.602000													22	27					0	0	0.076483	0	0
RNFT2	84900	broad.mit.edu	37	12	117217093	117217093	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:117217093C>A	ENST00000257575.4	+	7	1055	c.822C>A	c.(820-822)acC>acA	p.T274T	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000392549.2_Silent_p.T274T|RNFT2_ENST00000407967.3_Silent_p.T274T			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	274						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGTACATCACCATCGCCCTCA	0.557000													10	72					0.00621372	0.00654154	0.058154	1	0
PIP	5304	broad.mit.edu	37	7	142836633	142836633	+	Silent	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:142836633C>G	ENST00000291009.3	+	4	379	c.339C>G	c.(337-339)gtC>gtG	p.V113V		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	113						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TTGCAGCCGTCGTTGATGTTA	0.448000													102	111					0	0	0.139131	0	0
GRM5	2915	broad.mit.edu	37	11	88301015	88301015	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:88301015G>A	ENST00000418177.2	-	8	2203	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	GRM5_ENST00000305432.5_Silent_p.S612S|GRM5_ENST00000393297.1_Silent_p.S612S|GRM5_ENST00000455756.2_Silent_p.S612S|GRM5_ENST00000305447.4_Silent_p.S612S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	612					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCCTGCTTGAGGACTTGACTA	0.498000													14	26					0	0	0.132662	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454601	84454601	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:84454601C>A	ENST00000377084.2	-	1	1927	c.1042G>T	c.(1042-1044)Gac>Tac	p.D348Y		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	348	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGATGTGGTCGCAGCTGCAG	0.537000													25	38					5.35047e-06	6.17308e-06	0.083992	1	0
GBP4	115361	broad.mit.edu	37	1	89654379	89654379	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:89654379C>T	ENST00000355754.6	-	8	1393	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	432						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TGCTTTCTGTCAGGTGCTCTG	0.448000													76	289					0	0	0.139131	0	0
SPINT4	391253	broad.mit.edu	37	20	44352523	44352523	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:44352523C>A	ENST00000279058.3	+	2	137	c.120C>A	c.(118-120)ccC>ccA	p.P40P		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	40						extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				ATGCAGATCCCTGCAAATTGG	0.413000													22	83					5.35356e-11	7.17622e-11	0.076483	1	0
GRIK4	2900	broad.mit.edu	37	11	120702635	120702635	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:120702635G>A	ENST00000527524.2	+	7	873	c.586G>A	c.(586-588)Gac>Aac	p.D196N	GRIK4_ENST00000438375.2_Missense_Mutation_p.D196N			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	196					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CATGCTGGATGACACCCGGGA	0.602000													20	53					0	0	0.069288	0	0
DDX11	1663	broad.mit.edu	37	12	31244773	31244773	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:31244773G>T	ENST00000407793.2	+	10	1461	c.1210G>T	c.(1210-1212)Ggc>Tgc	p.G404C	DDX11_ENST00000350437.4_Missense_Mutation_p.G404C|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.G404C|DDX11_ENST00000228264.6_Missense_Mutation_p.G378C|DDX11_ENST00000542838.1_Missense_Mutation_p.G404C	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	404	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CACCATCACGGGCATGCACAG	0.667000										Multiple Myeloma(12;0.14)			9	46					3.07112e-06	3.57145e-06	0.080935	1	0
CDH12	1010	broad.mit.edu	37	5	21854858	21854858	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:21854858G>T	ENST00000382254.1	-	7	1654	c.568C>A	c.(568-570)Ccg>Acg	p.P190T	CDH12_ENST00000504376.2_Missense_Mutation_p.P190T|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	190	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCATAGGTCGGGTCATCTGCA	0.403000										HNSCC(59;0.17)			12	89					6.40141e-05	7.10549e-05	0.080935	1	0
C2orf16	84226	broad.mit.edu	37	2	27800211	27800211	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:27800211C>A	ENST00000408964.2	+	1	823	c.772C>A	c.(772-774)Caa>Aaa	p.Q258K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	258										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCCACTGCAGCAAACTGTGGA	0.448000													19	119					9.95505e-16	1.47644e-15	0.069288	1	0
SYNE2	23224	broad.mit.edu	37	14	64444719	64444719	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:64444719G>C	ENST00000358025.3	+	13	1620	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.E464Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E464Q|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	464					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAACAAATTGGAGGAAATGAA	0.393000													12	53					0	0	0.093190	0	0
OVCH1	341350	broad.mit.edu	37	12	29604451	29604451	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:29604451G>T	ENST00000318184.5	-	22	2581	c.2582C>A	c.(2581-2583)cCa>cAa	p.P861Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	861	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TAGATACCGTGGTGTGGGAAA	0.433000													3	27					0.00909568	0.00950715	0.009096	1	0
SMAD9	4093	broad.mit.edu	37	13	37446930	37446930	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:37446930C>A	ENST00000379826.4	-	3	877	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	SMAD9_ENST00000399275.2_Missense_Mutation_p.D179Y|SMAD9_ENST00000350148.5_Missense_Mutation_p.D179Y	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	179					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TGGAAAGAGTCAGGATAGGTG	0.622000													19	26					5.3912e-06	6.20377e-06	0.038395	1	0
NPY2R	4887	broad.mit.edu	37	4	156135161	156135161	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:156135161C>A	ENST00000329476.3	+	2	559	c.70C>A	c.(70-72)Cca>Aca	p.P24T	NPY2R_ENST00000506608.1_Missense_Mutation_p.P24T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	24					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ACAATACGGGCCACAAACAAC	0.483000													14	36					1.5842e-08	1.95905e-08	0.105934	1	0
SPTLC1	10558	broad.mit.edu	37	9	94877644	94877644	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:94877644G>A	ENST00000262554.2	-	1	14	c.9C>T	c.(7-9)acC>acT	p.T3T	SPTLC1_ENST00000337841.4_Silent_p.T3T|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	3						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCTCCGTGGCGGTCGCCATAG	0.662000													8	23					0	0	0.047766	0	0
GPR111	222611	broad.mit.edu	37	6	47649631	47649631	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:47649631C>A	ENST00000398742.2	+	5	1181	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	GPR111_ENST00000507065.1_Missense_Mutation_p.L378M|GPR111_ENST00000296862.1_Missense_Mutation_p.L446M			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	446					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAGTCTGATTCTGACTTACAT	0.428000													23	192					1.45844e-13	2.06533e-13	0.054565	1	0
AXDND1	126859	broad.mit.edu	37	1	179347772	179347772	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:179347772G>T	ENST00000367618.3	+	5	762	c.374_splice	c.e5-1	p.R125_splice	AXDND1_ENST00000457238.2_Splice_Site_p.R125_splice|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	125										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TACTTTTTAGGGATATTTCTT	0.383000													5	62					0.000602214	0.000647971	0.014758	1	0
GBA3	57733	broad.mit.edu	37	4	22729141	22729141	+	RNA	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:22729141G>T	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCACGGGCCAGCTTTTCAGCA	0.463000													48	169					5.13769e-22	8.01224e-22	0.139131	1	0
ITSN2	50618	broad.mit.edu	37	2	24494747	24494747	+	Silent	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:24494747T>C	ENST00000355123.4	-	19	2588	c.2145A>G	c.(2143-2145)aaA>aaG	p.K715K	ITSN2_ENST00000406921.3_Silent_p.K715K|ITSN2_ENST00000361999.3_Silent_p.K688K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	715					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gtcgcttttgtttttcttctt	0.338000													10	84					0	0	0.058154	0	0
COX7B2	170712	broad.mit.edu	37	4	46737089	46737089	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:46737089C>T	ENST00000396533.1	-	4	371	c.121G>A	c.(121-123)Gct>Act	p.A41T	COX7B2_ENST00000543208.1_Missense_Mutation_p.A40T|COX7B2_ENST00000302930.5_Missense_Mutation_p.A41T|COX7B2_ENST00000355591.3_Missense_Mutation_p.A41T			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	41						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						GCTAGCACAGCATTACCATAT	0.423000													24	70					0	0	0.108266	0	0
LPPR3	79948	broad.mit.edu	37	19	814458	814458	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:814458G>A	ENST00000359894.2	-	6	954	c.891C>T	c.(889-891)atC>atT	p.I297I	LPPR3_ENST00000520876.3_Silent_p.I269I	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		269						integral to membrane	phosphatidate phosphatase activity										TGCCCGCCCCGATGAGGAAGC	0.662000													6	19					0	0	0.029380	0	0
RNF219	79596	broad.mit.edu	37	13	79216266	79216266	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:79216266T>A	ENST00000282003.6	-	3	349	c.291A>T	c.(289-291)aaA>aaT	p.K97N		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	97							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CCTCATATTCTTTGTGTAGTA	0.358000													38	56					0	0	0.092188	0	0
APBB1IP	54518	broad.mit.edu	37	10	26781306	26781306	+	Silent	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:26781306A>T	ENST00000376236.4	+	3	506	c.51A>T	c.(49-51)ggA>ggT	p.G17G	APBB1IP_ENST00000356785.4_Silent_p.G17G	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	17					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTTTGCTGGGAGAGATGGATC	0.388000													34	117					0	0	0.117977	0	0
SCARB1	949	broad.mit.edu	37	12	125298921	125298921	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:125298921T>C	ENST00000339570.5	-	4	653	c.457A>G	c.(457-459)Atg>Gtg	p.M153V	SCARB1_ENST00000546215.1_Missense_Mutation_p.M153V|SCARB1_ENST00000376788.1_Missense_Mutation_p.M53V|SCARB1_ENST00000415380.2_Missense_Mutation_p.M153V|SCARB1_ENST00000541205.1_Missense_Mutation_p.M112V|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000540495.1_Missense_Mutation_p.M116V|SCARB1_ENST00000544327.1_Missense_Mutation_p.M99V|SCARB1_ENST00000261693.6_Missense_Mutation_p.M153V	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	153					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TTCAGGGTCATGGGCTTATTC	0.602000													10	19					0	0	0.093190	0	0
NBPF10	100132406	broad.mit.edu	37	1	145304530	145304530	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:145304530C>G	ENST00000342960.5	+	10	1498	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.S217C|NBPF10_ENST00000369339.2_Missense_Mutation_p.S217C	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	488										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGCCATGGCTCTTATGACTCC	0.473000													40	665					0	0	0.098360	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040889	184040889	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:184040889C>T	ENST00000342981.4	+	13	2362	c.1948C>T	c.(1948-1950)Cgg>Tgg	p.R650W	EIF4G1_ENST00000346169.2_Missense_Mutation_p.R650W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R610W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R486W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R657W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R486W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R454W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R657W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R454W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R610W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R563W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R563W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R650W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R657W|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	650	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACACCACTGCGGCCACTGGA	0.547000													82	85					0	0	0.139131	0	0
PCDH15	65217	broad.mit.edu	37	10	55569194	55569194	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:55569194G>T	ENST00000395445.1	-	36	5010	c.4616C>A	c.(4615-4617)aCa>aAa	p.T1539K	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.T404K|PCDH15_ENST00000395440.1_Missense_Mutation_p.T473K|PCDH15_ENST00000395446.1_Missense_Mutation_p.T735K|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCTTCCATGTTGTGTATGT	0.398000										HNSCC(58;0.16)			59	134					2.23044e-30	3.61314e-30	0.139131	1	0
SYNE2	23224	broad.mit.edu	37	14	64630226	64630226	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:64630226C>A	ENST00000357395.3	+	90	16705	c.5561C>A	c.(5560-5562)cCg>cAg	p.P1854Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.P5469Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.P5386Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.P1854Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.P5469Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.P2103Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5469					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGCTCCTCCCGGGCCCCCTG	0.483000													16	43					0.000566183	0.000612958	0.033300	1	0
CARD6	84674	broad.mit.edu	37	5	40853382	40853382	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:40853382G>T	ENST00000254691.5	+	3	2147	c.1948G>T	c.(1948-1950)Gcc>Tcc	p.A650S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	650					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGCCGCCCTGGCCAGGGAGCT	0.517000													142	196					5.71173e-70	9.57041e-70	0.139131	1	0
OR8D1	283159	broad.mit.edu	37	11	124180299	124180299	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:124180299G>T	ENST00000357821.2	-	1	434	c.364C>A	c.(364-366)Cgc>Agc	p.R122S		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAACATAGCGATCATATGCC	0.488000													3	11					0.115264	0.11754	0.115264	1	0
EXPH5	23086	broad.mit.edu	37	11	108382200	108382200	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:108382200T>A	ENST00000265843.4	-	6	4144	c.4034A>T	c.(4033-4035)cAg>cTg	p.Q1345L	EXPH5_ENST00000443411.1_Missense_Mutation_p.Q1157L|EXPH5_ENST00000525344.1_Missense_Mutation_p.Q1338L|EXPH5_ENST00000428840.1_Missense_Mutation_p.Q1269L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1345					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGCCATTTCCTGTAATGTAGG	0.418000													14	32					0	0	0.105934	0	0
RUNDC1	146923	broad.mit.edu	37	17	41141522	41141522	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:41141522C>G	ENST00000361677.1	+	3	834	c.822C>G	c.(820-822)atC>atG	p.I274M		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	274										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AAACTCAGATCCGAGACCTTG	0.463000													4	37					0	0	0.014758	0	0
GPR21	2844	broad.mit.edu	37	9	125797433	125797433	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:125797433G>A	ENST00000373642.1	+	1	628	c.588G>A	c.(586-588)gtG>gtA	p.V196V	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	196						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TGTTCATCGTGATGATGTTAT	0.493000													27	91					0	0	0.116897	0	0
NCDN	23154	broad.mit.edu	37	1	36026229	36026229	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:36026229G>A	ENST00000373243.2	+	3	860	c.477G>A	c.(475-477)ctG>ctA	p.L159L	NCDN_ENST00000373253.3_Silent_p.L142L|NCDN_ENST00000356090.4_Silent_p.L159L|NCDN_ENST00000459931.1_3'UTR	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	159					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACCAGTGCCTGACGGCTGTAG	0.617000													14	89					0	0	0.132662	0	0
OR14A16	284532	broad.mit.edu	37	1	247978617	247978617	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:247978617A>T	ENST00000357627.1	-	1	414	c.415T>A	c.(415-417)Tgt>Agt	p.C139S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CTTTGGACACAGGTGCTCCTG	0.522000													32	146					0	0	0.059317	0	0
PM20D2	135293	broad.mit.edu	37	6	89864535	89864535	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:89864535C>T	ENST00000275072.4	+	4	921	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	276							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		CTATTACTTCCGTGCACCCTC	0.353000													20	82					0	0	0.055883	0	0
CNPY1	285888	broad.mit.edu	37	7	155301615	155301615	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:155301615C>A	ENST00000321736.5	-	2	280	c.118G>T	c.(118-120)Gat>Tat	p.D40Y	CNPY1_ENST00000406197.1_Missense_Mutation_p.D40Y	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	40										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGTAAGCATCAGAATAAAAA	0.363000													15	92					6.31663e-08	7.67081e-08	0.132662	1	0
CWH43	80157	broad.mit.edu	37	4	49063869	49063869	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:49063869C>A	ENST00000226432.4	+	16	2245	c.2062C>A	c.(2062-2064)Cat>Aat	p.H688N	CWH43_ENST00000513409.1_Missense_Mutation_p.H661N	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	688					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGAAAACAACCATCATTTTCA	0.249000													6	22					5.18039e-06	5.98472e-06	0.038147	1	0
LRP1	4035	broad.mit.edu	37	12	57599408	57599408	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:57599408C>T	ENST00000243077.3	+	75	12004	c.11538C>T	c.(11536-11538)ctC>ctT	p.L3846L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3846	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGGCCACCTCTGCAGCTGCG	0.627000													9	36					0	0	0.058154	0	0
POLR3A	11128	broad.mit.edu	37	10	79778975	79778975	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:79778975G>A	ENST00000372371.3	-	9	1371	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	412					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGAACCTCAGGGCCGTTTTGA	0.398000													24	130					0	0	0.108266	0	0
MEI1	150365	broad.mit.edu	37	22	42095615	42095615	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:42095615G>A	ENST00000401548.3	+	1	113	c.73G>A	c.(73-75)Gag>Aag	p.E25K	MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	25							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCTTCTATTCGAGAGGGCCCA	0.731000													4	16					0	0	0.021553	0	0
CD34	947	broad.mit.edu	37	1	208072542	208072542	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:208072542C>A	ENST00000356522.4	-	3	613	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L	CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Missense_Mutation_p.V98L	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	98					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GAGGTTATCACAGAGGTAGAT	0.443000													50	185					1.51926e-22	2.37773e-22	0.139131	1	0
SLC4A5	57835	broad.mit.edu	37	2	74479355	74479355	+	Missense_Mutation	SNP	C	C	G	rs148261645		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:74479355C>G	ENST00000394019.2	-	16	1826	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	SLC4A5_ENST00000423644.1_Missense_Mutation_p.E477Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.E477Q|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.E413Q|SLC4A5_ENST00000377632.1_Missense_Mutation_p.E477Q|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.E477Q|SLC4A5_ENST00000377634.4_Missense_Mutation_p.E477Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.E413Q	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	477	Gly-rich.					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCTGGCATCTCTCCATCATCC	0.642000													7	33					0	0	0.038147	0	0
SPAG16	79582	broad.mit.edu	37	2	215274880	215274880	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:215274880G>T	ENST00000331683.5	+	16	1832	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|SPAG16_ENST00000374309.3_Missense_Mutation_p.Q485H	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	579					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTTTAGCTCAGGCAAGTGGCA	0.423000													20	61					8.81451e-21	1.36252e-20	0.049695	1	0
MRPS15	64960	broad.mit.edu	37	1	36926372	36926372	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:36926372C>G	ENST00000373116.5	-	5	467	c.306G>C	c.(304-306)gaG>gaC	p.E102D		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	102					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTTTAGCATCTCCTTCTGTT	0.507000													6	30					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179456346	179456346	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:179456346A>G	ENST00000589042.1	-	303	60424	c.60200T>C	c.(60199-60201)aTa>aCa	p.I20067T	TTN_ENST00000460472.2_Missense_Mutation_p.I11002T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I11127T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I18426T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I17499T|TTN_ENST00000342175.6_Missense_Mutation_p.I11194T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18426	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACATTCTATCGGGATAGT	0.338000													8	234					0	0	0.069234	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917625	54917625	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:54917625C>A	ENST00000293373.6	+	20	2120	c.2041C>A	c.(2041-2043)Cta>Ata	p.L681I	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L631I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	681					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAAGCTACACCTAAACTTGAC	0.473000													15	61					1.5739e-10	2.08115e-10	0.146539	1	0
PPP1R17	10842	broad.mit.edu	37	7	31735207	31735207	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:31735207G>T	ENST00000342032.3	+	3	835	c.207G>T	c.(205-207)ccG>ccT	p.P69P	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	69					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AAGATACACCGGCGCTGCACA	0.458000													20	162					2.70639e-06	3.16407e-06	0.069288	1	0
OSMR	9180	broad.mit.edu	37	5	38925400	38925400	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:38925400C>T	ENST00000274276.3	+	15	2541	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	713	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATGAGTTTTTCATCACTCCAT	0.438000													52	167					0	0	0.139131	0	0
AMACR	23600	broad.mit.edu	37	5	33989425	33989425	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:33989425G>A	ENST00000335606.6	-	5	1010	c.922C>T	c.(922-924)Cac>Tac	p.H308Y	AMACR_ENST00000382085.3_Missense_Mutation_p.H308Y|AMACR_ENST00000502637.1_Missense_Mutation_p.H293Y|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382072.2_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	308					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TCCTTGTTGTGATCATGATGA	0.522000													29	88					0	0	0.050027	0	0
NOS1	4842	broad.mit.edu	37	12	117664545	117664545	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:117664545C>G	ENST00000317775.6	-	24	4332	c.3647G>C	c.(3646-3648)tGc>tCc	p.C1216S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.C1250S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1216	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAGGAGGAGCATACGCCGTG	0.542000													17	16					0	0	0.055883	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074163	8074163	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:8074163C>T	ENST00000377482.5	-	4	719	c.496G>A	c.(496-498)Gac>Aac	p.D166N	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	166					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CAGTCTGTGTCATCCAGAGAG	0.478000													24	58					0	0	0.091800	0	0
SMEK1	55671	broad.mit.edu	37	14	91942820	91942820	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:91942820G>C	ENST00000554684.1	-	6	1538	c.1042C>G	c.(1042-1044)Caa>Gaa	p.Q348E	SMEK1_ENST00000555462.1_Missense_Mutation_p.Q109E|SMEK1_ENST00000337238.4_Missense_Mutation_p.Q348E|SMEK1_ENST00000428424.2_Missense_Mutation_p.Q109E|SMEK1_ENST00000554943.1_Missense_Mutation_p.Q348E			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	348						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCTCTGTTTTGAGGCTGTAGC	0.299000													6	68					0	0	0.038147	0	0
RAB41	347517	broad.mit.edu	37	X	69502704	69502704	+	Splice_Site	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:69502704T>G	ENST00000374473.2	+	3	282	c.237_splice	c.e3+1	p.I79_splice	RAB41_ENST00000276066.4_Splice_Site_p.I78_splice			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	79					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						GAGGACCAAATAGTGAGTGTT	0.418000													43	30					0	0	0.139131	0	0
HERC4	26091	broad.mit.edu	37	10	69726544	69726544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:69726544C>A	ENST00000395198.3	-	16	2069	c.1822G>T	c.(1822-1824)Gga>Tga	p.G608*	HERC4_ENST00000277817.6_Nonsense_Mutation_p.G498*|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Nonsense_Mutation_p.G608*|HERC4_ENST00000373700.4_Nonsense_Mutation_p.G608*	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	608					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ATAATCTGTCCCATTTTCTCA	0.303000													9	13					0.000274275	0.000298776	0.047766	1	0
AIPL1	23746	broad.mit.edu	37	17	6331766	6331766	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:6331766G>A	ENST00000381129.3	-	3	417	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	AIPL1_ENST00000570466.1_Missense_Mutation_p.P91S|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000576776.1_Missense_Mutation_p.P113S|AIPL1_ENST00000576307.1_Missense_Mutation_p.P53S|AIPL1_ENST00000575265.1_Missense_Mutation_p.P113S|AIPL1_ENST00000574506.1_Missense_Mutation_p.P101S|AIPL1_ENST00000571740.1_Missense_Mutation_p.P113S	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	113	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CACTCTGTGGGGTCCTTGCCC	0.642000													24	14					0	0	0.091800	0	0
THAP9	79725	broad.mit.edu	37	4	83838448	83838448	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:83838448G>A	ENST00000302236.5	+	5	1134	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	361							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TTGGTAAACTGAGTGACATAG	0.423000													16	78					0	0	0.132662	0	0
CPD	1362	broad.mit.edu	37	17	28758861	28758861	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:28758861G>A	ENST00000225719.4	+	8	2165	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N	CPD_ENST00000543464.2_Missense_Mutation_p.D450N	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	697	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ATCACCAGATGATGCTGTGTT	0.313000													18	77					0	0	0.043863	0	0
NEB	4703	broad.mit.edu	37	2	152483676	152483676	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:152483676C>A	ENST00000397345.3	-	70	10389	c.10187G>T	c.(10186-10188)tGg>tTg	p.W3396L	NEB_ENST00000603639.1_Missense_Mutation_p.W3396L|NEB_ENST00000409198.1_Missense_Mutation_p.W3153L|NEB_ENST00000172853.10_Missense_Mutation_p.W3153L|NEB_ENST00000427231.2_Missense_Mutation_p.W3396L|NEB_ENST00000604864.1_Missense_Mutation_p.W3396L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3396					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGGGGACCCAGCCAATGCC	0.438000													21	23					5.45024e-15	7.93584e-15	0.083992	1	0
C15orf59	388135	broad.mit.edu	37	15	74032391	74032391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:74032391G>T	ENST00000569673.1	-	3	1953	c.749C>A	c.(748-750)tCa>tAa	p.S250*	C15orf59_ENST00000379822.4_Nonsense_Mutation_p.S250*|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	250										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTAGAGCCTGAGTGGCGGCT	0.632000													18	55					1.99824e-07	2.39679e-07	0.033300	1	0
ZNF556	80032	broad.mit.edu	37	19	2877386	2877386	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:2877386G>T	ENST00000586426.1	+	4	514	c.427G>T	c.(427-429)Gta>Tta	p.V143L	ZNF556_ENST00000307635.2_Missense_Mutation_p.V144L			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTACTAGTGTAAGACGGTA	0.403000													27	45					3.65163e-15	5.34355e-15	0.116897	1	0
L2HGDH	79944	broad.mit.edu	37	14	50760867	50760867	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:50760867T>A	ENST00000267436.4	-	4	903	c.506A>T	c.(505-507)cAg>cTg	p.Q169L	L2HGDH_ENST00000421284.3_Missense_Mutation_p.Q169L|L2HGDH_ENST00000555423.1_Missense_Mutation_p.Q169L|L2HGDH_ENST00000555610.1_Missense_Mutation_p.Q169L|L2HGDH_ENST00000261699.4_Missense_Mutation_p.Q169L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	169					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TATATCCTCCTGCTGGATCAG	0.453000													16	75					0	0	0.146539	0	0
LRP1B	53353	broad.mit.edu	37	2	141093207	141093207	+	Silent	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:141093207A>T	ENST00000389484.3	-	78	13064	c.12093T>A	c.(12091-12093)gcT>gcA	p.A4031A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4031					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTACTGCAATAGCATAGGGTT	0.393000										TSP Lung(27;0.18)			26	76					0	0	0.116897	0	0
ABCB5	340273	broad.mit.edu	37	7	20668361	20668361	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:20668361G>T	ENST00000404938.2	+	4	811	c.159G>T	c.(157-159)ctG>ctT	p.L53L		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	252	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGGTATACTGGCATCACTGG	0.438000													15	48					2.32078e-09	2.97033e-09	0.132662	1	0
TMEM132E	124842	broad.mit.edu	37	17	32964618	32964618	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:32964618G>T	ENST00000321639.5	+	10	2650	c.2322G>T	c.(2320-2322)gtG>gtT	p.V774V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	774						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCCGTCGTGCCACCCACAG	0.746000													8	38					0.00621372	0.00654154	0.058154	1	0
INSR	3643	broad.mit.edu	37	19	7117070	7117070	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:7117070G>A	ENST00000341500.5	-	21	4149	c.4110C>T	c.(4108-4110)tcC>tcT	p.S1370S	INSR_ENST00000302850.5_Silent_p.S1382S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1382					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCACTGTTAGGAAGGATTGG	0.542000													19	100					0	0	0.043863	0	0
C14orf166	51637	broad.mit.edu	37	14	52458074	52458074	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:52458074A>G	ENST00000261700.3	+	2	266	c.101A>G	c.(100-102)gAc>gGc	p.D34G	C14orf166_ENST00000556760.1_Missense_Mutation_p.D34G	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	34						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					TGGCTTGAAGACCAGAAAATC	0.363000													13	57					0	0	0.119110	0	0
C9	735	broad.mit.edu	37	5	39341354	39341354	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:39341354C>T	ENST00000263408.4	-	4	465	c.370G>A	c.(370-372)Gac>Aac	p.D124N	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	124	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTCCGCAGTCATTGTCACCA	0.463000													94	99					0	0	0.139131	0	0
OR7E24	26648	broad.mit.edu	37	19	9362458	9362458	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:9362458C>A	ENST00000456448.1	+	1	853	c.739C>A	c.(739-741)Cca>Aca	p.P247T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTGAGAGTTCCAACATCAGA	0.433000													8	11					5.4927e-09	6.96907e-09	0.047766	1	0
NMNAT2	23057	broad.mit.edu	37	1	183387360	183387360	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:183387360C>A	ENST00000287713.6	-	1	377	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C		NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	15					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TTGAAGCTGCCGCAGGCGAGC	0.582000													14	99					9.16793e-09	1.14501e-08	0.033300	1	0
SORCS1	114815	broad.mit.edu	37	10	108521404	108521404	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:108521404C>T	ENST00000263054.6	-	5	908	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E301K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	301						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCCAAATTCAGCAGAGCTG	0.363000													17	58					0	0	0.043863	0	0
ZNF43	7594	broad.mit.edu	37	19	21992413	21992413	+	Silent	SNP	C	C	T	rs34211771		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:21992413C>T	ENST00000594012.1	-	7	922	c.408G>A	c.(406-408)caG>caA	p.Q136Q	ZNF43_ENST00000354959.4_Silent_p.Q142Q|ZNF43_ENST00000598381.1_Silent_p.Q136Q|ZNF43_ENST00000595461.1_Silent_p.Q136Q	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATATTTTGCTCTGGGTAGCTG	0.299000													17	84					0	0	0.146539	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549468	58549468	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:58549468C>A	ENST00000282326.1	+	3	511	c.264C>A	c.(262-264)ggC>ggA	p.G88G	ZSCAN1_ENST00000391700.1_Silent_p.G88G|ZSCAN1_ENST00000601162.1_Silent_p.G88G	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	88	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGTTCCTGGGCGCGCTGCCCA	0.697000													6	9					0.0215528	0.0224476	0.021553	1	0
AFAP1L1	134265	broad.mit.edu	37	5	148695817	148695817	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:148695817G>T	ENST00000296721.4	+	11	1316	c.1218G>T	c.(1216-1218)ctG>ctT	p.L406L	AFAP1L1_ENST00000515000.1_Silent_p.L406L	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	406							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGACACTGGCCGATGACC	0.622000													3	49					0.115264	0.11754	0.115264	1	0
DNAH8	1769	broad.mit.edu	37	6	38795996	38795996	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:38795996G>T	ENST00000359357.3	+	28	3723	c.3469G>T	c.(3469-3471)Gta>Tta	p.V1157L	DNAH8_ENST00000441566.1_Missense_Mutation_p.V1157L|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1374L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAAGTTGAAGTAACCAAAGA	0.338000													14	113					1.49906e-05	1.68524e-05	0.119110	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140718825	140718825	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:140718825G>T	ENST00000394576.2	+	1	287	c.287G>T	c.(286-288)tGc>tTc	p.C96F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAGCTCTGCGCTCAGAGC	0.493000													16	41					1.5739e-10	2.08115e-10	0.146539	1	0
TRPA1	8989	broad.mit.edu	37	8	72984040	72984040	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:72984040T>A	ENST00000262209.4	-	2	381	c.174A>T	c.(172-174)agA>agT	p.R58S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	58			R -> T (in dbSNP:rs16937976).			integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TATCGTCACATCTTTTTAATT	0.363000													47	32					0	0	0.131918	0	0
GADL1	339896	broad.mit.edu	37	3	30885886	30885886	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:30885886C>A	ENST00000454381.3	-	7	770	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	GADL1_ENST00000282538.5_Missense_Mutation_p.D242Y			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	242					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.D58H(1)|p.D242H(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TACCTTCCATCTGTTTCCACA	0.413000													89	151					1.16068e-44	1.92279e-44	0.139131	1	0
MROH1	727957	broad.mit.edu	37	8	145246731	145246731	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:145246731G>T	ENST00000528919.1	+	8	949	c.828G>T	c.(826-828)aaG>aaT	p.K276N	MROH1_ENST00000398656.4_Missense_Mutation_p.K276N|MROH1_ENST00000326134.5_Missense_Mutation_p.K276N|MROH1_ENST00000534366.1_Missense_Mutation_p.K276N|MROH1_ENST00000423230.2_Missense_Mutation_p.K276N	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		TCTACAAGAAGCACGCAGAGA	0.617000													4	53					0.014758	0.015389	0.014758	1	0
C1orf116	79098	broad.mit.edu	37	1	207196408	207196408	+	Translation_Start_Site	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:207196408G>C	ENST00000461135.2	-	0	773				C1orf116_ENST00000359470.5_Missense_Mutation_p.S234C	NM_001083924.1	NP_001077393.1	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116							cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CTGGGAGCTGGATGGTGTGTG	0.602000													42	197					0	0	0.139131	0	0
FAM73A	374986	broad.mit.edu	37	1	78326966	78326966	+	Missense_Mutation	SNP	G	G	A	rs146380219		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:78326966G>A	ENST00000370791.3	+	12	1365	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	FAM73A_ENST00000443751.2_Missense_Mutation_p.D407N	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	445						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGAGCAGACCGATCACTGGGG	0.294000													39	65					0	0	0.139131	0	0
HCFC1	3054	broad.mit.edu	37	X	153227707	153227707	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:153227707G>A	ENST00000310441.7	-	5	1729	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Missense_Mutation_p.R255C|HCFC1_ENST00000354233.3_Missense_Mutation_p.R255C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	255					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGACTGCGAGGAAGAGGC	0.597000													4	12					0	0	0.009096	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410772	105410772	+	Silent	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:105410772C>G	ENST00000333244.5	-	7	11135	c.11016G>C	c.(11014-11016)gtG>gtC	p.V3672V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3672						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGGAGACTCACATCGGCTT	0.587000													45	155					0	0	0.139131	0	0
OR51B2	79345	broad.mit.edu	37	11	5344734	5344734	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:5344734T>G	ENST00000328813.2	-	1	848	c.794A>C	c.(793-795)aAt>aCt	p.N265T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGGCACATTCTTCCCAAA	0.393000													28	62					0	0	0.134883	0	0
AF015720.3	0	broad.mit.edu	37	21	37093044	37093044	+	RNA	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr21:37093044C>A	ENST00000412240.1	-	0	40				MIR802_ENST00000390235.1_RNA																							AACAAAGATTCATCCTTGTGT	0.443000													14	48					4.14922e-12	5.69221e-12	0.146539	1	0
OR5AN1	390195	broad.mit.edu	37	11	59132662	59132662	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:59132662C>T	ENST00000313940.2	+	1	778	c.731C>T	c.(730-732)tCt>tTt	p.S244F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ACCTGTGCTTCTCATCTAACA	0.423000													42	178					0	0	0.104719	0	0
CENPF	1063	broad.mit.edu	37	1	214816222	214816222	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:214816222G>T	ENST00000366955.3	+	12	4709	c.4541G>T	c.(4540-4542)gGg>gTg	p.G1514V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1610	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AATTTAGAAGGGGCTGTTTCA	0.473000													12	59					2.27111e-07	2.71667e-07	0.093190	1	0
UNC5B	219699	broad.mit.edu	37	10	73044574	73044574	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:73044574C>T	ENST00000335350.6	+	3	818	c.402C>T	c.(400-402)agC>agT	p.S134S	UNC5B_ENST00000373192.4_Silent_p.S134S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	134	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGGCCTGGAGCTCCGCGGGCA	0.677000													13	45					0	0	0.119110	0	0
SCG2	7857	broad.mit.edu	37	2	224463151	224463151	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:224463151G>A	ENST00000305409.2	-	2	1082	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	284					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGCCCTGAGCGTTTCATCTCA	0.413000													107	81					0	0	0.139131	0	0
TRPC6	7225	broad.mit.edu	37	11	101342064	101342064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:101342064G>T	ENST00000344327.3	-	9	2683	c.2259C>A	c.(2257-2259)taC>taA	p.Y753*	TRPC6_ENST00000360497.4_Nonsense_Mutation_p.Y698*|TRPC6_ENST00000532133.1_Nonsense_Mutation_p.Y675*|TRPC6_ENST00000348423.4_Nonsense_Mutation_p.Y637*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	753					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTCCTCAAAGTAGGAAAACC	0.428000													20	68					9.62636e-23	1.50928e-22	0.069288	1	0
MYH6	4624	broad.mit.edu	37	14	23855254	23855254	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:23855254C>A	ENST00000405093.3	-	34	5116	c.5046G>T	c.(5044-5046)ctG>ctT	p.L1682L	MYH6_ENST00000356287.3_Silent_p.L1682L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1682					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAGCCTGCAGCAGGTTGTTGC	0.647000													3	46					0.115264	0.11754	0.115264	1	0
CHD6	84181	broad.mit.edu	37	20	40033243	40033243	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:40033243T>A	ENST00000373233.3	-	37	8315	c.8138A>T	c.(8137-8139)gAc>gTc	p.D2713V	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2713					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTAATTGGTGTCGTTGTTGGA	0.468000													13	161					0	0	0.146539	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208795666	208795666	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:208795666C>G	ENST00000457206.1	-	5	2297	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.E624Q|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.E624Q			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	624					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGGAGATCCTCTGCCACCGCT	0.617000													13	48					0	0	0.105934	0	0
CASC5	57082	broad.mit.edu	37	15	40920853	40920853	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:40920853A>G	ENST00000346991.5	+	13	6028	c.5638A>G	c.(5638-5640)Att>Gtt	p.I1880V	CASC5_ENST00000399668.2_Missense_Mutation_p.I1854V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1880	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAGAGATACTATTTGTGAAGA	0.318000													19	88					0	0	0.069288	0	0
PPP1R18	170954	broad.mit.edu	37	6	30647008	30647008	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:30647008C>A	ENST00000274853.3	-	2	3646	c.1770G>T	c.(1768-1770)ctG>ctT	p.L590L	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Silent_p.L590L	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	590						cytoplasm|cytoskeleton	actin binding										GCTGCAGCAGCAGCAGCTCTT	0.697000													10	39					1.11149e-13	1.57911e-13	0.069234	1	0
NEB	4703	broad.mit.edu	37	2	152362721	152362721	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:152362721C>T	ENST00000397345.3	-	164	23810	c.23608G>A	c.(23608-23610)Gag>Aag	p.E7870K	NEB_ENST00000603639.1_Missense_Mutation_p.E7870K|NEB_ENST00000409198.1_Missense_Mutation_p.E6169K|NEB_ENST00000172853.10_Missense_Mutation_p.E6169K|NEB_ENST00000509223.2_5'UTR|NEB_ENST00000427231.2_Missense_Mutation_p.E7870K|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000604864.1_Missense_Mutation_p.E7870K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6169					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCATCATCTCAGGTGTCTTT	0.413000													35	120					0	0	0.117977	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616302	13616302	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:13616302T>A	ENST00000040738.5	-	4	827	c.692A>T	c.(691-693)gAg>gTg	p.E231V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	231							DNA binding										TGACGCTCTCTCACTGGTCTT	0.423000													15	31					0	0	0.146539	0	0
KIDINS220	57498	broad.mit.edu	37	2	8891668	8891668	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:8891668C>A	ENST00000256707.3	-	23	3299	c.3118G>T	c.(3118-3120)Gtg>Ttg	p.V1040L	KIDINS220_ENST00000473731.1_Missense_Mutation_p.V1040L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.V998L|KIDINS220_ENST00000427284.1_Missense_Mutation_p.V1040L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1040					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCGAGCCACAAGAACTGGG	0.353000													16	106					3.52763e-06	4.09691e-06	0.033300	1	0
MRPL38	64978	broad.mit.edu	37	17	73900723	73900723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:73900723C>A	ENST00000309352.3	-	2	682	c.145G>T	c.(145-147)Gag>Tag	p.E49*	MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	49						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGTACTTCTCCAGCCGCTCC	0.667000													6	6					2.0095e-06	2.3619e-06	0.029380	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720216	140720216	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:140720216C>A	ENST00000394576.2	+	1	1678	c.1678C>A	c.(1678-1680)Ccc>Acc	p.P560T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAACGCGCCCGAGATCCT	0.622000													29	77					0.000184323	0.000202042	0.125774	1	0
ANK2	287	broad.mit.edu	37	4	114294602	114294602	+	Silent	SNP	A	A	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:114294602A>C	ENST00000357077.4	+	45	11909	c.11856A>C	c.(11854-11856)tcA>tcC	p.S3952S	ANK2_ENST00000394537.3_Silent_p.S1867S|ANK2_ENST00000510275.2_Silent_p.S550S|ANK2_ENST00000506722.1_Silent_p.S1858S|ANK2_ENST00000264366.6_Silent_p.S3919S|ANK2_ENST00000509550.1_Silent_p.S1043S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3919					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGAGCAGTCAGAGGTGAGAC	0.428000													14	68					0	0	0.038395	0	0
ZNF100	163227	broad.mit.edu	37	19	21909963	21909963	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:21909963C>A	ENST00000358296.6	-	5	1349	c.1151G>T	c.(1150-1152)cGa>cTa	p.R384L	ZNF100_ENST00000305570.6_Missense_Mutation_p.R320L	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTATGAGAATCGGTAAAAAGC	0.408000													11	76					5.16669e-11	6.94694e-11	0.080935	1	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781910	20781910	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:20781910G>A	ENST00000398169.3	-	6	964	c.348C>T	c.(346-348)ggC>ggT	p.G116G	CCNB1IP1_ENST00000353689.4_Silent_p.G116G|CCNB1IP1_ENST00000398160.2_Silent_p.G116G|CCNB1IP1_ENST00000398163.2_Silent_p.G116G|CCNB1IP1_ENST00000358932.4_Silent_p.G116G|CCNB1IP1_ENST00000437553.2_Silent_p.G116G			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	116						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GTTTCAGATGGCCCTCAGCCT	0.378000			T	HMGA2	leiomyoma								17	68					0	0	0.033300	0	0
UST	10090	broad.mit.edu	37	6	149395197	149395197	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:149395197T>A	ENST00000367463.4	+	8	1269	c.1166T>A	c.(1165-1167)aTc>aAc	p.I389N	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	389					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GAGGAGCCAATCGACGATGAA	0.483000													20	25					0	0	0.055883	0	0
VPS51	738	broad.mit.edu	37	11	64877999	64877999	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:64877999G>T	ENST00000279281.3	+	8	2016	c.1924G>T	c.(1924-1926)Gac>Tac	p.D642Y	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		CCAGAGCAGCGACTCCAGCAA	0.632000											OREG0021071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	153					1.87028e-06	2.20417e-06	0.062417	1	0
PTK7	5754	broad.mit.edu	37	6	43096737	43096737	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:43096737C>A	ENST00000230419.4	+	2	323	c.102C>A	c.(100-102)ttC>ttA	p.F34L	PTK7_ENST00000352931.2_Missense_Mutation_p.F34L|PTK7_ENST00000349241.2_Missense_Mutation_p.F34L|PTK7_ENST00000481273.1_Missense_Mutation_p.F42L|PTK7_ENST00000471863.1_Missense_Mutation_p.F34L|PTK7_ENST00000345201.2_Missense_Mutation_p.F34L|PTK7_ENST00000476760.1_Missense_Mutation_p.F34L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	34	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCATTGTCTTCATCAAGCAGC	0.627000													6	61					5.18039e-06	5.98472e-06	0.038147	1	0
CBL	867	broad.mit.edu	37	11	119149229	119149229	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:119149229G>C	ENST00000264033.4	+	9	1613	c.1237G>C	c.(1237-1239)Ggt>Cgt	p.G413R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	413	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.G397_I429del(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAATCAGAAGGTCAGGGCTG	0.403000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				31	95					0	0	0.069456	0	0
VN1R1	57191	broad.mit.edu	37	19	57967675	57967675	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:57967675G>T	ENST00000321039.3	-	1	179	c.180C>A	c.(178-180)atC>atA	p.I60I	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	60					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AATTTCCCAGGATCCCAACTC	0.413000													25	41					4.43304e-23	6.9878e-23	0.116897	1	0
KIF21B	23046	broad.mit.edu	37	1	200969556	200969556	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:200969556C>T	ENST00000332129.2	-	11	1963	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	KIF21B_ENST00000360529.5_Silent_p.E549E|KIF21B_ENST00000422435.2_Silent_p.E549E|KIF21B_ENST00000461742.2_Silent_p.E549E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	549					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTTTAGCCGCTCCAGGTCCT	0.687000													20	174					0	0	0.083992	0	0
RUFY2	55680	broad.mit.edu	37	10	70154102	70154102	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:70154102C>T	ENST00000388768.2	-	5	936	c.610G>A	c.(610-612)Gag>Aag	p.E204K	RUFY2_ENST00000399200.2_Missense_Mutation_p.E135K|RUFY2_ENST00000602465.1_Missense_Mutation_p.E169K|RUFY2_ENST00000454950.2_Missense_Mutation_p.E111K|RUFY2_ENST00000342616.4_Missense_Mutation_p.E169K|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	218	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCTAAATCCTCTCCCTTCACA	0.428000													9	43					0	0	0.119110	0	0
RNF133	168433	broad.mit.edu	37	7	122338253	122338253	+	Silent	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:122338253T>A	ENST00000340112.2	-	1	957	c.720A>T	c.(718-720)cgA>cgT	p.R240R	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	240						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CTTTTACTACTCGAAGTTGGA	0.388000													54	185					0	0	0.139131	0	0
NMT1	4836	broad.mit.edu	37	17	43159018	43159018	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:43159018G>C	ENST00000592782.1	+	3	269	c.138G>C	c.(136-138)ttG>ttC	p.L46F	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.L46F			P30419	NMT1_HUMAN	N-myristoyltransferase 1	46					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				ACAGTGGTTTGAGTCCAGCCA	0.403000													9	48					0	0	0.047766	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161455	42161455	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:42161455G>T	ENST00000444063.1	+	9	1189	c.1057G>T	c.(1057-1059)Gct>Tct	p.A353S	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A421S|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.A421S|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A353S|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A353S			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	353					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GAAGCTGGAGGCTGTTGACCG	0.597000													38	85					1.52319e-26	2.44043e-26	0.104719	1	0
TMEM74	157753	broad.mit.edu	37	8	109797065	109797065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:109797065G>C	ENST00000297459.3	-	2	441	c.263C>G	c.(262-264)tCa>tGa	p.S88*	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	88					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GTTGTTCCCTGAGTGGAGAAG	0.463000													38	89					0	0	0.098360	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501478	220501478	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:220501478C>A	ENST00000358055.3	+	16	2929	c.2417C>A	c.(2416-2418)gCc>gAc	p.A806D	SLC4A3_ENST00000373762.3_Missense_Mutation_p.A833D|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A806D|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A806D|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A833D			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	806	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCGTCCTTGCCCTGGTGGCC	0.597000													23	73					3.83957e-06	4.45329e-06	0.076483	1	0
NXF5	55998	broad.mit.edu	37	X	101092807	101092807	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:101092807T>C	ENST00000537026.1	-	14	1225	c.866A>G	c.(865-867)aAc>aGc	p.N289S	NXF5_ENST00000473265.2_Missense_Mutation_p.N289S|NXF5_ENST00000361708.2_Missense_Mutation_p.N289S	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	289	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTTGCACAAGTTGCTCCTAGG	0.512000													35	65					0	0	0.069456	0	0
CCDC147	159686	broad.mit.edu	37	10	106207541	106207541	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:106207541G>T	ENST00000369704.3	+	16	2476	c.2342G>T	c.(2341-2343)cGa>cTa	p.R781L		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	781										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAGCTGTACCGACGCACGCTG	0.572000													22	36					3.62473e-10	4.70091e-10	0.062417	1	0
SLC6A5	9152	broad.mit.edu	37	11	20676399	20676399	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:20676399G>T	ENST00000525748.1	+	16	2652	c.2379G>T	c.(2377-2379)ctG>ctT	p.L793L	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	793					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTTGGAACTGGGCACTCAGT	0.507000													76	47					4.066e-59	6.78697e-59	0.139131	1	0
C20orf26	26074	broad.mit.edu	37	20	20226811	20226811	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:20226811C>A	ENST00000245957.5	+	19	2187	c.2111C>A	c.(2110-2112)cCa>cAa	p.P704Q	C20orf26_ENST00000377309.2_Missense_Mutation_p.P60Q|C20orf26_ENST00000389656.3_Missense_Mutation_p.P60Q|C20orf26_ENST00000377293.1_Missense_Mutation_p.P60Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	704										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATGGACTCCCAGGAAAAAAA	0.353000													23	95					9.57634e-11	1.27588e-10	0.083992	1	0
LY75	4065	broad.mit.edu	37	2	160692136	160692136	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:160692136C>A	ENST00000263636.4	-	26	3555	c.3528G>T	c.(3526-3528)tgG>tgT	p.W1176C	LY75_ENST00000553424.1_Missense_Mutation_p.W1176C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.W1176C|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.W1176C|LY75_ENST00000554112.1_Missense_Mutation_p.W1176C	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TCCCATCTGACCAACCAAAGT	0.408000													17	50					2.37509e-13	3.34724e-13	0.055883	1	0
CDH26	60437	broad.mit.edu	37	20	58564177	58564177	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:58564177G>T	ENST00000348616.4	+	9	1542	c.1242G>T	c.(1240-1242)ctG>ctT	p.L414L	CDH26_ENST00000244047.5_Silent_p.L414L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	414	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CTGGGACCCTGTTGGGAACTT	0.532000													50	314					4.17463e-26	6.67636e-26	0.139131	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092251	151092251	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:151092251G>T	ENST00000370335.1	+	3	382	c.115G>T	c.(115-117)Gct>Tct	p.A39S	MAGEA4_ENST00000360243.2_Missense_Mutation_p.A39S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.A39S|MAGEA4_ENST00000370340.3_Missense_Mutation_p.A39S|MAGEA4_ENST00000276344.2_Missense_Mutation_p.A39S|MAGEA4_ENST00000393920.1_Missense_Mutation_p.A39S|MAGEA4_ENST00000393921.1_Missense_Mutation_p.A39S			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	39							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGAGGCTGCTGTCTCCTC	0.632000													30	9					1.75199e-13	2.47306e-13	0.125774	1	0
CENPJ	55835	broad.mit.edu	37	13	25458536	25458536	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:25458536C>T	ENST00000381884.4	-	14	3728	c.3543G>A	c.(3541-3543)gtG>gtA	p.V1181V	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1181					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CATCTGCACTCACTTCCTTTC	0.428000													26	47					0	0	0.099896	0	0
FAM9B	171483	broad.mit.edu	37	X	8998402	8998402	+	Splice_Site	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:8998402C>A	ENST00000327220.5	-	5	546		c.e5-1		FAM9B_ENST00000362066.3_Intron|FAM9B_ENST00000428477.1_Splice_Site			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B							nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GTAAGATCCTCTTTAATGTCA	0.289000													6	5					3.59834e-05	4.02977e-05	0.021553	1	0
TPTE	7179	broad.mit.edu	37	21	10944717	10944717	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr21:10944717C>T	ENST00000298232.7	-	10	830	c.463G>A	c.(463-465)Gat>Aat	p.D155N	TPTE_ENST00000342420.5_Missense_Mutation_p.D135N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D173N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	173					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAAACGACATCAACCAGCAGA	0.284000													15	141					0	0	0.119110	0	0
DNAH2	146754	broad.mit.edu	37	17	7720664	7720664	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:7720664C>G	ENST00000572933.1	+	65	11411	c.9951C>G	c.(9949-9951)ttC>ttG	p.F3317L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F3317L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3317					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGCTGCCTTCCTGTCCTACA	0.612000													8	55					0	0	0.047766	0	0
LY9	4063	broad.mit.edu	37	1	160786534	160786534	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:160786534G>A	ENST00000263285.5	+	5	1253	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E	LY9_ENST00000368035.1_Missense_Mutation_p.G60E|LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.G60E	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	408	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGTCCCAAGGGGAATCACAC	0.552000													11	65					0	0	0.069234	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252185	26252185	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:26252185C>G	ENST00000356350.2	+	1	307	c.307C>G	c.(307-309)Ctg>Gtg	p.L103V		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	103					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GCGCCTGCTGCTGCCTGGGGA	0.597000													21	56					0	0	0.055883	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134711	81134711	+	RNA	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:81134711G>T	ENST00000533478.1	-	0	5451				PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAGATGGTGGCGTGTGGACG	0.572000													17	29					1.15919e-05	1.31325e-05	0.049695	1	0
OR2T8	343172	broad.mit.edu	37	1	248084564	248084564	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:248084564A>G	ENST00000319968.4	+	1	245	c.245A>G	c.(244-246)gAc>gGc	p.D82G		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGGCGGCTGACTACTTGACC	0.592000													25	32					0	0	0.050027	0	0
HLA-G	3135	broad.mit.edu	37	6	29797338	29797338	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:29797338G>T	ENST00000428701.1	+	5	941	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.V255L|HLA-G_ENST00000376828.2_Missense_Mutation_p.V260L|HLA-G_ENST00000376818.3_Missense_Mutation_p.V163L	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	255	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CGTGGAGCTCGTGGAGACCAG	0.627000													38	70					3.09479e-21	4.79228e-21	0.092188	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260505	30260505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:30260505G>T	ENST00000378982.2	+	1	449	c.253G>T	c.(253-255)Gag>Tag	p.E85*		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	85										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TAAAGGCGACGAGAGCCAAGA	0.517000													3	6					0.00024832	0.000271175	0.009096	1	0
FH	2271	broad.mit.edu	37	1	241665814	241665814	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:241665814C>A	ENST00000366560.3	-	8	1203	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	389					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACATGGTTCCCCATGACTTGG	0.413000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				10	106					3.86212e-05	4.30869e-05	0.069234	1	0
DNAH5	1767	broad.mit.edu	37	5	13793720	13793720	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:13793720C>A	ENST00000265104.4	-	49	8232	c.8128G>T	c.(8128-8130)Ggt>Tgt	p.G2710C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2710	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGTCCACCACCAGGATGGATC	0.468000									Kartagener syndrome				23	173					0.000229342	0.000251075	0.062417	1	0
SPEN	23013	broad.mit.edu	37	1	16255239	16255239	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:16255239C>G	ENST00000375759.3	+	11	2708	c.2504C>G	c.(2503-2505)tCt>tGt	p.S835C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	835					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGTTCTCAGTCTTCAGAAACG	0.458000													14	52					0	0	0.119110	0	0
HERC1	8925	broad.mit.edu	37	15	64067101	64067101	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:64067101G>A	ENST00000443617.2	-	2	809	c.722C>T	c.(721-723)aCt>aTt	p.T241I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	241					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACGACCTAAAGTGTCTGCCCC	0.438000													20	76					0	0	0.049695	0	0
KCNK6	9424	broad.mit.edu	37	19	38817495	38817495	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:38817495C>A	ENST00000263372.3	+	2	692	c.585C>A	c.(583-585)ctC>ctA	p.L195L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	195						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	TTGCCCACCTCGAGGAGGCCT	0.657000													89	166					4.00701e-44	6.62553e-44	0.139131	1	0
USP2	9099	broad.mit.edu	37	11	119244128	119244128	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:119244128G>C	ENST00000260187.2	-	2	357	c.63C>G	c.(61-63)caC>caG	p.H21Q	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	21	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ACTTGGCATAGTGGGCATCTG	0.592000													7	20					0	0	0.038147	0	0
GPSM1	26086	broad.mit.edu	37	9	139228913	139228913	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:139228913G>A	ENST00000440944.1	+	2	298	c.78G>A	c.(76-78)gcG>gcA	p.A26A	GPSM1_ENST00000392945.3_Silent_p.A26A	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	26	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGATGGAGGCGTCCTGCCTAG	0.672000													9	18					0	0	0.069234	0	0
RBM19	9904	broad.mit.edu	37	12	114400144	114400144	+	Missense_Mutation	SNP	C	C	T	rs140564219		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:114400144C>T	ENST00000545145.2	-	2	190	c.112G>A	c.(112-114)Gat>Aat	p.D38N	RBM19_ENST00000261741.5_Missense_Mutation_p.D38N|RBM19_ENST00000392561.3_Missense_Mutation_p.D38N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	38	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AACTTGCCATCTTTGGTGAAC	0.517000													12	46					0	0	0.093190	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930995	133930995	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:133930995G>T	ENST00000298622.4	+	2	688	c.550G>T	c.(550-552)Gca>Tca	p.A184S		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GATCAAGGCCGCAGAGATCCG	0.622000													3	19					0.115264	0.11754	0.115264	1	0
LOC442028	442028	broad.mit.edu	37	2	95552735	95552735	+	RNA	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:95552735C>A	ENST00000568768.1	-	0	476																											TGCAAACACACCATCCAACAC	0.393000													17	23					8.00594e-06	9.15262e-06	0.043863	1	0
NAV2	89797	broad.mit.edu	37	11	20065812	20065812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:20065812G>T	ENST00000396085.1	+	13	3554	c.3193G>T	c.(3193-3195)Gga>Tga	p.G1065*	NAV2_ENST00000540292.1_Nonsense_Mutation_p.G1019*|NAV2_ENST00000533917.1_Nonsense_Mutation_p.G151*|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Nonsense_Mutation_p.G1065*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.G1017*|NAV2_ENST00000360655.4_Nonsense_Mutation_p.G1001*|NAV2_ENST00000311043.8_Nonsense_Mutation_p.G151*|NAV2_ENST00000396087.3_Nonsense_Mutation_p.G1088*	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1088						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAGACCCCAGGAACTGGTAA	0.537000													15	18					6.72482e-11	8.97324e-11	0.132662	1	0
GBA3	57733	broad.mit.edu	37	4	22729429	22729429	+	RNA	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:22729429C>G	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTATATGGTTCTCCACCAATC	0.383000													12	148					0	0	0.093190	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291383	141291383	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:141291383G>T	ENST00000247452.3	-	3	738	c.391C>A	c.(391-393)Cca>Aca	p.P131T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	131						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCACTGTCTGGCAGGCCCTGA	0.522000										HNSCC(46;0.14)			65	43					2.02627e-32	3.29457e-32	0.139131	1	0
CLDN10	9071	broad.mit.edu	37	13	96205054	96205054	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:96205054C>T	ENST00000299339.2	+	1	76	c.47C>T	c.(46-48)tCa>tTa	p.S16L	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	16					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GTCTCCATCTCAGGCTGGGTA	0.652000													5	8					0	0	0.014758	0	0
MYH14	79784	broad.mit.edu	37	19	50781447	50781447	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:50781447G>A	ENST00000440075.2	+	30	3980	c.3933G>A	c.(3931-3933)cgG>cgA	p.R1311R	MYH14_ENST00000376970.2_Silent_p.R1303R|MYH14_ENST00000425460.1_Silent_p.R1278R|MYH14_ENST00000598205.1_Silent_p.R1278R|MYH14_ENST00000596571.1_Silent_p.R1270R|MYH14_ENST00000262269.8_Silent_p.R1311R|MYH14_ENST00000601313.1_Silent_p.R1311R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1270					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTGAGCAGCGGAGGCGCCGCC	0.692000													4	8					0	0	0.009096	0	0
HDAC9	9734	broad.mit.edu	37	7	18687408	18687408	+	Splice_Site	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:18687408G>C	ENST00000406451.3	+	10	1177	c.1026_splice	c.e10-1	p.A343_splice	HDAC9_ENST00000405010.3_Splice_Site_p.A343_splice|HDAC9_ENST00000441542.2_Splice_Site_p.A346_splice|HDAC9_ENST00000432645.2_Splice_Site_p.A343_splice|HDAC9_ENST00000406072.1_Splice_Site_p.A330_splice|HDAC9_ENST00000428307.2_Splice_Site_p.A299_splice|HDAC9_ENST00000401921.1_Splice_Site_p.A302_splice|HDAC9_ENST00000456174.2_Splice_Site_p.A315_splice|HDAC9_ENST00000417496.2_Splice_Site_p.A341_splice|HDAC9_ENST00000524023.1_Splice_Site_p.A266_splice	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	343	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCAACACAGGCTTCGAATTC	0.463000													5	18					0	0	0.014758	0	0
MEP1A	4224	broad.mit.edu	37	6	46777206	46777206	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:46777206C>T	ENST00000230588.4	+	6	321	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	104	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGTTCCGTCTCAAGTCCTGTG	0.378000													31	131					0	0	0.134883	0	0
CCDC88A	55704	broad.mit.edu	37	2	55562250	55562250	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:55562250G>A	ENST00000436346.1	-	15	2548	c.1707C>T	c.(1705-1707)tcC>tcT	p.S569S	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.S569S|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.S569S|CCDC88A_ENST00000263630.8_Silent_p.S569S	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	569					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTGCCTTAAGGAAGACACTG	0.328000													10	51					0	0	0.093190	0	0
PJA2	9867	broad.mit.edu	37	5	108698662	108698662	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:108698662T>A	ENST00000361189.2	-	6	1770	c.1531A>T	c.(1531-1533)Agc>Tgc	p.S511C	PJA2_ENST00000361557.3_Missense_Mutation_p.S511C	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	511					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCACTGCTGCTTTCATTGACT	0.393000													25	112					0	0	0.116897	0	0
OR6N1	128372	broad.mit.edu	37	1	158735829	158735829	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:158735829A>C	ENST00000335094.2	-	1	663	c.644T>G	c.(643-645)cTc>cGc	p.L215R		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATAGGAGCAGAGGATCAGCAG	0.498000													16	135					0	0	0.132662	0	0
CELSR3	1951	broad.mit.edu	37	3	48696795	48696795	+	Silent	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:48696795T>G	ENST00000544264.1	-	1	3553	c.3273A>C	c.(3271-3273)gcA>gcC	p.A1091A	CELSR3_ENST00000164024.4_Silent_p.A1091A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1091	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGGTCCACTGCAGTGATCT	0.527000													14	48					0	0	0.105934	0	0
GRM7	2917	broad.mit.edu	37	3	6903136	6903136	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:6903136C>G	ENST00000486284.1	+	1	335	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V	GRM7_ENST00000389336.4_Missense_Mutation_p.L21V|GRM7_ENST00000402647.2_Missense_Mutation_p.L21V|GRM7_ENST00000357716.4_Missense_Mutation_p.L21V|GRM7_ENST00000403881.1_Missense_Mutation_p.L21V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	21					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTGCTGCGTGCTGGAGGTGCT	0.711000													5	7					0	0	0.021553	0	0
MYH2	4620	broad.mit.edu	37	17	10438476	10438476	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:10438476C>G	ENST00000245503.5	-	19	2478	c.2094G>C	c.(2092-2094)caG>caC	p.Q698H	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.Q698H|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	698	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACACCTCAGCTGGTGGAGGA	0.468000													7	46					0	0	0.038147	0	0
NPAP1	23742	broad.mit.edu	37	15	24923034	24923034	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:24923034C>G	ENST00000329468.2	+	1	2494	c.2020C>G	c.(2020-2022)Cct>Gct	p.P674A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCATCATTCCTCCTCCAGA	0.512000													31	102					0	0	0.054565	0	0
ADCY2	108	broad.mit.edu	37	5	7773180	7773180	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:7773180G>A	ENST00000338316.4	+	18	2439	c.2350G>A	c.(2350-2352)Gtc>Atc	p.V784I	ADCY2_ENST00000537121.1_Missense_Mutation_p.V604I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	784					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCACGCCCACGTCCTGGGCGA	0.527000													15	140					0	0	0.146539	0	0
LRP1B	53353	broad.mit.edu	37	2	141072548	141072548	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:141072548C>T	ENST00000389484.3	-	83	13732	c.12761G>A	c.(12760-12762)aGc>aAc	p.S4254N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4254	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGTAGTTGCTACAGTGGTT	0.373000										TSP Lung(27;0.18)			10	62					0	0	0.069234	0	0
PXDNL	137902	broad.mit.edu	37	8	52469440	52469440	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:52469440C>A	ENST00000356297.4	-	4	440	c.340G>T	c.(340-342)Gat>Tat	p.D114Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.D114Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	114					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTTTGCTTATCTAGTGCATGG	0.289000													16	27					9.16793e-09	1.14501e-08	0.033300	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430820	37430820	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:37430820T>A	ENST00000374660.1	+	7	926	c.827T>A	c.(826-828)gTg>gAg	p.V276E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V276E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.V276E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCATCCTTGGTGGAGGGAACA	0.473000													13	39					0	0	0.093190	0	0
STK32B	55351	broad.mit.edu	37	4	5448430	5448430	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:5448430G>C	ENST00000282908.5	+	7	1015	c.593G>C	c.(592-594)aGa>aCa	p.R198T	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.R121T|STK32B_ENST00000510398.1_Missense_Mutation_p.R151T	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	198	Protein kinase.		R -> G (in dbSNP:rs3733182).				ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TACATGGACAGAGGCCCCGGA	0.572000													7	31					0	0	0.047766	0	0
NPY	4852	broad.mit.edu	37	7	24329163	24329163	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:24329163G>T	ENST00000407573.1	+	4	524	c.234G>T	c.(232-234)ttG>ttT	p.L78F	NPY_ENST00000242152.2_Missense_Mutation_p.L78F|NPY_ENST00000405982.1_Missense_Mutation_p.L78F			P01303	NPY_HUMAN	neuropeptide Y	78					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CAGACCTCTTGATGAGAGAAA	0.438000													19	170					1.36565e-18	2.07446e-18	0.076483	1	0
PARP16	54956	broad.mit.edu	37	15	65563307	65563307	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:65563307T>A	ENST00000261888.6	-	2	723	c.278A>T	c.(277-279)aAg>aTg	p.K93M	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	93	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TGTCAGGACCTTTGAGGATAA	0.527000													74	201					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9069789	9069789	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:9069789C>G	ENST00000397910.4	-	3	17860	c.17657G>C	c.(17656-17658)tGg>tCg	p.W5886S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5888	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCCCTTCCCAGGAAGCTGT	0.517000													28	159					0	0	0.054565	0	0
CDH4	1002	broad.mit.edu	37	20	60504759	60504759	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:60504759C>G	ENST00000360469.5	+	13	2186	c.2098C>G	c.(2098-2100)Ctg>Gtg	p.L700V	CDH4_ENST00000543233.1_Missense_Mutation_p.L626V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	700	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AAACCCTCCCCTGTCCAACAC	0.592000													42	25					0	0	0.111260	0	0
ZNF226	7769	broad.mit.edu	37	19	44680611	44680611	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:44680611G>C	ENST00000590089.1	+	7	1563	c.1196G>C	c.(1195-1197)aGc>aCc	p.S399T	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S399T|ZNF226_ENST00000454662.2_Missense_Mutation_p.S399T			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TGTGGTAAGAGCTTCAGTCGG	0.478000													11	40					0	0	0.080935	0	0
POU3F2	5454	broad.mit.edu	37	6	99283695	99283695	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:99283695C>A	ENST00000328345.5	+	1	1116	c.946C>A	c.(946-948)Ctg>Atg	p.L316M		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	316	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGCCCTGCAGCTGAGCTTCAA	0.577000													69	95					4.67498e-28	7.51764e-28	0.139131	1	0
MYH6	4624	broad.mit.edu	37	14	23852437	23852437	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:23852437C>T	ENST00000405093.3	-	37	5728	c.5658G>A	c.(5656-5658)gaG>gaA	p.E1886E	MYH6_ENST00000356287.3_Silent_p.E1886E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1886					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AACTCACCGCCTCCTCGGCCT	0.522000													10	58					0	0	0.069234	0	0
ATP2B2	491	broad.mit.edu	37	3	10443872	10443872	+	Silent	SNP	G	G	T	rs139130148	byFrequency	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:10443872G>T	ENST00000397077.1	-	6	1133	c.558C>A	c.(556-558)atC>atA	p.I186I	ATP2B2_ENST00000360273.2_Silent_p.I186I|ATP2B2_ENST00000383800.4_Silent_p.I186I|ATP2B2_ENST00000343816.4_Silent_p.I186I|ATP2B2_ENST00000352432.4_Silent_p.I186I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	186					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTTCCTGCTCGATGCGGCTCT	0.572000													48	169					5.13769e-22	8.01224e-22	0.139131	1	0
RAPGEF5	9771	broad.mit.edu	37	7	22162065	22162065	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:22162065C>A	ENST00000344041.6	-	26	2464	c.2152G>T	c.(2152-2154)Gct>Tct	p.A718S	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.A568S	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	568					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCAAACAGAGCCTGCTGGCTG	0.502000													6	48					0.00116845	0.00125109	0.021553	1	0
USP25	29761	broad.mit.edu	37	21	17196427	17196427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr21:17196427G>T	ENST00000285681.2	+	11	1519	c.1150G>T	c.(1150-1152)Gga>Tga	p.G384*	USP25_ENST00000400183.2_Nonsense_Mutation_p.G384*|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Nonsense_Mutation_p.G384*			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	384					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCAGGCATTGGGAAGACCAGA	0.303000													14	34					1.5842e-08	1.95905e-08	0.105934	1	0
XIRP2	129446	broad.mit.edu	37	2	167760079	167760079	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:167760079G>T	ENST00000409195.1	+	2	176	c.87G>T	c.(85-87)agG>agT	p.R29S	XIRP2_ENST00000420519.1_Missense_Mutation_p.R29S|XIRP2_ENST00000409728.1_Missense_Mutation_p.R29S|XIRP2_ENST00000409756.2_Missense_Mutation_p.R29S|XIRP2_ENST00000409043.1_Missense_Mutation_p.R29S|XIRP2_ENST00000295237.9_Missense_Mutation_p.R29S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCATCCCAGGGACAGCCATT	0.498000													9	39					0.000442599	0.000479756	0.058154	1	0
APH1A	51107	broad.mit.edu	37	1	150240369	150240369	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:150240369T>C	ENST00000360244.4	-	2	764	c.272A>G	c.(271-273)tAc>tGc	p.Y91C	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.T46A|APH1A_ENST00000369109.3_Missense_Mutation_p.Y91C	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	91					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGCAGCTTGTAGTAGGCAAA	0.567000													21	210					0	0	0.049695	0	0
ADAM30	11085	broad.mit.edu	37	1	120438009	120438009	+	Silent	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:120438009A>G	ENST00000369400.1	-	1	1109	c.951T>C	c.(949-951)taT>taC	p.Y317Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	317	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTGATCCAGCATATTCTAGAG	0.413000													17	96					0	0	0.038395	0	0
TTN	7273	broad.mit.edu	37	2	179580395	179580395	+	Silent	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:179580395T>C	ENST00000589042.1	-	89	25970	c.25746A>G	c.(25744-25746)ttA>ttG	p.L8582L	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.L8265L|TTN_ENST00000342992.6_Silent_p.L7338L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8265	Ig-like 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTATACCATAAAACTTTGA	0.403000													8	14					0	0	0.038147	0	0
RYR2	6262	broad.mit.edu	37	1	237947703	237947703	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:237947703C>A	ENST00000366574.2	+	90	13008	c.12691C>A	c.(12691-12693)Ccg>Acg	p.P4231T	RYR2_ENST00000542537.1_Missense_Mutation_p.P4215T|RYR2_ENST00000360064.6_Missense_Mutation_p.P4237T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4231					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGCAGGGGCCGAGGATGGC	0.542000													11	32					4.68919e-08	5.72616e-08	0.069234	1	0
CCDC40	55036	broad.mit.edu	37	17	78032423	78032423	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:78032423C>G	ENST00000397545.4	+	8	1317	c.1290C>G	c.(1288-1290)atC>atG	p.I430M	CCDC40_ENST00000269318.5_Missense_Mutation_p.I430M|CCDC40_ENST00000374876.4_Missense_Mutation_p.I430M|CCDC40_ENST00000374877.3_Missense_Mutation_p.I430M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	430					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGGAGAGGATCCGGGCAGAAA	0.507000													4	23					0	0	0.014758	0	0
OR4M1	441670	broad.mit.edu	37	14	20249193	20249193	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:20249193G>T	ENST00000315957.4	+	1	793	c.712G>T	c.(712-714)Gcc>Tcc	p.A238S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACCAACAGGGCCATGTCCAC	0.453000													19	333					1.96292e-10	2.57615e-10	0.055883	1	0
PDGFRA	5156	broad.mit.edu	37	4	55153652	55153652	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:55153652C>A	ENST00000257290.5	+	19	2949	c.2618C>A	c.(2617-2619)aCc>aAc	p.T873N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.T633N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	873	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AACCTCTACACCACACTGAGT	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			23	76					1.66031e-10	2.1921e-10	0.091800	1	0
KSR2	283455	broad.mit.edu	37	12	117968784	117968784	+	Silent	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:117968784C>G	ENST00000425217.1	-	12	1731	c.1677G>C	c.(1675-1677)gcG>gcC	p.A559A	KSR2_ENST00000339824.5_Silent_p.A588A|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.A285A	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	588					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.A620A(1)|p.A285A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGACCTGGGGCGCCCGGGTCG	0.557000													55	70					0	0	0.139131	0	0
GPR85	54329	broad.mit.edu	37	7	112724005	112724005	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:112724005C>A	ENST00000501255.2	-	3	1395	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	GPR85_ENST00000449591.1_Missense_Mutation_p.G258C|GPR85_ENST00000297146.2_Missense_Mutation_p.G258C|GPR85_ENST00000424100.1_Missense_Mutation_p.G258C	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	258						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGCCTGATGCCCAGCAAGGTG	0.498000													49	116					1.10885e-35	1.82316e-35	0.139131	1	0
NLRP12	91662	broad.mit.edu	37	19	54313166	54313166	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:54313166C>A	ENST00000324134.6	-	3	1915	c.1747G>T	c.(1747-1749)Gtc>Ttc	p.V583F	NLRP12_ENST00000354278.3_Missense_Mutation_p.V583F|NLRP12_ENST00000535162.1_Missense_Mutation_p.V583F|NLRP12_ENST00000391772.1_Missense_Mutation_p.V583F|NLRP12_ENST00000345770.5_Missense_Mutation_p.V583F|NLRP12_ENST00000391775.3_Missense_Mutation_p.V583F|NLRP12_ENST00000391773.1_Missense_Mutation_p.V583F|NLRP12_ENST00000351894.4_Missense_Mutation_p.V583F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	583					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGCGGCGAGACCTTCCAGCAG	0.572000													32	24					8.88839e-20	1.37153e-19	0.045705	1	0
IKZF1	10320	broad.mit.edu	37	7	50450313	50450313	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:50450313T>A	ENST00000331340.3	+	5	652	c.497T>A	c.(496-498)cTg>cAg	p.L166Q	IKZF1_ENST00000357364.4_Missense_Mutation_p.L166Q|IKZF1_ENST00000343574.5_Missense_Mutation_p.L79Q|IKZF1_ENST00000359197.5_Missense_Mutation_p.L166Q|IKZF1_ENST00000438033.1_Missense_Mutation_p.L79Q|IKZF1_ENST00000440768.2_Missense_Mutation_p.L166Q|IKZF1_ENST00000439701.1_Missense_Mutation_p.L166Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	166					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACATCAAGCTGCATTCCGGG	0.637000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	23					0	0	0.029380	0	0
DPYS	1807	broad.mit.edu	37	8	105456599	105456599	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:105456599C>A	ENST00000351513.2	-	4	802	c.670G>T	c.(670-672)Gca>Tca	p.A224S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	224					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTCCACTGCCTCTGGGCGG	0.547000													25	20					7.07758e-08	8.57119e-08	0.099896	1	0
LCE3D	84648	broad.mit.edu	37	1	152552268	152552268	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:152552268C>T	ENST00000368787.3	-	2	201	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	49					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CAGCCGCCCTCGGAGCTAGGG	0.672000													14	105					0	0	0.119110	0	0
PRPF40B	25766	broad.mit.edu	37	12	50027765	50027765	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:50027765C>T	ENST00000261897.1	+	9	1169	c.618C>T	c.(616-618)ccC>ccT	p.P206P	PRPF40B_ENST00000380281.1_Silent_p.P212P|PRPF40B_ENST00000548825.2_Silent_p.P234P			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	212					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCCCAGTGCCCACAGGCCTCC	0.647000													22	87					0	0	0.055883	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406209	39406209	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:39406209C>A	ENST00000334109.2	+	1	271	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	79	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCAGCACACCCTGCTGCCAGC	0.622000													33	81					1.21669e-08	1.51741e-08	0.059317	1	0
AIM1	202	broad.mit.edu	37	6	106967352	106967352	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:106967352G>T	ENST00000369066.3	+	2	1532	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	349							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TACCGTCTCGGAAGAAGAGAT	0.438000													13	65					5.50884e-06	6.30607e-06	0.093190	1	0
MAGI2	9863	broad.mit.edu	37	7	79082556	79082556	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:79082556C>A	ENST00000354212.4	-	1	334	c.81G>T	c.(79-81)caG>caT	p.Q27H	MAGI2-AS3_ENST00000446159.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.Q27H|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q27H|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	27	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAAAGCCCAGCTGGCCCTCCG	0.582000													59	97					1.55088e-19	2.38055e-19	0.139131	1	0
CLPB	81570	broad.mit.edu	37	11	72145270	72145270	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:72145270G>A	ENST00000437826.2	-	1	156	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	CLPB_ENST00000538039.1_Silent_p.L83L|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000294053.3_Silent_p.L83L|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000445069.2_Intron			Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	0					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCAGCCGCGAGGCATTTGG	0.692000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	35					0	0	0.033300	0	0
CSMD1	64478	broad.mit.edu	37	8	2886840	2886840	+	Splice_Site	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:2886840C>A	ENST00000602557.1	-	52	8414		c.e52+1		CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCATCACTTACCTCGACAGCT	0.527000													3	15					0.00909568	0.00950715	0.009096	1	0
GUCA1C	9626	broad.mit.edu	37	3	108672525	108672525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:108672525C>A	ENST00000261047.3	-	1	217	c.85G>T	c.(85-87)Gaa>Taa	p.E29*	GUCA1C_ENST00000471108.1_Nonsense_Mutation_p.E29*|GUCA1C_ENST00000393963.3_Nonsense_Mutation_p.E29*	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	29	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GATGGATATTCCATCATAAAT	0.403000													46	85					2.56175e-15	3.76753e-15	0.139131	1	0
HTR3E	285242	broad.mit.edu	37	3	183818191	183818191	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:183818191C>A	ENST00000335304.2	+	1	225	c.31C>A	c.(31-33)Cca>Aca	p.P11T	HTR3E_ENST00000436361.2_Missense_Mutation_p.P11T|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000440596.2_Missense_Mutation_p.P11T|HTR3E_ENST00000415389.2_Intron	NM_182589.2|NM_198314.2	NP_872395.2|NP_938056.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	0						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.P11T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACGGGCGACCCCACGCCCTGC	0.483000													97	111					1.46924e-35	2.4112e-35	0.139131	1	0
DPYD	1806	broad.mit.edu	37	1	98015271	98015271	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:98015271T>A	ENST00000370192.3	-	12	1469	c.1369A>T	c.(1369-1371)Aac>Tac	p.N457Y		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	457					'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)	CCCCATCTGTTAAATTTTATA	0.363000													13	50					0	0	0.093190	0	0
HNF4A	3172	broad.mit.edu	37	20	43057097	43057097	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:43057097T>A	ENST00000316099.3	+	9	1341	c.1252T>A	c.(1252-1254)Tgt>Agt	p.C418S	HNF4A_ENST00000415691.1_Splice_Site_p.S418_splice|HNF4A_ENST00000457232.1_Splice_Site_p.S396_splice	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	418					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGACAGATGTGTGAGTGGCC	0.572000													5	34					0	0	0.014758	0	0
HEPHL1	341208	broad.mit.edu	37	11	93826774	93826774	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:93826774G>A	ENST00000315765.9	+	13	2410	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	801	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATCAAAGCCCGACCACCACGA	0.473000													18	45					0	0	0.043863	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611152	62611152	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:62611152G>A	ENST00000281156.4	-	5	886	c.608C>T	c.(607-609)tCa>tTa	p.S203L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.S203L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATGTACCTTGAAGGAGCTGT	0.403000													21	68					0	0	0.069288	0	0
PACS1	55690	broad.mit.edu	37	11	65998372	65998372	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:65998372C>T	ENST00000320580.4	+	13	1620	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	PACS1_ENST00000529757.1_Silent_p.S65S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	529					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S529S(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCAACAGTTCCGACAGCGAGC	0.622000													7	55					0	0	0.047766	0	0
THSD7A	221981	broad.mit.edu	37	7	11675948	11675948	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:11675948G>T	ENST00000423059.3	-	2	1082	c.831C>A	c.(829-831)cgC>cgA	p.R277R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	277						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TATTCTTCCCGCGTCTCCTTG	0.537000										HNSCC(18;0.044)			31	168					4.92203e-23	7.74469e-23	0.086207	1	0
ADRA1B	147	broad.mit.edu	37	5	159344182	159344182	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:159344182C>T	ENST00000306675.3	+	1	393	c.270C>T	c.(268-270)gcC>gcT	p.A90A		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	90					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	TGGCCATGGCCGACCTGCTGT	0.607000													25	62					0	0	0.125774	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233725	63233725	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:63233725C>T	ENST00000540857.1	-	5	706	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	HRASLS5_ENST00000301790.4_Missense_Mutation_p.G202R|HRASLS5_ENST00000539221.1_Missense_Mutation_p.G202R	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	202										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						AGGTACGTCCCATCTAGCTTG	0.502000													27	34					0	0	0.108266	0	0
GTPBP4	23560	broad.mit.edu	37	10	1038475	1038475	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:1038475C>A	ENST00000360803.4	+	2	177	c.95C>A	c.(94-96)aCc>aAc	p.T32N	GTPBP4_ENST00000545048.1_5'UTR|GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	32					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AAGACTCCAACCGTTATTCAT	0.328000													9	42					2.74318e-10	3.59479e-10	0.058154	1	0
BCAS3	54828	broad.mit.edu	37	17	59161843	59161843	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:59161843C>T	ENST00000589222.1	+	22	2411	c.2343C>T	c.(2341-2343)cgC>cgT	p.R781R	BCAS3_ENST00000407086.3_Silent_p.R781R|BCAS3_ENST00000408905.3_Silent_p.R781R|BCAS3_ENST00000585744.1_Silent_p.R567R|BCAS3_ENST00000588462.1_Silent_p.R796R|BCAS3_ENST00000588874.1_Silent_p.R552R|BCAS3_ENST00000390652.5_Silent_p.R796R			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	796						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGCCAGTCCGCTCTGACCCCG	0.473000													15	19					0	0	0.038395	0	0
ANO7	50636	broad.mit.edu	37	2	242162664	242162664	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:242162664C>T	ENST00000274979.8	+	22	2650	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	ANO7_ENST00000402430.3_Silent_p.I848I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	849						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TTCTTGCCATCCGCCTGGCCT	0.577000													35	125					0	0	0.092188	0	0
DNAH9	1770	broad.mit.edu	37	17	11543598	11543598	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:11543598G>T	ENST00000262442.3	+	10	1866	c.1798G>T	c.(1798-1800)Gtg>Ttg	p.V600L	DNAH9_ENST00000454412.2_Missense_Mutation_p.V600L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	600	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTCTCCCCGGTGCACAAGAA	0.597000													27	128					7.68411e-24	1.21781e-23	0.134883	1	0
HPN	3249	broad.mit.edu	37	19	35551066	35551066	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:35551066C>G	ENST00000262626.2	+	7	1272	c.447C>G	c.(445-447)atC>atG	p.I149M	HPN_ENST00000392226.1_Missense_Mutation_p.I149M|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	149	SRCR.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	TGGCCGCCATCTGCCAAGGTG	0.542000													18	107					0	0	0.049695	0	0
POU3F2	5454	broad.mit.edu	37	6	99283696	99283696	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:99283696T>A	ENST00000328345.5	+	1	1117	c.947T>A	c.(946-948)cTg>cAg	p.L316Q		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	316	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCCCTGCAGCTGAGCTTCAAG	0.572000													69	93					0	0	0.139131	0	0
NAT6	24142	broad.mit.edu	37	3	50334355	50334355	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:50334355C>A	ENST00000443842.1	-	2	1347	c.540G>T	c.(538-540)gtG>gtT	p.V180V	NAT6_ENST00000417393.1_Silent_p.V180V|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000354862.4_Silent_p.V202V|NAT6_ENST00000443094.2_Silent_p.V180V|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000450982.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TATAGAAGTGCACCTGGTCAT	0.652000													3	20					0.004672	0.00493624	0.115264	1	0
CPSF7	79869	broad.mit.edu	37	11	61196719	61196719	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:61196719G>T	ENST00000340437.4	-	2	198	c.118C>A	c.(118-120)Cct>Act	p.P40T	CPSF7_ENST00000439958.3_5'UTR|CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000541963.1_5'UTR	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	0					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GCTCCGGAAGGAAGATCGCGA	0.507000													36	127					1.69901e-12	2.34549e-12	0.080422	1	0
PEX11A	8800	broad.mit.edu	37	15	90226656	90226656	+	Silent	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:90226656T>A	ENST00000300056.3	-	3	845	c.696A>T	c.(694-696)gcA>gcT	p.A232A	PEX11A_ENST00000561257.1_Silent_p.A201A|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	232					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGATCATGCCTGCTATAGAGG	0.458000													154	155					0	0	0.139131	0	0
FOCAD	54914	broad.mit.edu	37	9	20715360	20715360	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:20715360A>G	ENST00000380249.1	+	4	372	c.8A>G	c.(7-9)gAt>gGt	p.D3G	FOCAD_ENST00000338382.6_Missense_Mutation_p.D3G	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	3						integral to membrane	binding										AAAATGTCAGATGATATCAGG	0.338000													17	37					0	0	0.049695	0	0
LPP	4026	broad.mit.edu	37	3	188327046	188327046	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:188327046A>G	ENST00000312675.4	+	6	773	c.527A>G	c.(526-528)aAg>aGg	p.K176R	LPP_ENST00000448637.1_Missense_Mutation_p.K176R|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.K176R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	176	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACAGCAACCAAGAAGTCTACA	0.567000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								94	109					0	0	0.139131	0	0
MCPH1	79648	broad.mit.edu	37	8	6302891	6302891	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:6302891G>C	ENST00000344683.5	+	8	1724	c.1648G>C	c.(1648-1650)Gaa>Caa	p.E550Q	MCPH1_ENST00000519480.1_Missense_Mutation_p.E550Q|MCPH1_ENST00000522905.1_Missense_Mutation_p.E502Q	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	550						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGGAAGCCTTGAAGAAATGAA	0.448000													20	54					0	0	0.049695	0	0
PML	5371	broad.mit.edu	37	15	74328155	74328155	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:74328155G>T	ENST00000268059.6	+	8	2449	c.2353G>T	c.(2353-2355)Gac>Tac	p.D785Y	PML_ENST00000435786.2_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Missense_Mutation_p.D737Y|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TCCCCCTGGGGACTCTGTCAG	0.607000			T	"""RARA, PAX5"""	"""APL, ALL"""								36	33					2.42023e-17	3.63242e-17	0.059317	1	0
KLHL4	56062	broad.mit.edu	37	X	86880730	86880730	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:86880730C>A	ENST00000373119.4	+	6	1403	c.1258C>A	c.(1258-1260)Cgg>Agg	p.R420R	KLHL4_ENST00000373114.4_Silent_p.R420R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	420						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAAAGCCCTCGGACAAAGCC	0.418000													22	30					8.10497e-08	9.7884e-08	0.055883	1	0
CNOT3	4849	broad.mit.edu	37	19	54647870	54647870	+	Splice_Site	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:54647870G>C	ENST00000406403.1	+	5	1990	c.387_splice	c.e5+1	p.T129_splice	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Splice_Site_p.T129_splice			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	129					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGTGGCTCACGGTGAGTTGGG	0.582000													5	16					0	0	0.014758	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376966	113376966	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:113376966T>A	ENST00000316407.4	-	7	3973	c.3563A>T	c.(3562-3564)cAg>cTg	p.Q1188L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q1188L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1188					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGCTTCTGCCTGTCCTGTGCC	0.428000													17	49					0	0	0.049695	0	0
KPRP	448834	broad.mit.edu	37	1	152732513	152732513	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:152732513T>G	ENST00000368773.1	+	2	507	c.449T>G	c.(448-450)gTc>gGc	p.V150G	KPRP_ENST00000606109.1_Missense_Mutation_p.V150G	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	150	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGCCCAGTCCAGAACTAT	0.517000													33	167					0	0	0.045705	0	0
HR	55806	broad.mit.edu	37	8	21986339	21986339	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:21986339G>C	ENST00000381418.4	-	2	1825	c.345C>G	c.(343-345)tgC>tgG	p.C115W	HR_ENST00000312841.8_Missense_Mutation_p.C115W	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	115							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)		AGCGAGGTGGGCACGCTGGCC	0.627000													5	8					0	0	0.014758	0	0
ABCB8	11194	broad.mit.edu	37	7	150738265	150738265	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:150738265G>T	ENST00000358849.4	+	13	1656	c.1563G>T	c.(1561-1563)ctG>ctT	p.L521L	ABCB8_ENST00000297504.6_Silent_p.L538L|ABCB8_ENST00000542328.1_Silent_p.L433L|ABCB8_ENST00000498578.1_Silent_p.L521L|ABCB8_ENST00000356058.4_3'UTR	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	538	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCGGGACCTGCGCACCCTTG	0.677000													12	37					2.80697e-09	3.58216e-09	0.080935	1	0
BLNK	29760	broad.mit.edu	37	10	97987199	97987199	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:97987199G>T	ENST00000224337.5	-	5	469	c.328C>A	c.(328-330)Cca>Aca	p.P110T	BLNK_ENST00000371176.2_Missense_Mutation_p.P110T|BLNK_ENST00000413476.2_Missense_Mutation_p.P110T|BLNK_ENST00000427367.2_Missense_Mutation_p.P110T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	110	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGCAGGGCTGGGTGAACCGGC	0.632000													15	51					2.31682e-05	2.59792e-05	0.132662	1	0
GPR174	84636	broad.mit.edu	37	X	78426917	78426917	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:78426917G>T	ENST00000276077.1	+	1	449	c.413G>T	c.(412-414)aGc>aTc	p.S138I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	138						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTGTACATCAGCATTGCTGGC	0.468000										HNSCC(63;0.18)			26	63					4.59853e-10	5.94626e-10	0.108266	1	0
SMC3	9126	broad.mit.edu	37	10	112362260	112362260	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:112362260A>T	ENST00000361804.4	+	26	3260	c.3134A>T	c.(3133-3135)cAg>cTg	p.Q1045L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1045					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GAAGTATTCCAGAAGTTAGTA	0.353000													14	40					0	0	0.033300	0	0
NIPBL	25836	broad.mit.edu	37	5	36976485	36976485	+	Silent	SNP	A	A	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:36976485A>C	ENST00000282516.8	+	9	1975	c.1476A>C	c.(1474-1476)tcA>tcC	p.S492S	NIPBL_ENST00000448238.2_Silent_p.S492S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	492					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGCGCTTCTCAAAAGAAGTTC	0.333000													5	104					0	0	0.014758	0	0
OR13F1	138805	broad.mit.edu	37	9	107266860	107266860	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:107266860C>A	ENST00000334726.2	+	1	406	c.317C>A	c.(316-318)gCc>gAc	p.A106D		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTCTCCCTTGCCATGGGCTCC	0.517000													13	28					7.03913e-09	8.87982e-09	0.093190	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182636	140182636	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:140182636G>A	ENST00000522353.2	+	1	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGGTGCGCGCATCCCGT	0.672000													10	30					0	0	0.069234	0	0
BRSK2	9024	broad.mit.edu	37	11	1464594	1464594	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:1464594C>A	ENST00000544817.1	+	0	141				BRSK2_ENST00000308219.9_Missense_Mutation_p.D198E|BRSK2_ENST00000531197.1_Missense_Mutation_p.D198E|BRSK2_ENST00000308230.5_Missense_Mutation_p.D198E|BRSK2_ENST00000382179.1_Missense_Mutation_p.D244E|BRSK2_ENST00000528710.1_Missense_Mutation_p.D138E|BRSK2_ENST00000528841.1_Missense_Mutation_p.D198E|BRSK2_ENST00000526678.1_Missense_Mutation_p.D198E			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2						establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGAAGGCGGACGTGTGGAGCT	0.711000													2	2					0.0784	0.0806978	0.115264	1	0
TAL1	6886	broad.mit.edu	37	1	47685431	47685431	+	Silent	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:47685431A>G	ENST00000371883.3	-	4	1539	c.963T>C	c.(961-963)ccT>ccC	p.P321P	TAL1_ENST00000371884.2_Silent_p.P319P|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Silent_p.P319P			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	319					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCAGCATGGCAGGATGGAGGC	0.697000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								12	36					0	0	0.105934	0	0
MYO10	4651	broad.mit.edu	37	5	16694689	16694689	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:16694689G>A	ENST00000513610.1	-	27	4045	c.3591C>T	c.(3589-3591)tgC>tgT	p.C1197C	MYO10_ENST00000274203.9_Silent_p.C554C|MYO10_ENST00000515803.1_Silent_p.C536C|MYO10_ENST00000427430.2_Silent_p.C554C|MYO10_ENST00000505695.1_Silent_p.C536C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1197					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTTGAGGACGCACCAGCGGC	0.552000													22	175					0	0	0.076483	0	0
LRP1B	53353	broad.mit.edu	37	2	141751644	141751644	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:141751644C>G	ENST00000389484.3	-	16	3535	c.2564G>C	c.(2563-2565)aGa>aCa	p.R855T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	855	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATACAGTGTCTGTTTTTGCA	0.433000										TSP Lung(27;0.18)			24	75					0	0	0.083992	0	0
PSMG2	56984	broad.mit.edu	37	18	12718551	12718551	+	Silent	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr18:12718551C>G	ENST00000317615.6	+	4	1006	c.324C>G	c.(322-324)tcC>tcG	p.S108S	PSMG2_ENST00000590217.1_Silent_p.S108S|RP11-973H7.2_ENST00000585331.1_RNA	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	108					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						AACTGCTTTCCTGGGTGAAAA	0.388000													10	50					0	0	0.058154	0	0
ARID5B	84159	broad.mit.edu	37	10	63810695	63810695	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:63810695G>T	ENST00000279873.7	+	5	1192	c.782G>T	c.(781-783)aGa>aTa	p.R261I	ARID5B_ENST00000309334.5_Missense_Mutation_p.R18I	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	261					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCCCACAAAGAAGAGATTCA	0.418000													19	72					1.00905e-13	1.43589e-13	0.049695	1	0
FAIM2	23017	broad.mit.edu	37	12	50291869	50291869	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:50291869G>A	ENST00000320634.3	-	3	310	c.216C>T	c.(214-216)agC>agT	p.S72S	FAIM2_ENST00000550890.1_Silent_p.S26S	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	72	Poly-Ser.				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						AGCTGGAGCTGCTGCCTGTGT	0.537000													4	53					0	0	0.014758	0	0
TLR1	7096	broad.mit.edu	37	4	38798776	38798776	+	Silent	SNP	C	C	A	rs5743616	byFrequency	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:38798776C>A	ENST00000308979.2	-	4	1950	c.1677G>T	c.(1675-1677)ccG>ccT	p.P559P	TLR1_ENST00000502213.2_Silent_p.P559P	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	559	LRRCT.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATAACTTTCCGGGTAGTCAC	0.428000													37	127					2.24893e-16	3.34672e-16	0.111260	1	0
ANXA3	306	broad.mit.edu	37	4	79516565	79516565	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:79516565G>A	ENST00000264908.6	+	8	893	c.514G>A	c.(514-516)Gag>Aag	p.E172K	ANXA3_ENST00000512884.1_Missense_Mutation_p.E133K|ANXA3_ENST00000503570.2_Missense_Mutation_p.E133K	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	172					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAAAGTGGATGAGCATCTGGC	0.423000													46	124					0	0	0.139131	0	0
LRRN3	54674	broad.mit.edu	37	7	110763423	110763423	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:110763423C>A	ENST00000451085.1	+	4	1641	c.595C>A	c.(595-597)Cca>Aca	p.P199T	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P199T|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P199T|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	199						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TGGGGAAAATCCAATTATCAG	0.373000													22	85					1.96292e-10	2.57615e-10	0.055883	1	0
NTNG1	22854	broad.mit.edu	37	1	107973434	107973434	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:107973434T>C	ENST00000370068.1	+	6	1996	c.1150T>C	c.(1150-1152)Tgc>Cgc	p.C384R	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.C384R|NTNG1_ENST00000370073.2_Missense_Mutation_p.C384R|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.C384R|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.C384R|NTNG1_ENST00000370067.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	384	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TACAGTCATTTGCGTGAGCTG	0.443000													9	26					0	0	0.047766	0	0
KIF23	9493	broad.mit.edu	37	15	69737240	69737240	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:69737240G>A	ENST00000260363.4	+	19	2608	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	KIF23_ENST00000558585.1_Missense_Mutation_p.E544K|KIF23_ENST00000352331.4_Missense_Mutation_p.E727K|KIF23_ENST00000559279.1_Missense_Mutation_p.E727K|KIF23_ENST00000395392.2_Missense_Mutation_p.E824K|KIF23_ENST00000537891.1_Missense_Mutation_p.E544K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	831					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CATGCAAACTGAAACAGTCAT	0.498000													20	46					0	0	0.069288	0	0
ZNF675	171392	broad.mit.edu	37	19	23836135	23836135	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:23836135T>A	ENST00000359788.4	-	4	1768	c.1600A>T	c.(1600-1602)Aaa>Taa	p.K534*	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	534					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTATAGGGTTTCTCTCCAGTA	0.353000													11	58					0	0	0.069234	0	0
PPP6C	5537	broad.mit.edu	37	9	127916001	127916001	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:127916001C>G	ENST00000451402.1	-	7	811	c.591G>C	c.(589-591)ttG>ttC	p.L197F	PPP6C_ENST00000415905.1_Missense_Mutation_p.L138F|PPP6C_ENST00000373547.4_Missense_Mutation_p.L160F|PPP6C_ENST00000373546.3_Missense_Mutation_p.L13F	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	160					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CATGGACACACAAAATCTGCT	0.353000													3	44					0	0	0.009096	0	0
KIRREL	55243	broad.mit.edu	37	1	158057874	158057874	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:158057874G>A	ENST00000368172.1	+	3	252	c.240G>A	c.(238-240)acG>acA	p.T80T	KIRREL_ENST00000416935.2_Silent_p.T182T|KIRREL_ENST00000359209.6_Silent_p.T282T|KIRREL_ENST00000392272.2_Silent_p.T179T|KIRREL_ENST00000368173.3_Silent_p.T282T|KIRREL_ENST00000360089.4_Silent_p.T118T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	282	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTTTTTCACGGAGCCTGTGT	0.517000											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	201					0	0	0.069456	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672526	108672526	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:108672526C>A	ENST00000261047.3	-	1	216	c.84G>T	c.(82-84)atG>atT	p.M28I	GUCA1C_ENST00000471108.1_Missense_Mutation_p.M28I|GUCA1C_ENST00000393963.3_Missense_Mutation_p.M28I	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	28	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						ATGGATATTCCATCATAAATG	0.408000													46	85					2.56175e-15	3.76753e-15	0.139131	1	0
NUCKS1	64710	broad.mit.edu	37	1	205693063	205693063	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:205693063G>A	ENST00000367142.4	-	4	522	c.220C>T	c.(220-222)Cac>Tac	p.H74Y		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	74						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCTGCTGAGTGAGAATCATCC	0.318000													16	144					0	0	0.038395	0	0
A2ML1	144568	broad.mit.edu	37	12	8998704	8998704	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:8998704C>T	ENST00000299698.7	+	14	1749	c.1569C>T	c.(1567-1569)acC>acT	p.T523T	A2ML1_ENST00000539547.1_Silent_p.T32T|A2ML1_ENST00000540049.1_3'UTR	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	367						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTCACTGACCTTCACTTCGA	0.468000													25	76					0	0	0.125774	0	0
ASAH1	427	broad.mit.edu	37	8	17933090	17933090	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:17933090C>G	ENST00000262097.6	-	2	396	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	ASAH1_ENST00000417108.2_5'UTR|ASAH1_ENST00000520781.1_Missense_Mutation_p.E29Q|ASAH1_ENST00000314146.10_Missense_Mutation_p.E45Q|ASAH1_ENST00000381733.4_Missense_Mutation_p.E45Q|ASAH1_ENST00000520051.1_5'UTR	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	29					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CTGCAGTCCTCTGTCCACTGA	0.363000													35	89					0	0	0.086207	0	0
BCHE	590	broad.mit.edu	37	3	165547390	165547390	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:165547390G>T	ENST00000264381.3	-	2	1598	c.1432C>A	c.(1432-1434)Ctg>Atg	p.L478M	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	478					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CTTCTTTCCAGAGGTAAACCA	0.388000													54	65					1.10885e-35	1.82316e-35	0.139131	1	0
ZNF845	91664	broad.mit.edu	37	19	53855182	53855182	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:53855182G>T	ENST00000458035.1	+	4	1371	c.1254G>T	c.(1252-1254)aaG>aaT	p.K418N	ZNF845_ENST00000595091.1_Missense_Mutation_p.K418N	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTGTGGCAAGACCTTCAGTC	0.408000													20	61					1.15919e-05	1.31325e-05	0.049695	1	0
OR13G1	441933	broad.mit.edu	37	1	247835634	247835634	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:247835634G>T	ENST00000359688.2	-	1	731	c.710C>A	c.(709-711)aCa>aAa	p.T237K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGATGAGCATGTTGAGAAGGC	0.448000													33	52					5.8336e-16	8.6665e-16	0.059317	1	0
INO80D	54891	broad.mit.edu	37	2	206874387	206874387	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:206874387G>A	ENST00000403263.1	-	9	2078	c.1674C>T	c.(1672-1674)ccC>ccT	p.P558P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	558					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGGGTTTTTGGGGTCGACGAG	0.562000													3	65					0	0	0.115264	0	0
PRSS58	136541	broad.mit.edu	37	7	141957510	141957510	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:141957510G>A	ENST00000552471.1	-	1	337	c.18C>T	c.(16-18)ctC>ctT	p.L6L	PRSS58_ENST00000547058.2_Silent_p.L6L			Q8IYP2	PRS58_HUMAN	protease, serine, 58	6					proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGAGAGCCCAGAGGAGGATAA	0.428000													15	103					0	0	0.033300	0	0
NCR1	9437	broad.mit.edu	37	19	55421425	55421425	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:55421425G>T	ENST00000594765.1	+	5	707	c.682_splice	c.e5+1	p.D228_splice	NCR1_ENST00000598576.1_Splice_Site_p.D216_splice|NCR1_ENST00000291890.4_Splice_Site_p.A228_splice|NCR1_ENST00000338835.5_Splice_Site_p.D228_splice|NCR1_ENST00000447255.1_Splice_Site_p.D228_splice|NCR1_ENST00000350790.5_Splice_Site_p.A133_splice|NCR1_ENST00000357397.5_Splice_Site_p.A121_splice			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	229					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CACCTTTCCTGGTGAGTAACT	0.478000													79	73					2.62214e-60	4.38521e-60	0.139131	1	0
MYH11	4629	broad.mit.edu	37	16	15865442	15865442	+	Missense_Mutation	SNP	G	G	T	rs112161189	byFrequency	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:15865442G>T	ENST00000338282.6	-	9	1123	c.1017C>A	c.(1015-1017)agC>agA	p.S339R	MYH11_ENST00000452625.2_Missense_Mutation_p.S346R|MYH11_ENST00000396324.3_Missense_Mutation_p.S346R|MYH11_ENST00000300036.5_Missense_Mutation_p.S339R|MYH11_ENST00000576790.1_Missense_Mutation_p.S339R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	339	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTCCTCCTCGCTGAAACCCA	0.532000			T	CBFB	AML								20	30					7.45023e-12	1.01258e-11	0.055883	1	0
AK8	158067	broad.mit.edu	37	9	135698592	135698592	+	Splice_Site	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:135698592C>A	ENST00000298545.3	-	9	1410	c.889_splice	c.e9+1	p.V297_splice	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	297	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GGGCACTCACCATTGACAAGC	0.642000													33	58					2.20474e-14	3.17337e-14	0.064281	1	0
SPON2	10417	broad.mit.edu	37	4	1165693	1165693	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:1165693A>G	ENST00000290902.5	-	2	499	c.167T>C	c.(166-168)tTc>tCc	p.F56S	SPON2_ENST00000431380.1_Missense_Mutation_p.F56S	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	56	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTGCTTGGGGAAGGCCGTCTG	0.672000													28	83					0	0	0.059317	0	0
IFRD1	3475	broad.mit.edu	37	7	112102373	112102373	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:112102373G>A	ENST00000403825.3	+	8	1107	c.846G>A	c.(844-846)atG>atA	p.M282I	IFRD1_ENST00000005558.4_Missense_Mutation_p.M282I|IFRD1_ENST00000535603.1_Missense_Mutation_p.M232I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	282					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						ATGTAAACATGAGAATAGCTG	0.383000													10	54					0	0	0.069234	0	0
MRPS30	10884	broad.mit.edu	37	5	44812016	44812016	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:44812016G>T	ENST00000507110.1	+	3	785		c.e3-1			NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30						apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTTTCTTTAAGTTTGTGCCAT	0.299000													18	97					6.33239e-15	9.20503e-15	0.055883	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125192149	125192149	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:125192149C>A	ENST00000431078.1	+	5	982	c.618C>A	c.(616-618)tcC>tcA	p.S206S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	206	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGTGATCTCCCTGAAGTTCA	0.502000													18	54					1.56452e-12	2.16664e-12	0.043863	1	0
VIT	5212	broad.mit.edu	37	2	36986195	36986195	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:36986195T>G	ENST00000457137.2	+	6	721	c.493T>G	c.(493-495)Tgc>Ggc	p.C165G	VIT_ENST00000379242.3_Intron|VIT_ENST00000389975.3_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000401530.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000497382.1_Intron	NM_001177972.1	NP_001171443.1	Q6UXI7	VITRN_HUMAN	vitrin	165						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGCAGGCAAGTGCTCACGTGT	0.443000													68	84					0	0	0.139131	0	0
DRD1	1812	broad.mit.edu	37	5	174869683	174869683	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:174869683G>T	ENST00000393752.2	-	2	1412	c.420C>A	c.(418-420)gcC>gcA	p.A140A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	140					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TCAGGATGAAGGCTGCCTTGG	0.542000													18	47					8.10497e-08	9.7884e-08	0.055883	1	0
TRBV6-9	28598	broad.mit.edu	37	7	142104553	142104553	+	RNA	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:142104553T>C	ENST00000390379.1	-	0	0																											CCGATGCTCATGGCAGGGGCT	0.602000													37	42					0	0	0.086207	0	0
KRT15	3866	broad.mit.edu	37	17	39670279	39670279	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:39670279A>G	ENST00000254043.3	-	8	4952	c.1367T>C	c.(1366-1368)aTc>aCc	p.I456T	KRT15_ENST00000393976.2_Missense_Mutation_p.I456T|KRT15_ENST00000393981.3_3'UTR|KRT15_ENST00000393974.3_Missense_Mutation_p.I291T	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	456	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AGACACTTAGATTTCTCTCTT	0.522000													22	204					0	0	0.083992	0	0
SPTA1	6708	broad.mit.edu	37	1	158626354	158626354	+	Splice_Site	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:158626354C>A	ENST00000368148.3	-	20	3078	c.2898_splice	c.e20+1	p.Q966_splice	SPTA1_ENST00000368147.3_Splice_Site_p.Q966_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	966					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTAGTCTTACCTGGCAGGCGT	0.398000													52	147					6.20943e-19	9.46507e-19	0.139131	1	0
CFH	3075	broad.mit.edu	37	1	196695992	196695992	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:196695992T>A	ENST00000367429.4	+	14	2398	c.2158T>A	c.(2158-2160)Tca>Aca	p.S720T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	720	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTCAATTGCTCAGAATCATT	0.438000													23	132					0	0	0.083992	0	0
USH2A	7399	broad.mit.edu	37	1	215823984	215823984	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:215823984C>T	ENST00000366943.2	-	65	14679	c.14293G>A	c.(14293-14295)Gtc>Atc	p.V4765I	USH2A_ENST00000307340.3_Missense_Mutation_p.V4765I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4765	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGAGACTGACGATCCCGTTG	0.547000										HNSCC(13;0.011)			12	111					0	0	0.105934	0	0
DOPEY1	23033	broad.mit.edu	37	6	83839224	83839224	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:83839224A>G	ENST00000349129.2	+	16	2598	c.2338A>G	c.(2338-2340)Act>Gct	p.T780A	DOPEY1_ENST00000369739.3_Missense_Mutation_p.T771A|DOPEY1_ENST00000237163.5_Missense_Mutation_p.T761A	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	780					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAATTGGAGACTGGTAAGGT	0.398000													34	39					0	0	0.059317	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120302	12120302	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:12120302G>C	ENST00000379388.2	+	4	606	c.274G>C	c.(274-276)Gag>Cag	p.E92Q		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	92					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TAGTGCTTCGGAGTCTCACAA	0.373000													11	216					0	0	0.080935	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174893	11174893	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:11174893T>C	ENST00000390673.2	-	1	326	c.278A>G	c.(277-279)cAt>cGt	p.H93R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	93					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CATGCTGAAATGGTTCGTTAC	0.388000													22	55					0	0	0.108266	0	0
LY75	4065	broad.mit.edu	37	2	160692137	160692137	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:160692137C>A	ENST00000263636.4	-	26	3554	c.3527G>T	c.(3526-3528)tGg>tTg	p.W1176L	LY75_ENST00000553424.1_Missense_Mutation_p.W1176L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.W1176L|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.W1176L|LY75_ENST00000554112.1_Missense_Mutation_p.W1176L	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCCATCTGACCAACCAAAGTT	0.403000													15	52					5.03518e-11	6.79092e-11	0.043863	1	0
VEPH1	79674	broad.mit.edu	37	3	157031483	157031483	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:157031483C>A	ENST00000362010.2	-	11	2244	c.1937G>T	c.(1936-1938)tGg>tTg	p.W646L	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.W646L|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000494885.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	646						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTCTTCTCCCACAGAGCTCT	0.473000													38	52					1.57019e-19	2.40599e-19	0.098360	1	0
SLIT2	9353	broad.mit.edu	37	4	20618601	20618601	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:20618601G>T	ENST00000504154.1	+	35	4168	c.3916G>T	c.(3916-3918)Ggc>Tgc	p.G1306C	SLIT2_ENST00000503837.1_Missense_Mutation_p.G1302C|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1298C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1319C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1306	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGCTTCCACGGCTGCATCCG	0.582000													9	37					5.16669e-11	6.94694e-11	0.080935	1	0
LPO	4025	broad.mit.edu	37	17	56344792	56344792	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:56344792G>A	ENST00000262290.4	+	12	2092	c.1776G>A	c.(1774-1776)atG>atA	p.M592I	LPO_ENST00000421678.2_Missense_Mutation_p.M509I|LPO_ENST00000543544.1_Missense_Mutation_p.M533I|LPO_ENST00000582328.1_Missense_Mutation_p.M509I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	592					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGAGCAAGATGCTGGCCAAGA	0.567000													10	84					0	0	0.069234	0	0
PARP8	79668	broad.mit.edu	37	5	50090704	50090704	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:50090704C>T	ENST00000281631.5	+	12	1039	c.881C>T	c.(880-882)cCc>cTc	p.P294L	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.P47L|PARP8_ENST00000505554.1_Missense_Mutation_p.P273L|PARP8_ENST00000514067.2_Missense_Mutation_p.P294L|PARP8_ENST00000505697.2_Missense_Mutation_p.P294L|PARP8_ENST00000503750.2_Missense_Mutation_p.P294L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	294						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGTTATCCTCCCCCTGGTTGT	0.463000													11	17					0	0	0.093190	0	0
C1orf27	54953	broad.mit.edu	37	1	186375225	186375225	+	Silent	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:186375225A>G	ENST00000367470.3	+	11	1178	c.942A>G	c.(940-942)aaA>aaG	p.K314K	C1orf27_ENST00000287859.6_Silent_p.K337K|C1orf27_ENST00000419367.3_Silent_p.K305K|C1orf27_ENST00000432021.3_Silent_p.K314K	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	337						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						ATTCTGAAAAAGAGTTCCACG	0.333000													11	80					0	0	0.080935	0	0
LCLAT1	253558	broad.mit.edu	37	2	30785159	30785159	+	Splice_Site	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:30785159G>A	ENST00000309052.4	+	5	834		c.e5+1		LCLAT1_ENST00000491680.2_Splice_Site|LCLAT1_ENST00000319406.4_Splice_Site|LCLAT1_ENST00000540623.1_Splice_Site|LCLAT1_ENST00000359433.1_Splice_Site|LCLAT1_ENST00000379509.3_Splice_Site	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1						multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GATCTCACAGGTAATGTAGCC	0.393000													47	65					0	0	0.139131	0	0
SUN3	256979	broad.mit.edu	37	7	48045605	48045605	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:48045605C>T	ENST00000453192.2	-	7	745	c.502G>A	c.(502-504)Gac>Aac	p.D168N	SUN3_ENST00000395572.2_Missense_Mutation_p.D180N|SUN3_ENST00000297325.4_Missense_Mutation_p.D180N|SUN3_ENST00000412142.1_Missense_Mutation_p.D80N			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	180						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCGACTTGGTCTTCTCTCAAC	0.368000													17	83					0	0	0.049695	0	0
OR13F1	138805	broad.mit.edu	37	9	107266861	107266861	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:107266861C>T	ENST00000334726.2	+	1	407	c.318C>T	c.(316-318)gcC>gcT	p.A106A		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTCCCTTGCCATGGGCTCCA	0.517000													13	29					0	0	0.093190	0	0
DNAH9	1770	broad.mit.edu	37	17	11872804	11872804	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:11872804A>T	ENST00000262442.3	+	69	13489	c.13421A>T	c.(13420-13422)aAg>aTg	p.K4474M	DNAH9_ENST00000454412.2_Missense_Mutation_p.K4398M|DNAH9_ENST00000396001.2_Missense_Mutation_p.K786M|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4474					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACCCATCCAAGTGGGTTCTG	0.522000													4	26					0	0	0.009096	0	0
TMEM176A	55365	broad.mit.edu	37	7	150500783	150500783	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:150500783T>A	ENST00000484928.1	+	5	999	c.418T>A	c.(418-420)Ttc>Atc	p.F140I	TMEM176A_ENST00000461345.1_Missense_Mutation_p.F81I|TMEM176A_ENST00000004103.3_Missense_Mutation_p.F140I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	140						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAATGAAGATTTCCGATATGG	0.547000													33	87					0	0	0.069456	0	0
PRMT5	10419	broad.mit.edu	37	14	23397790	23397790	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:23397790G>A	ENST00000324366.8	-	2	368	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397440.4_Missense_Mutation_p.R32C|PRMT5_ENST00000553897.1_Missense_Mutation_p.R49C|PRMT5_ENST00000397441.2_Missense_Mutation_p.R32C|PRMT5_ENST00000216350.8_Missense_Mutation_p.R32C|PRMT5_ENST00000538452.1_Intron	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	49					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CTCTTGAAACGCGGATGGAAG	0.537000													19	43					0	0	0.055883	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675922	54675922	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:54675922G>T	ENST00000546500.1	+	4	943	c.328G>T	c.(328-330)Ggt>Tgt	p.G110C	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.G110C|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.G110C|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.G110C			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	110	Globular B domain.|RRM 2.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GATATTTGTTGGTGGCATTAA	0.368000													20	35					4.87955e-14	6.96626e-14	0.108266	1	0
KCNB2	9312	broad.mit.edu	37	8	73480471	73480471	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:73480471G>C	ENST00000523207.1	+	2	1090	c.502G>C	c.(502-504)Gat>Cat	p.D168H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	168					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGAAGAGTTTGATAATACCTG	0.453000													58	123					0	0	0.139131	0	0
NCOR2	9612	broad.mit.edu	37	12	124826371	124826371	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:124826371C>A	ENST00000356219.3	-	35	5362	c.5207G>T	c.(5206-5208)cGa>cTa	p.R1736L	NCOR2_ENST00000397355.1_Missense_Mutation_p.R1720L|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1729L|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1719L|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1290L|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1719L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1737					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCACTCACCTCGGGGACCCGC	0.672000													27	40					1.99505e-19	3.05167e-19	0.050027	1	0
DDR2	4921	broad.mit.edu	37	1	162724539	162724539	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:162724539G>T	ENST00000367922.2	+	6	749	c.311G>T	c.(310-312)gGg>gTg	p.G104V	DDR2_ENST00000367921.3_Missense_Mutation_p.G104V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	104	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GGGACCCAGGGGCGCCATGCA	0.557000													18	86					2.35188e-11	3.18665e-11	0.038395	1	0
LANCL2	55915	broad.mit.edu	37	7	55459528	55459528	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:55459528G>C	ENST00000254770.2	+	2	825	c.247G>C	c.(247-249)Gat>Cat	p.D83H		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	83					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CAAAATTAAAGATCTTCTGCA	0.418000													17	78					0	0	0.033300	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864516	102864516	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:102864516C>A	ENST00000372628.1	+	3	882	c.524C>A	c.(523-525)cCa>cAa	p.P175Q	TCEAL3_ENST00000243286.3_Missense_Mutation_p.P175Q|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.P175Q			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CCATTCGCCCCAAGGGGACAA	0.512000													15	149					5.26018e-13	7.37769e-13	0.062417	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55064981	55064981	+	RNA	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:55064981C>A	ENST00000526016.1	-	0	444					NR_038174.2																						CTGGTGGTTTCCATGTTCAGG	0.408000													16	47					4.14922e-12	5.69221e-12	0.146539	1	0
NR2F6	2063	broad.mit.edu	37	19	17346351	17346351	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:17346351C>T	ENST00000291442.3	-	3	1616	c.897G>A	c.(895-897)tcG>tcA	p.S299S		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	299	Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CATACTCGGCCGAGTCGACCT	0.701000													3	16					0	0	0.009096	0	0
RREB1	6239	broad.mit.edu	37	6	7231533	7231533	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:7231533C>T	ENST00000379938.2	+	10	3738	c.3201C>T	c.(3199-3201)tcC>tcT	p.S1067S	RREB1_ENST00000334984.6_Silent_p.S1067S|RREB1_ENST00000349384.6_Silent_p.S1067S|RREB1_ENST00000379933.3_Silent_p.S1067S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1067					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGCTGGCCTCCATTGCCCAGA	0.647000													6	69					0	0	0.038147	0	0
GPR4	2828	broad.mit.edu	37	19	46094994	46094994	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:46094994C>G	ENST00000323040.4	-	2	1075	c.131G>C	c.(130-132)cGc>cCc	p.R44P	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	44						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TTGCACCTGGCGGTAGGCCGC	0.632000													9	42					0	0	0.047766	0	0
UBAP2L	9898	broad.mit.edu	37	1	154224028	154224028	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:154224028G>C	ENST00000428931.1	+	14	1730	c.1563G>C	c.(1561-1563)ttG>ttC	p.L521F	UBAP2L_ENST00000343815.6_Missense_Mutation_p.L521F|UBAP2L_ENST00000361546.2_Missense_Mutation_p.L521F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.L532F	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	521					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGGGGCATTGCAGTTTGGGT	0.522000													30	139					0	0	0.144211	0	0
OR4K5	79317	broad.mit.edu	37	14	20389173	20389173	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:20389173G>C	ENST00000315915.4	+	1	433	c.408G>C	c.(406-408)atG>atC	p.M136I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTCATCATGAGCCGAAGGA	0.448000													49	570					0	0	0.139131	0	0
OR11G2	390439	broad.mit.edu	37	14	20666364	20666364	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:20666364C>T	ENST00000357366.3	+	1	870	c.870C>T	c.(868-870)taC>taT	p.Y290Y		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y290*(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CACTGTTCTACGGCTCAGTAC	0.507000													31	111					0	0	0.045705	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803985	50803985	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:50803985C>T	ENST00000263046.4	+	5	1006	c.840C>T	c.(838-840)gtC>gtT	p.V280V	TFAP2B_ENST00000393655.3_Silent_p.V271V			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	271					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TCGGCGGAGTCCTCAGAAGGT	0.453000													6	25					0	0	0.029380	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565352	58565352	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:58565352A>G	ENST00000282326.1	+	6	1407	c.1160A>G	c.(1159-1161)aAg>aGg	p.K387R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	387					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTCTGCGGGAAGGCCTTCCCC	0.687000													4	4					0	0	0.009096	0	0
PAK7	57144	broad.mit.edu	37	20	9561141	9561141	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:9561141T>A	ENST00000378429.3	-	5	1187	c.641A>T	c.(640-642)gAc>gTc	p.D214V	PAK7_ENST00000353224.5_Missense_Mutation_p.D214V|PAK7_ENST00000378423.1_Missense_Mutation_p.D214V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	214	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCACTTGAGGTCACTGTATTC	0.468000													6	82					0	0	0.021553	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42866314	42866314	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:42866314G>A	ENST00000455697.1	-	2	290	c.5C>T	c.(4-6)cCt>cTt	p.P2L	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.P2L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.P2L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.P2L|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.P2L	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	2					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CATCTCCAAAGGCATAAAGTT	0.443000													17	46					0	0	0.033300	0	0
GPD2	2820	broad.mit.edu	37	2	157406196	157406196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:157406196C>A	ENST00000310454.6	+	7	1110	c.738C>A	c.(736-738)taC>taA	p.Y246*	GPD2_ENST00000409674.1_Nonsense_Mutation_p.Y246*|GPD2_ENST00000540309.1_Nonsense_Mutation_p.Y246*|GPD2_ENST00000409125.4_Nonsense_Mutation_p.Y19*|GPD2_ENST00000438166.2_Nonsense_Mutation_p.Y246*	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	246					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CAGCCAATTACATGGAGGTAG	0.567000													10	38					0.0581538	0.0599284	0.058154	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227261685	227261685	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:227261685G>A	ENST00000366769.3	-	19	3906	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A791V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A872V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A872V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A872V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A872V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A872V|CDC42BPA_ENST00000488131.1_5'UTR	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	872					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATCCAGTTTCGCAAAACGACG	0.378000													11	207					0	0	0.093190	0	0
LPHN2	23266	broad.mit.edu	37	1	82408728	82408728	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:82408728C>A	ENST00000370728.1	+	8	1118	c.473C>A	c.(472-474)gCt>gAt	p.A158D	LPHN2_ENST00000370715.1_Missense_Mutation_p.A158D|LPHN2_ENST00000370730.1_Missense_Mutation_p.A158D|LPHN2_ENST00000370713.1_Missense_Mutation_p.A158D|LPHN2_ENST00000271029.4_Missense_Mutation_p.A158D|LPHN2_ENST00000370717.2_Missense_Mutation_p.A158D|LPHN2_ENST00000394879.1_Missense_Mutation_p.A158D|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.A158D|LPHN2_ENST00000335786.5_Missense_Mutation_p.A158D|LPHN2_ENST00000370721.1_Missense_Mutation_p.A162D|LPHN2_ENST00000370727.1_Missense_Mutation_p.A158D|LPHN2_ENST00000370723.1_Missense_Mutation_p.A158D|LPHN2_ENST00000359929.3_Missense_Mutation_p.A158D|LPHN2_ENST00000370725.1_Missense_Mutation_p.A158D			O95490	LPHN2_HUMAN	latrophilin 2	158	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGGCGGGTGCTTGGTGCAAG	0.408000													21	82					0.000175454	0.000192561	0.055883	1	0
ABCB8	11194	broad.mit.edu	37	7	150738266	150738266	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:150738266C>T	ENST00000358849.4	+	13	1657	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	ABCB8_ENST00000297504.6_Missense_Mutation_p.R539C|ABCB8_ENST00000542328.1_Missense_Mutation_p.R434C|ABCB8_ENST00000498578.1_Missense_Mutation_p.R522C|ABCB8_ENST00000356058.4_3'UTR	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	539	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGGACCTGCGCACCCTTGA	0.677000													12	37					0	0	0.080935	0	0
NXNL2	158046	broad.mit.edu	37	9	91150523	91150523	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:91150523G>A	ENST00000375855.3	+	1	504	c.174G>A	c.(172-174)gaG>gaA	p.E58E	NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375854.3_Silent_p.E58E	NM_145283.2	NP_660326.2	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	58	Thioredoxin.									lung(3)	3						TGGTGGCCGAGGCGCGGCGGC	0.692000													8	16					0	0	0.047766	0	0
FNDC1	84624	broad.mit.edu	37	6	159653296	159653296	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:159653296G>T	ENST00000297267.9	+	11	1952	c.1752G>T	c.(1750-1752)gtG>gtT	p.V584V	FNDC1_ENST00000340366.6_Silent_p.V521V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	584						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGACTGCAGTGAGGGCCCGGA	0.682000													3	8					0.115264	0.11754	0.115264	1	0
EDNRA	1909	broad.mit.edu	37	4	148457076	148457076	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:148457076T>A	ENST00000324300.5	+	5	1310	c.795T>A	c.(793-795)tgT>tgA	p.C265*	EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000511804.1_Nonsense_Mutation_p.C40*|EDNRA_ENST00000358556.4_Nonsense_Mutation_p.C156*|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000506066.1_Nonsense_Mutation_p.C156*	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	265					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TCTATTTCTGTATGCCCTTGG	0.423000													8	195					0	0	0.047766	0	0
FAT2	2196	broad.mit.edu	37	5	150946034	150946034	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:150946034A>T	ENST00000261800.5	-	1	2471	c.2459T>A	c.(2458-2460)tTt>tAt	p.F820Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	820	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCGGGAGGAAATCTGGGTGC	0.502000													6	47					0	0	0.038147	0	0
SGCZ	137868	broad.mit.edu	37	8	14181665	14181665	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:14181665C>A	ENST00000382080.1	-	3	998	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	82					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCAGATATACCTTCAAGTCGG	0.353000													29	33					3.90053e-15	5.69827e-15	0.050027	1	0
FOXC2	2303	broad.mit.edu	37	16	86601305	86601305	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:86601305C>A	ENST00000320354.4	+	1	449	c.364C>A	c.(364-366)Cac>Aac	p.H122N	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	122					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CAGCATCCGCCACAACCTCTC	0.587000									Late-onset Hereditary Lymphedema				31	27					3.99451e-17	5.97475e-17	0.144211	1	0
TMEM81	388730	broad.mit.edu	37	1	205053409	205053409	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:205053409C>A	ENST00000367167.3	-	1	236	c.40G>T	c.(40-42)Ggg>Tgg	p.G14W		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	14						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AAGGCCAACCCCAGGCTCCCA	0.522000													11	47					0.00010058	0.000110802	0.093190	1	0
FGF7	2252	broad.mit.edu	37	15	49716577	49716577	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:49716577T>C	ENST00000267843.4	+	2	694	c.83T>C	c.(82-84)aTa>aCa	p.I28T	FGF7_ENST00000560270.1_Missense_Mutation_p.I28T|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	28					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GTGGGTACTATATCTTTAGCT	0.428000													27	83					0	0	0.099896	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994056	91994056	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:91994056G>A	ENST00000450295.1	-	16	2928	c.2152C>T	c.(2152-2154)Ccc>Tcc	p.P718S	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P718S|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P718S|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P718S			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	718					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGAGCTGGGGGACCGTGTTG	0.587000													11	28					0	0	0.105934	0	0
TEX14	56155	broad.mit.edu	37	17	56690783	56690783	+	Splice_Site	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:56690783C>A	ENST00000389934.3	-	9	1121	c.1005_splice	c.e9+1	p.R335_splice	TEX14_ENST00000240361.8_Splice_Site_p.R341_splice|TEX14_ENST00000349033.5_Splice_Site_p.R335_splice	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	341	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTTTACTCGTTCATGAAG	0.512000													19	59					1.33834e-09	1.71792e-09	0.043863	1	0
GBF1	8729	broad.mit.edu	37	10	104123556	104123556	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:104123556G>T	ENST00000369983.3	+	17	2363		c.e17+1			NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1						COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAAAAAGAAGGTACATACATG	0.473000													48	63					3.7052e-28	5.96911e-28	0.131918	1	0
DDR2	4921	broad.mit.edu	37	1	162729671	162729671	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:162729671G>A	ENST00000367922.2	+	9	1195	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	DDR2_ENST00000367921.3_Missense_Mutation_p.G253S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	253					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CGTGTGGCCCGGCTATGACTA	0.527000													20	59					0	0	0.043863	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808046	100808046	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:100808046A>G	ENST00000372829.3	+	4	504	c.133A>G	c.(133-135)Acg>Gcg	p.T45A		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	45						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CGAGGAGTCTACGGACACCTC	0.547000													5	21					0	0	0.014758	0	0
GOLGA2	2801	broad.mit.edu	37	9	131036192	131036192	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:131036192C>G	ENST00000421699.2	-	2	156	c.144G>C	c.(142-144)aaG>aaC	p.K48N	GOLGA2_ENST00000490628.1_Missense_Mutation_p.K48N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	48	Poly-Lys.					Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TTTTTATTTTCTTCTTCTTTT	0.468000													142	184					0	0	0.139131	0	0
SAMD8	142891	broad.mit.edu	37	10	76924411	76924411	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:76924411G>C	ENST00000542569.1	+	3	690	c.587G>C	c.(586-588)aGa>aCa	p.R196T	SAMD8_ENST00000372687.3_Missense_Mutation_p.R196T|SAMD8_ENST00000372690.3_Missense_Mutation_p.R259T	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	196					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCGTTCCTAGAATCCCATGG	0.403000													17	97					0	0	0.038395	0	0
MYH9	4627	broad.mit.edu	37	22	36718481	36718481	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:36718481G>A	ENST00000216181.5	-	6	928	c.698C>T	c.(697-699)tCc>tTc	p.S233F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	233	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACGAAGCGGGAGGAGTTGTC	0.662000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	51					0	0	0.038147	0	0
FXYD5	53827	broad.mit.edu	37	19	35646481	35646481	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:35646481C>G	ENST00000342879.3	+	1	806	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	FXYD5_ENST00000590686.1_Missense_Mutation_p.L10V|FXYD5_ENST00000588699.1_Missense_Mutation_p.L10V|FXYD5_ENST00000543307.1_Missense_Mutation_p.L10V|FXYD5_ENST00000541435.2_Missense_Mutation_p.L10V|FXYD5_ENST00000423817.3_Missense_Mutation_p.L10V|FXYD5_ENST00000392218.2_Missense_Mutation_p.L10V|FXYD5_ENST00000392219.2_Missense_Mutation_p.L10V			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	10					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTGTGTCTTCTCACCATCGT	0.657000													10	47					0	0	0.093190	0	0
TAF8	129685	broad.mit.edu	37	6	42036223	42036223	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:42036223A>C	ENST00000372977.3	+	7	676	c.658A>C	c.(658-660)Acc>Ccc	p.T220P	TAF8_ENST00000494547.1_Missense_Mutation_p.T220P|TAF8_ENST00000372982.4_Missense_Mutation_p.T220P|TAF8_ENST00000456846.2_Missense_Mutation_p.T220P|TAF8_ENST00000465926.1_Intron	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	220					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CAGACCTTTCACCATCCCCTA	0.512000													151	292					0	0	0.139131	0	0
PDE4B	5142	broad.mit.edu	37	1	66731742	66731742	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:66731742G>C	ENST00000423207.2	+	5	1046	c.561G>C	c.(559-561)caG>caC	p.Q187H	PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000371049.3_Missense_Mutation_p.Q202H|PDE4B_ENST00000329654.4_Missense_Mutation_p.Q202H	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	202					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CTGCTAGTCAGCCTCCTGTCT	0.483000													3	65					0	0	0.115264	0	0
HAO1	54363	broad.mit.edu	37	20	7875841	7875841	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:7875841C>T	ENST00000378789.3	-	5	803	c.752G>A	c.(751-753)gGc>gAc	p.G251D		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	251	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCATTCAAGCCATGTTTAAC	0.498000													62	47					0	0	0.139131	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101765724	101765724	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:101765724C>A	ENST00000334289.3	-	8	1328	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	245	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TCCAAAGCCACATACAGCATA	0.303000													17	54					6.49762e-13	9.05541e-13	0.038395	1	0
ALK	238	broad.mit.edu	37	2	29754815	29754815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:29754815C>A	ENST00000389048.3	-	4	2026	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	374	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGGAGGATCTCTCTTGCAGCC	0.532000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				13	60					0.0332995	0.034437	0.033300	1	0
HERC2	8924	broad.mit.edu	37	15	28388005	28388005	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:28388005C>A	ENST00000261609.7	-	75	11620	c.11512G>T	c.(11512-11514)Ggc>Tgc	p.G3838C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3838					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCTGTTTGCCACCCCTCACA	0.413000													4	7					0.00909568	0.00950715	0.009096	1	0
CNKSR2	22866	broad.mit.edu	37	X	21444638	21444638	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:21444638T>C	ENST00000425654.2	+	2	568	c.88T>C	c.(88-90)Tat>Cat	p.Y30H	CNKSR2_ENST00000279451.4_Missense_Mutation_p.Y30H|CNKSR2_ENST00000543067.1_Missense_Mutation_p.Y30H|CNKSR2_ENST00000379510.3_Missense_Mutation_p.Y30H	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	30	SAM.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTGCAGCAGTATATTAAGAA	0.438000													14	12					0	0	0.146539	0	0
OR2T33	391195	broad.mit.edu	37	1	248436872	248436872	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:248436872T>C	ENST00000318021.2	-	1	266	c.245A>G	c.(244-246)gAc>gGc	p.D82G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGTCAAGTAGTCAGCCGCCAT	0.582000													14	180					0	0	0.125774	0	0
INTS1	26173	broad.mit.edu	37	7	1512766	1512766	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:1512766C>T	ENST00000389470.4	-	44	6623	c.6624G>A	c.(6622-6624)ggG>ggA	p.G2208G	INTS1_ENST00000404767.3_Silent_p.G2004G			Q8N201	INT1_HUMAN	integrator complex subunit 1	2004					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCAGGCTGAGCCCTGCAAGGA	0.637000													7	58					0	0	0.038147	0	0
ANK2	287	broad.mit.edu	37	4	114294601	114294601	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:114294601C>T	ENST00000357077.4	+	45	11908	c.11855C>T	c.(11854-11856)tCa>tTa	p.S3952L	ANK2_ENST00000394537.3_Missense_Mutation_p.S1867L|ANK2_ENST00000510275.2_Missense_Mutation_p.S550L|ANK2_ENST00000506722.1_Missense_Mutation_p.S1858L|ANK2_ENST00000264366.6_Missense_Mutation_p.S3919L|ANK2_ENST00000509550.1_Missense_Mutation_p.S1043L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3919					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCGAGCAGTCAGAGGTGAGA	0.428000													14	66					0	0	0.043863	0	0
PLCB4	5332	broad.mit.edu	37	20	9368188	9368188	+	Silent	SNP	A	A	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:9368188A>C	ENST00000378501.2	+	12	1158	c.1143A>C	c.(1141-1143)acA>acC	p.T381T	PLCB4_ENST00000278655.4_Silent_p.T381T|PLCB4_ENST00000378493.1_Silent_p.T381T|PLCB4_ENST00000414679.2_Silent_p.T381T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.T381T|PLCB4_ENST00000334005.3_Silent_p.T381T	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	381	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAATGTGTACAGATATCCTTT	0.348000													31	35					0	0	0.045705	0	0
LAMB3	3914	broad.mit.edu	37	1	209799177	209799177	+	Missense_Mutation	SNP	G	G	A	rs139547896		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:209799177G>A	ENST00000391911.1	-	13	2181	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	LAMB3_ENST00000356082.4_Missense_Mutation_p.R598C|LAMB3_ENST00000367030.3_Missense_Mutation_p.R598C	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	598	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTACCAAAGCGCAGGGCCTGC	0.632000													21	52					0	0	0.049695	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98848982	98848982	+	RNA	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:98848982G>T	ENST00000554295.1	-	0	1941					NR_033801.1																						GCGGGGAGCCGCTTTGTCTAC	0.622000													3	2					0.115264	0.11754	0.115264	1	0
NOL6	65083	broad.mit.edu	37	9	33462769	33462769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:33462769C>A	ENST00000455041.2	-	25	3237	c.3178G>T	c.(3178-3180)Gag>Tag	p.E1060*	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1112					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATTACTAGCTCCCCACCTCGA	0.577000													14	28					1.15088e-07	1.38421e-07	0.146539	1	0
PTBP2	58155	broad.mit.edu	37	1	97217042	97217042	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:97217042G>T	ENST00000236228.6	+	3	183	c.101G>T	c.(100-102)aGc>aTc	p.S34I	PTBP2_ENST00000370198.1_Missense_Mutation_p.S34I|PTBP2_ENST00000370197.1_Missense_Mutation_p.S34I|PTBP2_ENST00000426398.2_Missense_Mutation_p.S34I|PTBP2_ENST00000541987.1_Missense_Mutation_p.S3I|PTBP2_ENST00000394184.3_Missense_Mutation_p.S45I|PTBP2_ENST00000482253.1_Intron	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	34							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)		AATATGAGCAGCATGGTAGTT	0.383000													93	127					4.04957e-52	6.74673e-52	0.139131	1	0
BEX2	84707	broad.mit.edu	37	X	102564741	102564741	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:102564741C>T	ENST00000536889.1	-	3	617	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	BEX2_ENST00000372674.1_Missense_Mutation_p.R55Q|BEX2_ENST00000372677.3_Missense_Mutation_p.R55Q	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	55					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						AACGCGGAACCGCCTACGGTT	0.478000													18	61					0	0	0.049695	0	0
MUC16	94025	broad.mit.edu	37	19	9091776	9091776	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:9091776G>T	ENST00000397910.4	-	1	242	c.39C>A	c.(37-39)ccC>ccA	p.P13P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGCGGGTGGGAGAAGATG	0.542000													6	36					0.00116845	0.00125109	0.021553	1	0
FGB	2244	broad.mit.edu	37	4	155487759	155487759	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:155487759C>G	ENST00000302068.4	+	3	488	c.425C>G	c.(424-426)tCt>tGt	p.S142C	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	142					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGACCTCCTCTTCTTCCTTT	0.418000													15	80					0	0	0.119110	0	0
ZNF223	7766	broad.mit.edu	37	19	44570538	44570538	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:44570538G>A	ENST00000591793.1	+	7	970	c.887G>A	c.(886-888)tGt>tAt	p.C296Y	ZNF223_ENST00000434772.3_Missense_Mutation_p.C186Y			Q9UK11	ZN223_HUMAN	zinc finger protein 223	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AAAAGCTTCTGTTACATCTCA	0.423000													80	100					0	0	0.139131	0	0
CTSG	1511	broad.mit.edu	37	14	25043566	25043566	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:25043566C>A	ENST00000216336.2	-	4	515	c.479G>T	c.(478-480)cGa>cTa	p.R160L		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	160	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CTGCACCTCTCGGAGTGTATC	0.647000													24	39					1.32003e-05	1.48588e-05	0.108266	1	0
CDH12	1010	broad.mit.edu	37	5	21752100	21752100	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:21752100T>G	ENST00000382254.1	-	15	3217	c.2131A>C	c.(2131-2133)Aca>Cca	p.T711P	CDH12_ENST00000504376.2_Missense_Mutation_p.T711P|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.T671P|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	711					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTTATGTCTGTGTTATCTTCC	0.448000										HNSCC(59;0.17)			14	102					0	0	0.083992	0	0
PRDM9	56979	broad.mit.edu	37	5	23526954	23526954	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:23526954G>T	ENST00000296682.3	+	11	1939	c.1757G>T	c.(1756-1758)gGg>gTg	p.G586V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	586					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGGGAGTGTGGGCGGGGCTTT	0.607000										HNSCC(3;0.000094)			10	103					2.62699e-14	3.76264e-14	0.132662	1	0
IGF2R	3482	broad.mit.edu	37	6	160494911	160494911	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:160494911C>G	ENST00000356956.1	+	35	5218	c.5070C>G	c.(5068-5070)ttC>ttG	p.F1690L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1690					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACCCTGATTTCTACATCAATA	0.488000													5	22					0	0	0.014758	0	0
CSMD3	114788	broad.mit.edu	37	8	114326847	114326847	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:114326847G>T	ENST00000297405.5	-	2	598	c.354C>A	c.(352-354)taC>taA	p.Y118*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y118*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y78*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y118*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	118	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAATGATAAGTAGTCGTATT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			52	39					7.47603e-22	1.16176e-21	0.139131	1	0
CXorf22	170063	broad.mit.edu	37	X	35993865	35993865	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:35993865G>C	ENST00000297866.5	+	15	2614	c.2548G>C	c.(2548-2550)Gag>Cag	p.E850Q		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	850										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGTAACACTTGAGCTATCTTC	0.433000													6	69					0	0	0.021553	0	0
MAST4	375449	broad.mit.edu	37	5	66462216	66462216	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:66462216G>A	ENST00000404260.3	+	29	7526	c.7218G>A	c.(7216-7218)gcG>gcA	p.A2406A	MAST4_ENST00000403625.2_Silent_p.A2403A|MAST4_ENST00000405643.1_Silent_p.A2224A|MAST4_ENST00000261569.7_Silent_p.A2209A|MAST4_ENST00000403666.1_Silent_p.A2214A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2406						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGAAAGGCGCGGAGCGGCCAG	0.632000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	10					0	0	0.021553	0	0
SPAG16	79582	broad.mit.edu	37	2	214354687	214354687	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:214354687G>T	ENST00000331683.5	+	10	1038	c.942_splice	c.e10-1	p.D315_splice	SPAG16_ENST00000374309.3_Splice_Site_p.D221_splice	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	315					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTTTCTCTAGGATTCAGAATT	0.289000													13	54					2.61681e-11	3.54016e-11	0.119110	1	0
ANKRD1	27063	broad.mit.edu	37	10	92678688	92678688	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:92678688C>A	ENST00000371697.3	-	4	635	c.387G>T	c.(385-387)ctG>ctT	p.L129L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	129					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GTTTATTCTCCAGAGCAGCCT	0.368000													19	89					0.00121646	0.00130092	0.049695	1	0
RCN2	5955	broad.mit.edu	37	15	77240793	77240793	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:77240793G>C	ENST00000394885.3	+	6	924	c.701G>C	c.(700-702)aGa>aCa	p.R234T	RCN2_ENST00000320963.5_Missense_Mutation_p.R252T|RCN2_ENST00000394883.3_Missense_Mutation_p.R133T	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	234	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						GAGAAAGACAGATTCGTGAAT	0.368000													18	54					0	0	0.033300	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294763	77294763	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:77294763G>A	ENST00000216453.5	+	1	89	c.89G>A	c.(88-90)gGc>gAc	p.G30D	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000393774.3_Splice_Site|C14orf166B_ENST00000450042.2_Splice_Site			Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	73										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAGATTGAAGGCGAGCATGGG	0.532000													12	61					0	0	0.132662	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680760	106680760	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:106680760T>G	ENST00000526355.1	-	5	2119	c.1651A>C	c.(1651-1653)Acc>Ccc	p.T551P	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.T551P|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.T572P	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	551	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TCAAATCTGGTGTACAGTTCA	0.368000													11	41					0	0	0.080935	0	0
DNAH3	55567	broad.mit.edu	37	16	21110000	21110000	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:21110000C>T	ENST00000261383.3	-	17	2456	c.2457G>A	c.(2455-2457)aaG>aaA	p.K819K	DNAH3_ENST00000415178.1_Silent_p.K819K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	819	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAACATTGTGCTTCATTTCTT	0.413000													64	75					0	0	0.139131	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590789	56590789	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:56590789G>T	ENST00000338222.5	+	1	764	c.483G>T	c.(481-483)tcG>tcT	p.S161S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	161						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCTTGAGCTCGACCAACTTCT	0.532000													9	12					0.00448238	0.00475306	0.047766	1	0
TEX26	122046	broad.mit.edu	37	13	31543078	31543078	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:31543078A>G	ENST00000380473.3	+	6	716	c.703A>G	c.(703-705)Aca>Gca	p.T235A	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	235																	GAAACAGACCACATACCAAAG	0.453000													29	40					0	0	0.108266	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28454762	28454762	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:28454762A>G	ENST00000383768.2	+	3	391	c.203A>G	c.(202-204)tAt>tGt	p.Y68C	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.Y68C			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	68							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GATTCAAGATATAATAACTGC	0.388000													66	111					0	0	0.139131	0	0
TYR	7299	broad.mit.edu	37	11	89018110	89018110	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:89018110C>A	ENST00000263321.5	+	4	1856	c.1354C>A	c.(1354-1356)Cta>Ata	p.L452I		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	452					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTATAGCTATCTACAAGATTC	0.348000													17	52					1.67942e-08	2.07096e-08	0.038395	1	0
SUV420H1	51111	broad.mit.edu	37	11	67925476	67925476	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:67925476G>A	ENST00000304363.4	-	11	2690	c.2337C>T	c.(2335-2337)atC>atT	p.I779I		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTTTTAGCTGGATTTTTAATT	0.398000													55	216					0	0	0.139131	0	0
TRPV3	162514	broad.mit.edu	37	17	3446814	3446814	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:3446814C>T	ENST00000301365.4	-	5	551	c.420G>A	c.(418-420)gtG>gtA	p.V140V	TRPV3_ENST00000576742.1_Silent_p.V140V|TRPV3_ENST00000572519.1_Silent_p.V140V			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	140						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCTGCAGCTCCACCAGCAACT	0.612000													21	80					0	0	0.055883	0	0
ZNF449	203523	broad.mit.edu	37	X	134481224	134481224	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:134481224C>T	ENST00000339249.4	+	2	321	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ZNF449_ENST00000370760.3_Missense_Mutation_p.P61S|ZNF449_ENST00000370761.3_Missense_Mutation_p.P61S	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	61	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGCTGAAGCCAAAGATGCG	0.507000													5	60					0	0	0.021553	0	0
CSTA	1475	broad.mit.edu	37	3	122056441	122056441	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:122056441G>C	ENST00000479204.1	+	2	145	c.114G>C	c.(112-114)ttG>ttC	p.L38F	CSTA_ENST00000264474.3_Missense_Mutation_p.L38F			P01040	CYTA_HUMAN	cystatin A (stefin A)	38					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		ACGGAAAATTGGAAGCTGTGC	0.338000													25	172					0	0	0.099896	0	0
MNDA	4332	broad.mit.edu	37	1	158813865	158813865	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:158813865C>A	ENST00000368141.4	+	4	784	c.523C>A	c.(523-525)Cta>Ata	p.L175I		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	175					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCATCCCCCACTACCCCAGAC	0.502000													22	175					5.45024e-15	7.93584e-15	0.083992	1	0
ZDHHC1	29800	broad.mit.edu	37	16	67433330	67433330	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:67433330C>A	ENST00000348579.2	-	5	799	c.458G>T	c.(457-459)tGc>tTc	p.C153F		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	153						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GCACTTGTTGCAGGCGCTGCA	0.697000													13	9					6.31663e-08	7.67081e-08	0.132662	1	0
CPAMD8	27151	broad.mit.edu	37	19	17081794	17081794	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:17081794T>C	ENST00000443236.1	-	18	2292	c.2261A>G	c.(2260-2262)cAg>cGg	p.Q754R	CPAMD8_ENST00000388925.4_Silent_p.A496A	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	707						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCACCGTCCTGCCGGTGGTT	0.627000													4	57					0	0	0.009096	0	0
ZNF728	388523	broad.mit.edu	37	19	23170131	23170131	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:23170131C>T	ENST00000594710.1	-	3	350	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TTCACCAGCTCATGTCTCTTC	0.433000													9	49					0	0	0.058154	0	0
TM9SF2	9375	broad.mit.edu	37	13	100191811	100191811	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:100191811G>T	ENST00000376387.4	+	7	1018	c.828_splice	c.e7+1	p.E276_splice		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	276					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTAGCTTCGAGGTGAGTCTGT	0.348000													40	44					1.07637e-12	1.4977e-12	0.074837	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26031997	26031997	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:26031997C>T	ENST00000244661.2	-	1	291	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AAGTAGGCCTCACAAGCCTCC	0.567000													9	62					0	0	0.047766	0	0
LGALS9	3965	broad.mit.edu	37	17	25974419	25974419	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:25974419G>A	ENST00000395473.2	+	10	2350	c.882G>A	c.(880-882)ctG>ctA	p.L294L	LGALS9_ENST00000310394.5_Silent_p.L250L|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000302228.5_Silent_p.L262L|LGALS9_ENST00000413914.2_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	294	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGCGAAGTCTGCCCCGAAAAA	0.597000													3	24					0	0	0.115264	0	0
C20orf26	26074	broad.mit.edu	37	20	20140013	20140013	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:20140013G>T	ENST00000245957.5	+	10	1027		c.e10-1		C20orf26_ENST00000377309.2_Splice_Site|C20orf26_ENST00000451767.2_Splice_Site|C20orf26_ENST00000389656.3_Splice_Site|C20orf26_ENST00000377306.1_Splice_Site	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26											NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATCATTTCCAGGGAAATATTG	0.483000													23	50					5.35356e-11	7.17622e-11	0.076483	1	0
PPARD	5467	broad.mit.edu	37	6	35387970	35387970	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:35387970C>T	ENST00000311565.4	+	5	546	c.197C>T	c.(196-198)tCa>tTa	p.S66L	PPARD_ENST00000360694.3_Missense_Mutation_p.S66L|PPARD_ENST00000444397.1_Missense_Mutation_p.S66L|PPARD_ENST00000448077.2_Missense_Mutation_p.S27L|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000337400.2_Missense_Mutation_p.S66L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	66					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GACGGGGCCTCATGCGGCAGC	0.642000													13	37					0	0	0.093190	0	0
DOK5	55816	broad.mit.edu	37	20	53208316	53208316	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:53208316A>G	ENST00000262593.5	+	5	921	c.571A>G	c.(571-573)Act>Gct	p.T191A	DOK5_ENST00000395939.1_Missense_Mutation_p.T83A	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	191	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TGGACGTGATACTACGTGGTT	0.448000													13	87					0	0	0.105934	0	0
IMMT	10989	broad.mit.edu	37	2	86378434	86378434	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:86378434C>T	ENST00000410111.3	-	12	1774	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	IMMT_ENST00000409051.2_Missense_Mutation_p.E416K|IMMT_ENST00000449247.2_Missense_Mutation_p.E452K|IMMT_ENST00000442664.2_Missense_Mutation_p.E462K|IMMT_ENST00000254636.5_Missense_Mutation_p.E364K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	463						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTCCTGTTCAGCCTGTATT	0.403000													7	46					0	0	0.029380	0	0
ACTN1	87	broad.mit.edu	37	14	69349271	69349271	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:69349271C>A	ENST00000193403.6	-	16	2240	c.1857G>T	c.(1855-1857)acG>acT	p.T619T	ACTN1_ENST00000538545.2_Silent_p.T619T|ACTN1_ENST00000438964.2_Silent_p.T619T|ACTN1_ENST00000394419.4_Silent_p.T619T|ACTN1_ENST00000376839.3_Silent_p.T554T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	619	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	p.T619T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CATGCTCCTCCGTCAGAGCTT	0.607000													11	36					0.00010058	0.000110802	0.093190	1	0
MUC16	94025	broad.mit.edu	37	19	9059705	9059705	+	Silent	SNP	T	T	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:9059705T>G	ENST00000397910.4	-	3	27944	c.27741A>C	c.(27739-27741)acA>acC	p.T9247T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9249	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCCTTTGTTGTCACTGAGT	0.453000													7	105					0	0	0.047766	0	0
SERINC5	256987	broad.mit.edu	37	5	79473874	79473874	+	Missense_Mutation	SNP	C	C	G	rs35959578		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:79473874C>G	ENST00000507668.2	-	3	358	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q	SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512721.1_Missense_Mutation_p.E70Q|SERINC5_ENST00000512972.2_Missense_Mutation_p.E70Q|SERINC5_ENST00000509193.1_Missense_Mutation_p.E70Q	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	70					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CACATATCTTCAAAAAAAGGA	0.428000													3	9					0	0	0.115264	0	0
SPTSSA	171546	broad.mit.edu	37	14	34904443	34904443	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:34904443G>C	ENST00000298130.4	-	2	328	c.180C>G	c.(178-180)atC>atG	p.I60M		NM_138288.3	NP_612145.2	Q969W0	SSPTA_HUMAN	serine palmitoyltransferase, small subunit A	60					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										ATATCGCCATGATGTGCTGGG	0.448000													6	33					0	0	0.038147	0	0
CNDP2	55748	broad.mit.edu	37	18	72183560	72183560	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr18:72183560G>T	ENST00000324262.4	+	9	1317	c.1001G>T	c.(1000-1002)aGg>aTg	p.R334M	CNDP2_ENST00000324301.8_Missense_Mutation_p.R250M|CNDP2_ENST00000579847.1_Missense_Mutation_p.R334M	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	334						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTGATTCCCAGGAAGGTGGTT	0.617000													15	33					6.31663e-08	7.67081e-08	0.132662	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950826	209950826	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:209950826C>A	ENST00000367024.1	+	12	1699	c.1183C>A	c.(1183-1185)Cta>Ata	p.L395I	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.L375I|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.L131I|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.L131I|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.L395I|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.L375I|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.L375I			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	395						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TACCCAGGACCTACAAGGTAC	0.502000													6	46					0.000157383	0.000172944	0.038147	1	0
YWHAB	7529	broad.mit.edu	37	20	43530347	43530347	+	Missense_Mutation	SNP	G	G	T	rs11556823		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:43530347G>T	ENST00000372839.3	+	3	447	c.173G>T	c.(172-174)cGc>cTc	p.R58L	YWHAB_ENST00000353703.4_Missense_Mutation_p.R58L|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	58		Interaction with phosphoserine on interacting protein (By similarity).			activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GGCGCCCGCCGCTCTTCCTGG	0.522000													13	49					1.52009e-12	2.11177e-12	0.132662	1	0
TRBV11-2	28581	broad.mit.edu	37	7	142197829	142197829	+	RNA	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:142197829T>C	ENST00000471935.1	-	0	148																											TCTATAATCTTATATCCGGGA	0.438000													8	42					0	0	0.069234	0	0
PCCA	5095	broad.mit.edu	37	13	101020767	101020767	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:101020767C>T	ENST00000376285.1	+	19	1723	c.1685C>T	c.(1684-1686)tCa>tTa	p.S562L	PCCA_ENST00000376279.3_Missense_Mutation_p.S562L|PCCA_ENST00000376286.4_Missense_Mutation_p.S536L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	562					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGGGAGCTCTCAGTAAAATTG	0.318000													46	51					0	0	0.139131	0	0
BMI1	648	broad.mit.edu	37	10	22616918	22616918	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:22616918A>T	ENST00000376663.3	+	6	861	c.356A>T	c.(355-357)gAt>gTt	p.D119V	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.D262V	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GAGGTTGCAGATGAAGATAAG	0.289000													20	105					0	0	0.076483	0	0
OR2C3	81472	broad.mit.edu	37	1	247695121	247695121	+	Silent	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:247695121T>A	ENST00000366487.3	-	2	1054	c.693A>T	c.(691-693)tcA>tcT	p.S231S	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCCCTTCTGCTGACCTGATCT	0.547000													16	63					0	0	0.043863	0	0
MFN2	9927	broad.mit.edu	37	1	12065890	12065890	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:12065890G>C	ENST00000235329.5	+	15	1940	c.1618G>C	c.(1618-1620)Gac>Cac	p.D540H	MFN2_ENST00000444836.1_Missense_Mutation_p.D540H	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	540					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTTCCAGGAAGACATTGAGTT	0.537000													40	153					0	0	0.098360	0	0
LRCH3	84859	broad.mit.edu	37	3	197562560	197562560	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:197562560A>G	ENST00000438796.2	+	9	1162	c.1118A>G	c.(1117-1119)gAt>gGt	p.D373G	LRCH3_ENST00000334859.4_Missense_Mutation_p.D373G|LRCH3_ENST00000441090.2_Missense_Mutation_p.D247G|LRCH3_ENST00000425562.2_Missense_Mutation_p.D373G|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000414675.2_Missense_Mutation_p.D373G			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	373						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CATGATCTGGATCAGATTGAC	0.458000													6	27					0	0	0.021553	0	0
ZNF337	26152	broad.mit.edu	37	20	25656842	25656842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:25656842G>T	ENST00000376436.1	-	4	1621	c.1082C>A	c.(1081-1083)tCa>tAa	p.S361*	ZNF337_ENST00000252979.5_Nonsense_Mutation_p.S361*|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Nonsense_Mutation_p.S329*|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATAAGGTGTGACTTATTGCT	0.483000													11	66					7.03913e-09	8.87982e-09	0.093190	1	0
AQR	9716	broad.mit.edu	37	15	35168139	35168139	+	Silent	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:35168139T>A	ENST00000156471.5	-	28	3459	c.3234A>T	c.(3232-3234)ctA>ctT	p.L1078L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1078						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTCTTACCTGTAGAAGAAGAG	0.378000													20	79					0	0	0.055883	0	0
CELSR3	1951	broad.mit.edu	37	3	48697267	48697267	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:48697267C>T	ENST00000544264.1	-	1	3081	c.2801G>A	c.(2800-2802)cGg>cAg	p.R934Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.R934Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	934	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCATTGTCCCGAGCTGTGAT	0.512000													6	98					0	0	0.038147	0	0
SSH1	54434	broad.mit.edu	37	12	109205094	109205094	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:109205094T>C	ENST00000326495.5	-	6	505	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.T149A|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Missense_Mutation_p.T138A	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	138					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCCCAATGGTGCAGCTTTTA	0.517000													26	36					0	0	0.125774	0	0
USH2A	7399	broad.mit.edu	37	1	215953373	215953373	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:215953373G>A	ENST00000366943.2	-	55	11137	c.10751C>T	c.(10750-10752)gCt>gTt	p.A3584V	USH2A_ENST00000307340.3_Missense_Mutation_p.A3584V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3584	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGTAGTAGCTGCAACTAC	0.448000										HNSCC(13;0.011)			7	36					0	0	0.029380	0	0
CALD1	800	broad.mit.edu	37	7	134625922	134625922	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:134625922C>A	ENST00000361388.2	+	7	1245	c.779C>A	c.(778-780)aCa>aAa	p.T260K	CALD1_ENST00000417172.1_Missense_Mutation_p.T234K|CALD1_ENST00000361901.2_Missense_Mutation_p.T234K|CALD1_ENST00000422748.1_Missense_Mutation_p.T260K|CALD1_ENST00000495522.1_Missense_Mutation_p.T254K|CALD1_ENST00000424922.1_Missense_Mutation_p.T228K|CALD1_ENST00000361675.2_Missense_Mutation_p.T489K|CALD1_ENST00000543443.1_Missense_Mutation_p.T239K|CALD1_ENST00000393118.2_Missense_Mutation_p.T254K	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	489					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAGGGATTTACAGAAGTTAAG	0.348000													13	59					7.03913e-09	8.87982e-09	0.093190	1	0
CHDC2	286464	broad.mit.edu	37	X	36091256	36091256	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:36091256G>T	ENST00000378660.1	+	4	379	c.190_splice	c.e4-1	p.G64_splice	CHDC2_ENST00000313548.4_Splice_Site_p.G64_splice					calponin homology domain containing 2																		TTAATTTTAGGAGTGGAAGTA	0.338000													13	14					2.27111e-07	2.71667e-07	0.093190	1	0
NCAN	1463	broad.mit.edu	37	19	19338836	19338836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:19338836G>T	ENST00000252575.5	+	8	2450	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.G254*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	803					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGGGAGCCCTGGAGTCTTCTT	0.582000													14	103					9.31168e-06	1.06177e-05	0.105934	1	0
OR5L1	219437	broad.mit.edu	37	11	55579537	55579537	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:55579537C>G	ENST00000333973.2	+	1	684	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGAGACACTGCTGTTCCTGGT	0.448000													37	189					0	0	0.064281	0	0
HSPA8	3312	broad.mit.edu	37	11	122930913	122930913	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:122930913T>C	ENST00000534624.1	-	4	751	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	HSPA8_ENST00000227378.3_Missense_Mutation_p.K159E|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.K159E|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.K159E|HSPA8_ENST00000526110.1_Missense_Mutation_p.K140E	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	159					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCAGCATCTTTGGTAGCCTGA	0.413000													23	63					0	0	0.076483	0	0
SLC5A4	6527	broad.mit.edu	37	22	32643456	32643456	+	Missense_Mutation	SNP	C	C	G	rs149549098	by1000genomes	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:32643456C>G	ENST00000266086.4	-	5	430	c.419G>C	c.(418-420)cGa>cCa	p.R140P	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	140					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACCTGGAGTCGCTCCCCACC	0.502000													5	29					0	0	0.014758	0	0
PRRC2C	23215	broad.mit.edu	37	1	171486792	171486792	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:171486792G>A	ENST00000367742.3	+	6	831	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PRRC2C_ENST00000338920.4_Missense_Mutation_p.E195K|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E197K|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E195K			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	195							protein C-terminus binding										TGATCAAGATGAAAAGCTCCC	0.453000													4	89					0	0	0.029380	0	0
CNDP2	55748	broad.mit.edu	37	18	72183561	72183561	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr18:72183561G>T	ENST00000324262.4	+	9	1318	c.1002G>T	c.(1000-1002)agG>agT	p.R334S	CNDP2_ENST00000324301.8_Missense_Mutation_p.R250S|CNDP2_ENST00000579847.1_Missense_Mutation_p.R334S	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	334						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGATTCCCAGGAAGGTGGTTG	0.617000													15	33					6.31663e-08	7.67081e-08	0.132662	1	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	A	rs121913358		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:140481402C>A	ENST00000288602.6	-	11	1466	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		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.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	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)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	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				76	111					2.17451e-35	3.54874e-35	0.139131	1	0
DIO1	1733	broad.mit.edu	37	1	54371895	54371895	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:54371895C>A	ENST00000361921.3	+	3	633	c.609C>A	c.(607-609)aaC>aaA	p.N203K	DIO1_ENST00000388876.3_Missense_Mutation_p.N155K|DIO1_ENST00000322679.6_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.N139K|DIO1_ENST00000524406.1_Missense_Mutation_p.N74K|DIO1_ENST00000532493.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	203					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CCATGCAGAACCAGAGCAGCC	0.607000													7	21					0.0293803	0.0304197	0.029380	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19716293	19716293	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr21:19716293T>A	ENST00000284885.3	-	11	1289	c.1256A>T	c.(1255-1257)gAg>gTg	p.E419V		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	419	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAAGCTGGCTCCAAAGTGGG	0.448000													23	93					0	0	0.083992	0	0
TTC27	55622	broad.mit.edu	37	2	33037582	33037582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:33037582C>A	ENST00000317907.4	+	18	2439	c.2208C>A	c.(2206-2208)tgC>tgA	p.C736*		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	736							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CATTCCAGTGCCTCTCAAAGG	0.398000													27	119					7.41945e-09	9.33278e-09	0.108266	1	0
LTBP1	4052	broad.mit.edu	37	2	33589305	33589305	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:33589305C>T	ENST00000404816.2	+	30	4775	c.4422C>T	c.(4420-4422)ccC>ccT	p.P1474P	LTBP1_ENST00000272273.5_Silent_p.P372P|LTBP1_ENST00000407925.1_Silent_p.P1148P|LTBP1_ENST00000354476.3_Silent_p.P1475P|LTBP1_ENST00000418533.2_Silent_p.P1106P|LTBP1_ENST00000402934.1_Silent_p.P1093P|LTBP1_ENST00000390003.4_Silent_p.P1149P|LTBP1_ENST00000404525.1_Silent_p.P1095P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1474	EGF-like 16; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTCAAGACCCCAGTAGTTGTA	0.393000													48	84					0	0	0.139131	0	0
PFAS	5198	broad.mit.edu	37	17	8169275	8169275	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:8169275G>T	ENST00000314666.6	+	21	2774	c.2641G>T	c.(2641-2643)Gac>Tac	p.D881Y	PFAS_ENST00000545834.1_Missense_Mutation_p.D457Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	881					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACACCCTCCAGACCTGGACCT	0.637000													16	18					6.49762e-13	9.05541e-13	0.038395	1	0
ATRX	546	broad.mit.edu	37	X	76854925	76854925	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:76854925C>A	ENST00000373344.5	-	25	6125	c.5911G>T	c.(5911-5913)Gat>Tat	p.D1971Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1933Y	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1971					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTGTTTCATCCACATTTCCT	0.383000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						144	80					1.73106e-74	2.90607e-74	0.139131	1	0
RRBP1	6238	broad.mit.edu	37	20	17608196	17608196	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:17608196C>G	ENST00000377813.1	-	10	3184	c.2881G>C	c.(2881-2883)Gag>Cag	p.E961Q	RRBP1_ENST00000455029.2_Missense_Mutation_p.E302Q|RRBP1_ENST00000360807.4_Missense_Mutation_p.E528Q|RRBP1_ENST00000377807.2_Missense_Mutation_p.E528Q|RRBP1_ENST00000246043.4_Missense_Mutation_p.E961Q			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	961					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGCAGGGCCTCAATGGAACGG	0.662000													9	41					0	0	0.058154	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329807	21329807	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:21329807G>C	ENST00000256958.2	+	5	553	c.457G>C	c.(457-459)Gca>Cca	p.A153P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	153					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTCAATAGAGCATCACCTGA	0.274000													12	63					0	0	0.119110	0	0
HDAC5	10014	broad.mit.edu	37	17	42169194	42169194	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:42169194G>A	ENST00000225983.6	-	10	1364	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	HDAC5_ENST00000393622.2_Silent_p.L346L|HDAC5_ENST00000336057.5_Silent_p.L346L|HDAC5_ENST00000586802.1_Silent_p.L346L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	346					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGTGCTGAGGGAGCATCTGGG	0.612000													7	52					0	0	0.047766	0	0
TSSK6	83983	broad.mit.edu	37	19	19625531	19625531	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:19625531G>C	ENST00000360913.3	-	1	1307	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	TSSK6_ENST00000585580.3_Missense_Mutation_p.L236V			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	236	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CGCTCGGACAGCTCGAGGCCT	0.706000													6	75					0	0	0.038147	0	0
OR13A1	79290	broad.mit.edu	37	10	45799070	45799070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:45799070G>T	ENST00000553795.1	-	4	1109	c.801C>A	c.(799-801)tgC>tgA	p.C267*	OR13A1_ENST00000374401.2_Nonsense_Mutation_p.C267*|OR13A1_ENST00000536058.1_Nonsense_Mutation_p.C267*	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGTAATACATGCACACCACGG	0.572000													19	34					1.01871e-10	1.3552e-10	0.049695	1	0
KCNQ2	3785	broad.mit.edu	37	20	62038269	62038269	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:62038269C>A	ENST00000354587.3	-	17	2547	c.2371G>T	c.(2371-2373)Gac>Tac	p.D791Y	KCNQ2_ENST00000357249.2_Missense_Mutation_p.D765Y|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D783Y|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D783Y|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D779Y|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D753Y|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D755Y|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D791Y|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D752Y			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	783					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGTCGCTGTCCCGCAGGTTC	0.687000													6	6					0.0293803	0.0304197	0.029380	1	0
NPR3	4883	broad.mit.edu	37	5	32724853	32724853	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:32724853G>T	ENST00000265074.8	+	2	1162	c.819G>T	c.(817-819)gtG>gtT	p.V273V	NPR3_ENST00000415685.2_Silent_p.V57V|NPR3_ENST00000434067.2_Silent_p.V57V|NPR3_ENST00000415167.2_Silent_p.V273V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	273					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCATGCTGGTGGCGCACAGGC	0.532000													28	37					1.61788e-16	2.41171e-16	0.050027	1	0
NCAM1	4684	broad.mit.edu	37	11	113103504	113103504	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:113103504A>G	ENST00000316851.7	+	11	1460	c.1460A>G	c.(1459-1461)cAg>cGg	p.Q487R	NCAM1_ENST00000533760.1_Missense_Mutation_p.Q369R|NCAM1_ENST00000401611.2_Missense_Mutation_p.Q496R|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	497	Ig-like C2-type 5.				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)		CGCATTGGGCAGGAGTCCTTG	0.507000													10	37					0	0	0.093190	0	0
GLI3	2737	broad.mit.edu	37	7	42064874	42064874	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:42064874G>A	ENST00000395925.3	-	9	1429	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	449					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGCTGCCCCCGAGCCCCTGGG	0.637000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				12	66					0	0	0.093190	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934719	186934719	+	Silent	SNP	G	G	T	rs34758865	byFrequency	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:186934719G>T	ENST00000367466.3	+	15	1910	c.1758G>T	c.(1756-1758)ccG>ccT	p.P586P	PLA2G4A_ENST00000442353.2_Silent_p.P526P	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	586	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CTAGTCCTCCGTTCAAGGTAA	0.428000													64	107					1.79293e-35	2.93693e-35	0.139131	1	0
TLR4	7099	broad.mit.edu	37	9	120476816	120476816	+	Missense_Mutation	SNP	C	C	G	rs55786277	byFrequency	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:120476816C>G	ENST00000355622.6	+	3	2511	c.2410C>G	c.(2410-2412)Cgg>Ggg	p.R804G	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.R764G	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	804	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGTCCTGGGGCGGCACATCTT	0.557000													12	105					0	0	0.105934	0	0
GEN1	348654	broad.mit.edu	37	2	17955606	17955606	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:17955606C>T	ENST00000381254.2	+	11	1354	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	GEN1_ENST00000317402.7_Silent_p.T380T|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	380					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTTTTGACCCATTATGACA	0.328000								Homologous recombination					5	170					0	0	0.014758	0	0
MYH2	4620	broad.mit.edu	37	17	10426411	10426411	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:10426411T>A	ENST00000245503.5	-	39	6053	c.5669A>T	c.(5668-5670)gAg>gTg	p.E1890V	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1890V|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1890					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACTTACAGCCTCCTCAGCTTG	0.333000													9	47					0	0	0.058154	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88870417	88870417	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:88870417G>T	ENST00000303236.3	-	14	3261	c.2960C>A	c.(2959-2961)aCc>aAc	p.T987N	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.T836N	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	987	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATACAGTTTGGTCCCTACTTG	0.468000													17	77					9.16793e-09	1.14501e-08	0.033300	1	0
ABHD3	171586	broad.mit.edu	37	18	19239163	19239163	+	Silent	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr18:19239163A>G	ENST00000578270.1	-	5	1165	c.225T>C	c.(223-225)taT>taC	p.Y75Y	ABHD3_ENST00000580981.1_Silent_p.Y217Y|ABHD3_ENST00000289119.2_Silent_p.Y270Y			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	270						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						AGGTTGTCAAATAGTAATTAA	0.473000													59	56					0	0	0.139131	0	0
SYNE3	161176	broad.mit.edu	37	14	95934283	95934283	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:95934283C>T	ENST00000334258.5	-	2	180	c.166G>A	c.(166-168)Gag>Aag	p.E56K	SYNE3_ENST00000557275.1_Missense_Mutation_p.E56K|SYNE3_ENST00000553340.1_Missense_Mutation_p.E56K	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						ACACGCCCCTCGGGCTCCAGC	0.602000													11	19					0	0	0.119110	0	0
TNIK	23043	broad.mit.edu	37	3	170846593	170846593	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:170846593G>T	ENST00000436636.2	-	16	2027	c.1683C>A	c.(1681-1683)gaC>gaA	p.D561E	TNIK_ENST00000369326.5_Missense_Mutation_p.D532E|TNIK_ENST00000284483.8_Missense_Mutation_p.D561E|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000357327.5_Missense_Mutation_p.D532E|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Missense_Mutation_p.D532E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	561	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCAGGTTGGGGTCAGATATCC	0.522000													4	11					0.000602214	0.000647971	0.014758	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140710553	140710553	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:140710553C>A	ENST00000517417.1	+	1	302	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P101Q	NM_018912.2	NP_061735.1												p.P101L(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCATGCCGTGTCTCGTG	0.468000													39	111					2.40228e-13	3.38013e-13	0.131918	1	0
TTN	7273	broad.mit.edu	37	2	179549432	179549432	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:179549432G>T	ENST00000589042.1	-	131	32823	c.32599C>A	c.(32599-32601)Cca>Aca	p.P10867T	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10550T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9623T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10550	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGACTTTTGGAGGAACCTTT	0.408000													20	25					1.1804e-14	1.71021e-14	0.091800	1	0
LOC647264	647264	broad.mit.edu	37	13	64321150	64321150	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:64321150G>T	ENST00000453638.2	+	1	217	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C															p.G73C(2)		endometrium(2)|lung(1)|urinary_tract(1)	4						ctgtggctatggctctggcta	0.567000													7	14					1.06961e-07	1.29e-07	0.038147	1	0
KALRN	8997	broad.mit.edu	37	3	124153322	124153322	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:124153322C>A	ENST00000360013.3	+	17	3119	c.2992C>A	c.(2992-2994)Cgg>Agg	p.R998R	KALRN_ENST00000240874.3_Silent_p.R998R|KALRN_ENST00000460856.1_Silent_p.R989R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	998					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATGGAAGACCGGCTAAAATT	0.572000													7	44					8.12818e-05	8.97679e-05	0.029380	1	0
LRRC28	123355	broad.mit.edu	37	15	99874294	99874294	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:99874294G>T	ENST00000301981.3	+	6	792	c.552G>T	c.(550-552)gaG>gaT	p.E184D	LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Missense_Mutation_p.E184D|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	184										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GCCTCAATGAGCTCTCCATGG	0.478000													27	36					1.16021e-09	1.49145e-09	0.125774	1	0
THNSL2	55258	broad.mit.edu	37	2	88474921	88474921	+	Splice_Site	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:88474921G>T	ENST00000324166.5	+	3	2262		c.e3+1		THNSL2_ENST00000449349.1_Splice_Site|THNSL2_ENST00000496844.1_Splice_Site|THNSL2_ENST00000402102.1_Splice_Site|THNSL2_ENST00000358591.2_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)						threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GTGTTTGGAGGTGTGTGCTGA	0.502000													10	39					2.80697e-09	3.58216e-09	0.080935	1	0
DNAJC14	85406	broad.mit.edu	37	12	56222273	56222273	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:56222273G>C	ENST00000357606.3	-	3	459	c.170C>G	c.(169-171)tCt>tGt	p.S57C	DNAJC14_ENST00000317269.3_Missense_Mutation_p.S57C|DNAJC14_ENST00000317287.5_Missense_Mutation_p.S57C			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	57					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTTAGGACCAGAGTGCTCTGT	0.587000													24	109					0	0	0.076483	0	0
MOV10L1	54456	broad.mit.edu	37	22	50555689	50555689	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:50555689G>T	ENST00000262794.5	+	9	1446	c.1363G>T	c.(1363-1365)Gct>Tct	p.A455S	MOV10L1_ENST00000395858.3_Missense_Mutation_p.A455S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A455S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A435S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	455					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTCACTAATTGCTGCGCGCGA	0.443000													15	56					2.32078e-09	2.97033e-09	0.132662	1	0
MAD2L2	10459	broad.mit.edu	37	1	11736959	11736959	+	Missense_Mutation	SNP	C	C	G	rs151024263	byFrequency	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:11736959C>G	ENST00000235310.3	-	7	1206	c.278G>C	c.(277-279)cGc>cCc	p.R93P	MAD2L2_ENST00000376667.3_Missense_Mutation_p.R93P|MAD2L2_ENST00000376669.5_Missense_Mutation_p.R93P|MAD2L2_ENST00000376692.4_Missense_Mutation_p.R93P|MAD2L2_ENST00000376672.1_Missense_Mutation_p.R93P			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	93	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCACTGGGCGGTGCTCTTT	0.582000								DNA polymerases (catalytic subunits)					7	32					0	0	0.038147	0	0
NTS	4922	broad.mit.edu	37	12	86276113	86276113	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:86276113G>T	ENST00000256010.6	+	4	580	c.473G>T	c.(472-474)aGa>aTa	p.R158I	NTS_ENST00000551529.1_Missense_Mutation_p.R83I	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	158					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						AATAAACCCAGAAGACCCTAC	0.303000													37	60					1.59361e-14	2.29752e-14	0.092188	1	0
SUV420H1	51111	broad.mit.edu	37	11	67926066	67926066	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:67926066G>C	ENST00000304363.4	-	11	2100	c.1747C>G	c.(1747-1749)Cct>Gct	p.P583A		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAGCACAGGAGCTGGCTGC	0.507000													16	105					0	0	0.033300	0	0
PRAP1	118471	broad.mit.edu	37	10	135165619	135165619	+	Splice_Site	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:135165619T>C	ENST00000458230.1	+	4	313		c.e4+2		PRAP1_ENST00000423766.1_Silent_p.G80G|ZNF511_ENST00000368554.4_Silent_p.G238G|PRAP1_ENST00000433452.2_Silent_p.G79G|PRAP1_ENST00000463201.1_Splice_Site	NM_001145201.1	NP_001138673.1			proline-rich acidic protein 1									p.G79G(1)		large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		AGCCACGAGGTCAGGGCAGGG	0.627000													14	44					0	0	0.038395	0	0
PPM1L	151742	broad.mit.edu	37	3	160783226	160783226	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:160783226G>T	ENST00000498165.1	+	3	711	c.610G>T	c.(610-612)Gac>Tac	p.D204Y	PPM1L_ENST00000295839.9_Missense_Mutation_p.D77Y|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.D25Y	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	204	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATCAGATAAAGACCTCACTGT	0.493000													47	60					2.01872e-29	3.25815e-29	0.139131	1	0
ASH1L	55870	broad.mit.edu	37	1	155365329	155365329	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:155365329C>G	ENST00000368346.3	-	7	6663	c.6024G>C	c.(6022-6024)ttG>ttC	p.L2008F	ASH1L_ENST00000392403.3_Missense_Mutation_p.L2008F			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2008					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTAATTGGATCAATCGACTCT	0.403000													14	84					0	0	0.105934	0	0
C1orf101	257044	broad.mit.edu	37	1	244715699	244715699	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:244715699G>T	ENST00000366534.4	+	9	666	c.612G>T	c.(610-612)caG>caT	p.Q204H	C1orf101_ENST00000366533.4_Missense_Mutation_p.Q204H|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.Q53H	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	204						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTACTTTTCAGGATTGCTTTA	0.373000													33	91					7.11191e-15	1.03211e-14	0.054565	1	0
CLIP4	79745	broad.mit.edu	37	2	29404464	29404464	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:29404464G>T	ENST00000320081.5	+	16	2078	c.1823G>T	c.(1822-1824)tGg>tTg	p.W608L	CLIP4_ENST00000481628.1_3'UTR|CLIP4_ENST00000404424.1_Missense_Mutation_p.W608L|CLIP4_ENST00000401617.2_Missense_Mutation_p.W501L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	608										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CGTCGCAGTTGGAGCAGCACC	0.522000													24	33					3.65163e-15	5.34355e-15	0.116897	1	0
CSMD2	114784	broad.mit.edu	37	1	34180301	34180301	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:34180301C>A	ENST00000373381.4	-	21	3468	c.3292G>T	c.(3292-3294)Ggc>Tgc	p.G1098C		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1058	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGGTGTCGCCCACGCCAAAC	0.662000													20	72					5.35267e-07	6.35087e-07	0.043863	1	0
FBXO16	157574	broad.mit.edu	37	8	28309952	28309952	+	Silent	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:28309952T>C	ENST00000380254.2	-	6	697	c.549A>G	c.(547-549)ctA>ctG	p.L183L	FBXO16_ENST00000346498.2_Silent_p.L171L|FBXO16_ENST00000517436.1_Intron|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000518734.1_Silent_p.L171L|RP11-181B11.2_ENST00000523935.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	183										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGCTTGTAACTAGTTGAACGT	0.418000													82	38					0	0	0.139131	0	0
LIPN	643418	broad.mit.edu	37	10	90537893	90537893	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:90537893A>T	ENST00000404459.1	+	9	1091	c.1091A>T	c.(1090-1092)tAc>tTc	p.Y364F		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	364					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		AGTCTTCATTACTTTAAGCTA	0.463000													19	25					0	0	0.038395	0	0
ABTB1	80325	broad.mit.edu	37	3	127399219	127399219	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:127399219C>G	ENST00000468137.1	+	11	1528	c.912C>G	c.(910-912)caC>caG	p.H304Q	ABTB1_ENST00000453791.2_Missense_Mutation_p.H304Q|ABTB1_ENST00000393363.3_Missense_Mutation_p.H304Q|ABTB1_ENST00000232744.8_Missense_Mutation_p.H446Q			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	446	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TCCGCTTCCACGTGGCCAGCA	0.662000													5	7					0	0	0.014758	0	0
NALCN	259232	broad.mit.edu	37	13	102051452	102051452	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:102051452C>T	ENST00000251127.6	-	2	107	c.26G>A	c.(25-27)aGg>aAg	p.R9K	NALCN_ENST00000376196.3_Missense_Mutation_p.R9K|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.R9K	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	9						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCTTCCACCCTGGAACTCTG	0.453000													21	32					0	0	0.076483	0	0
MARK2	2011	broad.mit.edu	37	11	63676622	63676622	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:63676622C>T	ENST00000402010.2	+	19	2859	c.2280C>T	c.(2278-2280)ctC>ctT	p.L760L	MARK2_ENST00000513765.2_Silent_p.L727L|MARK2_ENST00000425897.2_Silent_p.L671L|MARK2_ENST00000413835.2_Silent_p.L706L|MARK2_ENST00000361128.5_Silent_p.L691L|MARK2_ENST00000315032.8_Silent_p.L751L|MARK2_ENST00000377810.3_Silent_p.L663L|MARK2_ENST00000350490.7_Silent_p.L681L|MARK2_ENST00000508192.1_Silent_p.L696L|MARK2_ENST00000408948.3_Silent_p.L663L|MARK2_ENST00000377809.4_Silent_p.L745L|MARK2_ENST00000509502.2_Silent_p.L717L|MARK2_ENST00000502399.3_Silent_p.L750L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	760	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCTCTCTCTCAACGGGGTTC	0.557000													13	75					0	0	0.105934	0	0
ZNF786	136051	broad.mit.edu	37	7	148768940	148768940	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:148768940C>A	ENST00000316286.9	-	3	938	c.666G>T	c.(664-666)gtG>gtT	p.V222V	ZNF786_ENST00000491431.1_Silent_p.V308V|ZNF786_ENST00000451334.3_Silent_p.V271V			Q8N393	ZN786_HUMAN	zinc finger protein 786	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCGTGCTGTCCACTGGGAGGG	0.701000													8	26					3.09899e-07	3.68687e-07	0.047766	1	0
FSHB	2488	broad.mit.edu	37	11	30253482	30253482	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:30253482T>A	ENST00000417547.1	+	2	72	c.33T>A	c.(31-33)tgT>tgA	p.C11*	FSHB_ENST00000254122.3_Nonsense_Mutation_p.C11*|FSHB_ENST00000533718.1_Nonsense_Mutation_p.C11*	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	11					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	TCCTTTTCTGTTGCTGGAAAG	0.413000													34	33					0	0	0.069456	0	0
LAMA4	3910	broad.mit.edu	37	6	112506471	112506471	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:112506471G>T	ENST00000230538.7	-	9	1442	c.1045C>A	c.(1045-1047)Ctt>Att	p.L349I	LAMA4_ENST00000424408.2_Missense_Mutation_p.L342I|LAMA4_ENST00000522006.1_Missense_Mutation_p.L342I|LAMA4_ENST00000389463.4_Missense_Mutation_p.L342I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	349	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCAGACAGAAGGCTTTTCATC	0.398000													48	88					1.88225e-35	3.0775e-35	0.139131	1	0
BAGE2	85319	broad.mit.edu	37	21	11049622	11049622	+	RNA	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr21:11049622C>G	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTTCCTTCGCTATAATTAAC	0.368000													7	229					0	0	0.038147	0	0
HCK	3055	broad.mit.edu	37	20	30681810	30681810	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:30681810G>A	ENST00000534862.1	+	12	1540	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	HCK_ENST00000518730.1_Missense_Mutation_p.A391T|HCK_ENST00000520553.1_Missense_Mutation_p.A392T|HCK_ENST00000375852.2_Missense_Mutation_p.A413T|HCK_ENST00000538448.1_Missense_Mutation_p.A392T|HCK_ENST00000375862.2_Missense_Mutation_p.A412T	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	413	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGAGTACACGGCTCGGGAAGG	0.547000													11	90					0	0	0.093190	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760347	102760347	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:102760347C>T	ENST00000417955.1	-	3	772	c.618G>A	c.(616-618)gaG>gaA	p.E206E	NAPEPLD_ENST00000427257.1_Silent_p.E206E|NAPEPLD_ENST00000455523.2_Silent_p.E279E|NAPEPLD_ENST00000465647.1_Silent_p.E206E|NAPEPLD_ENST00000341533.4_Silent_p.E206E			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	206					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCATCTCAACTCATTACCAA	0.463000													56	77					0	0	0.139131	0	0
ANAPC5	51433	broad.mit.edu	37	12	121747580	121747580	+	Silent	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:121747580T>C	ENST00000261819.3	-	16	2101	c.1980A>G	c.(1978-1980)aaA>aaG	p.K660K	ANAPC5_ENST00000441917.2_Silent_p.K548K|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.K647K|ANAPC5_ENST00000535482.1_Silent_p.K326K|ANAPC5_ENST00000344395.4_Silent_p.K548K	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	660					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGCACGACCTTTGTCCAGGA	0.512000													16	34					0	0	0.146539	0	0
LMCD1	29995	broad.mit.edu	37	3	8579062	8579062	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:8579062G>T	ENST00000157600.3	+	3	555	c.323G>T	c.(322-324)gGg>gTg	p.G108V	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Missense_Mutation_p.G35V|LMCD1_ENST00000535732.1_Missense_Mutation_p.G108V|LMCD1_ENST00000397386.3_Intron	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	108	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ATTGCTACTGGGAAAGATCCC	0.532000													34	164					2.19358e-23	3.46396e-23	0.080422	1	0
NMD3	51068	broad.mit.edu	37	3	160952997	160952997	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:160952997C>T	ENST00000460469.1	+	6	1029	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	NMD3_ENST00000472947.1_Missense_Mutation_p.H192Y|NMD3_ENST00000351193.2_Missense_Mutation_p.H192Y|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	192					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CAAAGAGATTCATGGTGAGTT	0.264000													30	31					0	0	0.054565	0	0
DST	667	broad.mit.edu	37	6	56417415	56417415	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:56417415C>G	ENST00000370754.5	-	61	16081	c.16082G>C	c.(16081-16083)cGa>cCa	p.R5361P	DST_ENST00000244364.6_Missense_Mutation_p.R2769P|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R4857P|DST_ENST00000370769.4_Missense_Mutation_p.R5183P|DST_ENST00000421834.2_Missense_Mutation_p.R3095P|DST_ENST00000361203.3_Missense_Mutation_p.R5181P|DST_ENST00000370788.2_Missense_Mutation_p.R3095P			Q03001	DYST_HUMAN	dystonin	5181					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAACATTTCTCGAATGGTATT	0.413000													10	33					0	0	0.093190	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508850	106508850	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:106508850G>C	ENST00000359195.3	+	2	1154	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V282L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V282L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	282					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGAGTACCTGGTGGGCGAAAC	0.547000													19	24					0	0	0.049695	0	0
GAD2	2572	broad.mit.edu	37	10	26534862	26534862	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:26534862C>T	ENST00000376261.3	+	8	1356	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	GAD2_ENST00000259271.3_Missense_Mutation_p.L285F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	285					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCATTTTTCTCTCAAGAAGGG	0.388000													5	41					0	0	0.021553	0	0
TRIOBP	11078	broad.mit.edu	37	22	38122386	38122386	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:38122386G>T	ENST00000406386.3	+	7	4078	c.3823G>T	c.(3823-3825)Gac>Tac	p.D1275Y	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1275					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGTGCTGGCCGACCTGCCCCC	0.726000													7	8					2.0095e-06	2.3619e-06	0.029380	1	0
SMYD1	150572	broad.mit.edu	37	2	88390543	88390543	+	Missense_Mutation	SNP	G	G	C	rs143639398	by1000genomes	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:88390543G>C	ENST00000419482.2	+	4	626	c.541G>C	c.(541-543)Ggt>Cgt	p.G181R	SMYD1_ENST00000444564.2_Missense_Mutation_p.G181R|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	181	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TAACTGCAACGGTTTTACTCT	0.493000													35	159					0	0	0.069456	0	0
HARS2	23438	broad.mit.edu	37	5	140076793	140076793	+	Silent	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:140076793A>G	ENST00000230771.3	+	10	1222	c.999A>G	c.(997-999)acA>acG	p.T333T	HARS2_ENST00000508522.1_Silent_p.T308T|HARS2_ENST00000448069.2_Silent_p.T161T|HARS2_ENST00000437649.2_Silent_p.T259T|HARS2_ENST00000435019.2_Silent_p.T293T|HARS2_ENST00000432671.2_Silent_p.T219T	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	333					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACTATACAGGAGTGATCT	0.582000													19	58					0	0	0.043863	0	0
TMTC3	160418	broad.mit.edu	37	12	88586450	88586450	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:88586450G>T	ENST00000266712.6	+	13	1996	c.1776G>T	c.(1774-1776)ctG>ctT	p.L592L		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	592						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CACTAGAGCTGGACAGAAATA	0.338000													21	73					7.41877e-09	9.33278e-09	0.062417	1	0
HOXA9	3205	broad.mit.edu	37	7	27204733	27204733	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:27204733G>C	ENST00000343483.6	-	1	416	c.344C>G	c.(343-345)aCg>aGg	p.T115R	RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000396345.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	115							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CGCACCGGGCGTGGGCTCCAG	0.692000			T	"""NUP98, MSI2"""	AML*								6	21					0	0	0.021553	0	0
OR2L2	26246	broad.mit.edu	37	1	248202347	248202347	+	Missense_Mutation	SNP	C	C	A	rs143360089		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:248202347C>A	ENST00000366479.2	+	1	874	c.778C>A	c.(778-780)Cgt>Agt	p.R260S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TACCTATGTACGTCCAAGATC	0.493000													16	110					9.16793e-09	1.14501e-08	0.033300	1	0
EPHB1	2047	broad.mit.edu	37	3	134851696	134851696	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:134851696C>T	ENST00000398015.3	+	5	1472	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	368	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCAGACCGCCGGAGCTGCTC	0.622000													4	27					0	0	0.009096	0	0
PLCE1	51196	broad.mit.edu	37	10	96058404	96058404	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:96058404G>T	ENST00000260766.3	+	24	6070	c.5436G>T	c.(5434-5436)gtG>gtT	p.V1812V	PLCE1_ENST00000371380.2_Silent_p.V1812V|PLCE1_ENST00000371385.3_Silent_p.V1504V|PLCE1_ENST00000371375.1_Silent_p.V1504V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1812	PI-PLC Y-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TACAGCTTGTGGCACTCAACT	0.517000													19	92					3.5997e-14	5.14745e-14	0.069288	1	0
P2RY8	286530	broad.mit.edu	37	X	1584585	1584585	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:1584585G>A	ENST00000381297.4	-	2	1077	c.867C>T	c.(865-867)gaC>gaT	p.D289D		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	289						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAACAAACGGGTCCAGACAGT	0.602000			T	CRLF2	"""B-ALL, Downs associated ALL"""								10	24					0	0	0.093190	0	0
TTN	7273	broad.mit.edu	37	2	179574401	179574401	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:179574401A>T	ENST00000589042.1	-	99	28869	c.28645T>A	c.(28645-28647)Tta>Ata	p.L9549I	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L9232I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8305I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9232							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGCACTAACGTGTTGTTC	0.438000													32	43					0	0	0.054565	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280500	68280500	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:68280500C>G	ENST00000433211.1	-	11	1580	c.1406G>C	c.(1405-1407)aGa>aCa	p.R469T	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R469T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	469					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTTTTGGGTCTTGCAGCCAA	0.398000													30	137					0	0	0.125774	0	0
PDE2A	5138	broad.mit.edu	37	11	72297129	72297129	+	Silent	SNP	G	G	C	rs149180422		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:72297129G>C	ENST00000334456.5	-	14	1412	c.1167C>G	c.(1165-1167)ctC>ctG	p.L389L	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.L380L|PDE2A_ENST00000540345.1_Silent_p.L380L|PDE2A_ENST00000544570.1_Silent_p.L382L|PDE2A_ENST00000418754.2_Silent_p.L274L|PDE2A_ENST00000376450.3_Silent_p.L133L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	389					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ACTCACACTTGAGTTTCTGTT	0.582000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	0.021553	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331207	82331207	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:82331207T>C	ENST00000339284.2	+	3	798	c.368T>C	c.(367-369)aTc>aCc	p.I123T	SH2D4B_ENST00000470604.2_Missense_Mutation_p.I122T|SH2D4B_ENST00000313455.4_Missense_Mutation_p.I74T	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	122	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAGGCAGAGATCACCAAGAAG	0.483000													7	31					0	0	0.058154	0	0
OR51L1	119682	broad.mit.edu	37	11	5020910	5020910	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:5020910G>T	ENST00000321543.1	+	1	698	c.698G>T	c.(697-699)cGt>cTt	p.R233L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGCATCTCGTGAAGAGCAG	0.418000													25	32					4.7796e-09	6.07307e-09	0.099896	1	0
KY	339855	broad.mit.edu	37	3	134338108	134338108	+	Splice_Site	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:134338108C>G	ENST00000508956.1	-	7	587		c.e7-1		KY_ENST00000503669.1_Splice_Site|KY_ENST00000423778.2_Splice_Site|KY_ENST00000508041.1_Splice_Site			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase							cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ATGTCATACTCTATAGGGCAG	0.582000													14	85					0	0	0.119110	0	0
RHBDD1	84236	broad.mit.edu	37	2	227729706	227729706	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:227729706G>T	ENST00000392062.2	+	4	821	c.297G>T	c.(295-297)ctG>ctT	p.L99L	RHBDD1_ENST00000341329.3_Silent_p.L99L	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	99						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		AAAGAAGACTGGGAAGTAGAT	0.418000													81	87					5.00163e-47	8.30139e-47	0.139131	1	0
NTRK2	4915	broad.mit.edu	37	9	87339228	87339228	+	Silent	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:87339228T>C	ENST00000304053.6	+	8	1293	c.810T>C	c.(808-810)aaT>aaC	p.N270N	NTRK2_ENST00000376214.1_Silent_p.N270N|NTRK2_ENST00000359847.3_Silent_p.N270N|NTRK2_ENST00000376208.1_Silent_p.N270N|NTRK2_ENST00000395866.2_Silent_p.N114N|NTRK2_ENST00000376213.1_Silent_p.N270N|NTRK2_ENST00000277120.3_Silent_p.N270N|NTRK2_ENST00000395882.1_Silent_p.N270N|NTRK2_ENST00000323115.4_Silent_p.N270N	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	270	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGGCGGAAAATCTTGTAGGAG	0.418000										TSP Lung(25;0.17)			37	130					0	0	0.080422	0	0
F8	2157	broad.mit.edu	37	X	154182272	154182272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:154182272C>A	ENST00000360256.4	-	12	1998	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	600	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTCGGTTCTCATCAAATACA	0.418000													44	132					1.61863e-15	2.39252e-15	0.139131	1	0
RAB37	326624	broad.mit.edu	37	17	72737000	72737000	+	Missense_Mutation	SNP	G	G	T	rs140394994		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:72737000G>T	ENST00000392610.1	+	2	228	c.187G>T	c.(187-189)Gtc>Ttc	p.V63F	RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.V68F|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000528438.1_Missense_Mutation_p.V36F|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392613.5_Missense_Mutation_p.V63F|RAB37_ENST00000340415.3_Intron			Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	63					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CATAGCCACCGTCGGCATAGA	0.597000													67	129					1.17004e-41	1.93101e-41	0.139131	1	0
DSCAML1	57453	broad.mit.edu	37	11	117329506	117329506	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:117329506G>T	ENST00000321322.6	-	19	3713	c.3712C>A	c.(3712-3714)Cgc>Agc	p.R1238S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R968S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1178	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACACTGCTGCGTACGCCGTCC	0.657000													7	19					8.12818e-05	8.97679e-05	0.029380	1	0
PGBD2	267002	broad.mit.edu	37	1	249211209	249211209	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:249211209G>T	ENST00000539153.1	+	4	672	c.417G>T	c.(415-417)gtG>gtT	p.V139V	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Silent_p.V142V			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	142										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAGTCCCGTGGGCCTTTTTG	0.403000													72	102					1.15413e-51	1.91917e-51	0.139131	1	0
NXF4	55999	broad.mit.edu	37	X	101817581	101817581	+	RNA	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:101817581G>A	ENST00000360035.2	+	0	507					NR_002216.1															endometrium(2)|lung(8)	10						TCAATCCAGAGCCATTGCAGT	0.473000													9	7					0	0	0.080935	0	0
KIAA0753	9851	broad.mit.edu	37	17	6524186	6524186	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:6524186C>G	ENST00000361413.3	-	7	1595	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	KIAA0753_ENST00000542606.1_Missense_Mutation_p.E114Q|KIAA0753_ENST00000572370.1_Missense_Mutation_p.E114Q	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	413						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGCCTCCTCTCACCCTTTGGT	0.458000													22	117					0	0	0.069288	0	0
COL24A1	255631	broad.mit.edu	37	1	86488523	86488523	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:86488523C>A	ENST00000370571.2	-	16	2507	c.2141G>T	c.(2140-2142)gGt>gTt	p.G714V	COL24A1_ENST00000436319.1_Missense_Mutation_p.G714V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	714	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACCTTATCACCTTTGATTCC	0.264000													4	11					0.000602214	0.000647971	0.014758	1	0
DYSF	8291	broad.mit.edu	37	2	71766326	71766326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:71766326C>A	ENST00000258104.3	+	16	1714	c.1437C>A	c.(1435-1437)taC>taA	p.Y479*	DYSF_ENST00000410020.3_Nonsense_Mutation_p.Y511*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.Y511*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.Y480*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.Y510*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.Y480*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.Y479*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.Y510*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.Y510*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.Y511*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.Y480*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	479	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTACCACCTACCTGAGTATGT	0.572000													29	44					5.90632e-09	7.48305e-09	0.050027	1	0
MYO16	23026	broad.mit.edu	37	13	109614001	109614001	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:109614001C>G	ENST00000356711.2	+	18	2212	c.2086C>G	c.(2086-2088)Caa>Gaa	p.Q696E	MYO16_ENST00000251041.5_Missense_Mutation_p.Q696E|MYO16_ENST00000457511.2_Missense_Mutation_p.Q208E|MYO16_ENST00000357550.2_Missense_Mutation_p.Q696E	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	696	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTCCTGGAACAAGGTCAGTG	0.463000													38	39					0	0	0.086207	0	0
TMEM33	55161	broad.mit.edu	37	4	41956212	41956212	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:41956212C>T	ENST00000504986.1	+	7	1105	c.740C>T	c.(739-741)cCa>cTa	p.P247L	TMEM33_ENST00000325094.5_Missense_Mutation_p.P247L|TMEM33_ENST00000513702.1_Missense_Mutation_p.P247L	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	247						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CCAACAGTTCCATAGTTTAAC	0.393000													22	63					0	0	0.055883	0	0
LAMC1	3915	broad.mit.edu	37	1	183086535	183086535	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:183086535G>T	ENST00000258341.4	+	9	1902	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	549	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.V549M(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGATATCGCCGTGATCTCAGA	0.512000													9	22					1.12685e-05	1.27992e-05	0.047766	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655007	31655007	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr21:31655007T>A	ENST00000340345.4	-	1	269	c.244A>T	c.(244-246)Agt>Tgt	p.S82C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	82						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CCAGTGGTACTGCAGGTCTTG	0.542000													11	39					0	0	0.069234	0	0
LRRN3	54674	broad.mit.edu	37	7	110763422	110763422	+	Silent	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:110763422T>C	ENST00000451085.1	+	4	1640	c.594T>C	c.(592-594)aaT>aaC	p.N198N	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Silent_p.N198N|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Silent_p.N198N|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	198						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTGGGGAAAATCCAATTATCA	0.373000													21	85					0	0	0.049695	0	0
ARMC3	219681	broad.mit.edu	37	10	23248496	23248496	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:23248496T>A	ENST00000298032.5	+	6	614	c.530T>A	c.(529-531)tTg>tAg	p.L177*	ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.L177*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.L177*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	177							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTTACAACTTGGTGCAGGTA	0.353000													10	41					0	0	0.069234	0	0
CSMD1	64478	broad.mit.edu	37	8	2818702	2818702	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:2818702C>A	ENST00000602557.1	-	63	10221	c.9666G>T	c.(9664-9666)acG>acT	p.T3222T	CSMD1_ENST00000400186.3_Silent_p.T3045T|CSMD1_ENST00000520002.1_Silent_p.T3222T|CSMD1_ENST00000542608.1_Silent_p.T3044T|CSMD1_ENST00000537824.1_Silent_p.T3221T|CSMD1_ENST00000602723.1_Silent_p.T3045T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3222	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAAGTGTGGCGTACCAGGGT	0.348000													16	24					3.51602e-12	4.84625e-12	0.049695	1	0
KIAA0947	23379	broad.mit.edu	37	5	5462876	5462876	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:5462876G>A	ENST00000296564.7	+	13	3651	c.3429G>A	c.(3427-3429)gtG>gtA	p.V1143V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1143										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAGCCGAGGTGAGACCTTCCT	0.453000													6	34					0	0	0.038147	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616072	140616072	+	RNA	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:140616072A>G	ENST00000526308.1	+	0	2135					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GACAATGGCGAGCCTCCGCGC	0.716000													6	19					0	0	0.105934	0	0
FAM13C	220965	broad.mit.edu	37	10	61011356	61011356	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:61011356T>A	ENST00000373867.3	-	14	1826	c.1361A>T	c.(1360-1362)cAg>cTg	p.Q454L	FAM13C_ENST00000468840.2_Missense_Mutation_p.Q455L|FAM13C_ENST00000373868.2_Missense_Mutation_p.Q538L|FAM13C_ENST00000419214.2_Missense_Mutation_p.Q440L|FAM13C_ENST00000442566.3_Missense_Mutation_p.Q559L|FAM13C_ENST00000435852.2_Missense_Mutation_p.Q538L|FAM13C_ENST00000277705.6_Missense_Mutation_p.Q558L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	538										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTTAAAAAACTGTTCTTCAAA	0.373000													20	194					0	0	0.062417	0	0
IFI44L	10964	broad.mit.edu	37	1	79102761	79102761	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:79102761C>T	ENST00000370751.4	+	6	1100	c.921C>T	c.(919-921)atC>atT	p.I307I	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Silent_p.I49I	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	307						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CTACTTTTATCACCTCTCCAT	0.373000													26	143					0	0	0.144211	0	0
CABP1	9478	broad.mit.edu	37	12	121098037	121098037	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:121098037G>A	ENST00000453000.1	+	3	1044	c.532G>A	c.(532-534)Gat>Aat	p.D178N	CABP1_ENST00000351200.2_Missense_Mutation_p.D39N|CABP1_ENST00000316803.3_Missense_Mutation_p.D242N|CABP1_ENST00000288616.3_Missense_Mutation_p.D99N			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	242						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGGACAAGGATGGCTACAT	0.572000													16	27					0	0	0.132662	0	0
XIRP2	129446	broad.mit.edu	37	2	167760078	167760078	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:167760078G>T	ENST00000409195.1	+	2	175	c.86G>T	c.(85-87)aGg>aTg	p.R29M	XIRP2_ENST00000420519.1_Missense_Mutation_p.R29M|XIRP2_ENST00000409728.1_Missense_Mutation_p.R29M|XIRP2_ENST00000409756.2_Missense_Mutation_p.R29M|XIRP2_ENST00000409043.1_Missense_Mutation_p.R29M|XIRP2_ENST00000295237.9_Missense_Mutation_p.R29M	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTCATCCCAGGGACAGCCAT	0.493000													9	39					0.000442599	0.000479756	0.058154	1	0
SLC27A6	28965	broad.mit.edu	37	5	128324344	128324344	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:128324344C>A	ENST00000262462.4	+	3	1747	c.737C>A	c.(736-738)gCt>gAt	p.A246D	SLC27A6_ENST00000506176.1_Missense_Mutation_p.A246D|SLC27A6_ENST00000395266.1_Missense_Mutation_p.A246D			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	246					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGGGTTCTGCTGTCCTGTGG	0.403000													29	135					4.02929e-09	5.12712e-09	0.045705	1	0
TMEM169	92691	broad.mit.edu	37	2	216960749	216960749	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:216960749C>T	ENST00000454545.1	+	3	389	c.63C>T	c.(61-63)ctC>ctT	p.L21L	TMEM169_ENST00000406027.2_Silent_p.L21L|TMEM169_ENST00000437356.2_Silent_p.L21L|TMEM169_ENST00000295658.4_Silent_p.L21L	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	21						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGCTCTCTCAGGAAGGCTG	0.542000													10	29					0	0	0.069234	0	0
LIPJ	142910	broad.mit.edu	37	10	90356677	90356677	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:90356677C>A	ENST00000371939.3	+	8	1021	c.707C>A	c.(706-708)cCa>cAa	p.P236Q		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	236					lipid catabolic process		hydrolase activity	p.P236Q(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GGATATGACCCAAAAAACTTA	0.269000													8	101					5.18039e-06	5.98472e-06	0.038147	1	0
TRIM2	23321	broad.mit.edu	37	4	154217070	154217070	+	Silent	SNP	C	C	T	rs141510470		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:154217070C>T	ENST00000338700.5	+	6	1457	c.1392C>T	c.(1390-1392)cgC>cgT	p.R464R	TRIM2_ENST00000437508.2_Silent_p.R437R|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	437						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TGAAGAGGCGCGTTAAGTCCC	0.547000													10	24					0	0	0.069234	0	0
CRYZ	1429	broad.mit.edu	37	1	75172879	75172879	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:75172879C>T	ENST00000417775.1	-	8	1144	c.640G>A	c.(640-642)Ggt>Agt	p.G214S	CRYZ_ENST00000370872.3_Missense_Mutation_p.G77S|CRYZ_ENST00000370871.3_Intron|CRYZ_ENST00000340866.5_Missense_Mutation_p.G214S|CRYZ_ENST00000492102.1_5'UTR	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	214					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CCTTTCTCACCAACATACTTC	0.284000													4	60					0	0	0.009096	0	0
PCMT1	5110	broad.mit.edu	37	6	150111148	150111148	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:150111148A>T	ENST00000464889.1	+	4	709	c.425A>T	c.(424-426)gAt>gTt	p.D142V	PCMT1_ENST00000367380.5_Missense_Mutation_p.D84V|PCMT1_ENST00000367378.1_Missense_Mutation_p.D142V|PCMT1_ENST00000367384.2_Missense_Mutation_p.D142V|PCMT1_ENST00000544496.1_Missense_Mutation_p.D49V					protein-L-isoaspartate (D-aspartate) O-methyltransferase											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		AAAGCTCTTGATGTAGGATCT	0.373000													48	66					0	0	0.139131	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410247	105410247	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:105410247C>G	ENST00000333244.5	-	7	11660	c.11541G>C	c.(11539-11541)aaG>aaC	p.K3847N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3847						nucleus		p.K3847N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCAGTGGTCTTGAGGTCCC	0.637000													64	153					0	0	0.139131	0	0
LAMP1	3916	broad.mit.edu	37	13	113975931	113975931	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr13:113975931T>C	ENST00000332556.4	+	8	1197	c.1003T>C	c.(1003-1005)Tcc>Ccc	p.S335P	LAMP1_ENST00000397181.3_Missense_Mutation_p.S282P	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	335	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AGTCGGCAATTCCTACAAGTG	0.557000													26	42					0	0	0.144211	0	0
SOX13	9580	broad.mit.edu	37	1	204083468	204083468	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:204083468G>T	ENST00000367204.1	+	3	348	c.239G>T	c.(238-240)gGt>gTt	p.G80V	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	80					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTCCAGAGGGTAATGGGTCC	0.547000													3	20					0.004672	0.00493624	0.115264	1	0
TTN	7273	broad.mit.edu	37	2	179583676	179583676	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:179583676G>A	ENST00000589042.1	-	84	24475	c.24251C>T	c.(24250-24252)cCt>cTt	p.P8084L	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P7767L|TTN_ENST00000342992.6_Missense_Mutation_p.P6840L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7767	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGAATCAGGGGTTTGTTC	0.448000													4	17					0	0	0.014758	0	0
NCOR2	9612	broad.mit.edu	37	12	124826370	124826370	+	Splice_Site	SNP	T	T	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:124826370T>A	ENST00000356219.3	-	35	5363	c.5209_splice	c.e35+1	p.R1736_splice	NCOR2_ENST00000397355.1_Splice_Site_p.R1720_splice|NCOR2_ENST00000405201.1_Splice_Site_p.R1729_splice|NCOR2_ENST00000404621.1_Splice_Site_p.R1719_splice|NCOR2_ENST00000404121.2_Splice_Site_p.R1290_splice|NCOR2_ENST00000429285.2_Splice_Site_p.R1719_splice	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1737					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCCACTCACCTCGGGGACCCG	0.672000													27	41					0	0	0.050027	0	0
DSCAML1	57453	broad.mit.edu	37	11	117332234	117332234	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:117332234G>A	ENST00000321322.6	-	18	3525	c.3524C>T	c.(3523-3525)cCg>cTg	p.P1175L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P905L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1115	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGCTGCGCGGGGGCTCTGA	0.627000													10	57					0	0	0.093190	0	0
RARS2	57038	broad.mit.edu	37	6	88224178	88224178	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:88224178C>A	ENST00000369536.5	-	20	1735	c.1690G>T	c.(1690-1692)Gcc>Tcc	p.A564S		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	564					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATTCCATTGGCTAGGACAGAA	0.318000													10	45					1.36491e-13	1.93601e-13	0.105934	1	0
ABCB5	340273	broad.mit.edu	37	7	20698191	20698191	+	Silent	SNP	C	C	A	rs149065510	by1000genomes	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:20698191C>A	ENST00000404938.2	+	14	2251	c.1599C>A	c.(1597-1599)atC>atA	p.I533I	ABCB5_ENST00000258738.6_Silent_p.I88I|ABCB5_ENST00000406935.1_Silent_p.I88I|ABCB5_ENST00000443026.2_Silent_p.I88I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	88	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AACAGAGGATCGCAATTGCTC	0.438000													59	43					9.77497e-20	1.50569e-19	0.139131	1	0
CEP192	55125	broad.mit.edu	37	18	13056289	13056289	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr18:13056289C>T	ENST00000506447.1	+	19	3780	c.3700C>T	c.(3700-3702)Cac>Tac	p.H1234Y	CEP192_ENST00000430049.2_Missense_Mutation_p.H759Y|CEP192_ENST00000325971.8_Missense_Mutation_p.H638Y	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	829										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGCACAGTTCACAGCTCTGT	0.527000													5	18					0	0	0.014758	0	0
SPIN3	169981	broad.mit.edu	37	X	57021110	57021110	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:57021110C>A	ENST00000374919.3	-	2	593	c.271G>T	c.(271-273)Gac>Tac	p.D91Y		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	91					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TAAACACAGTCAAATCCATCA	0.393000													40	56					3.3946e-10	4.44182e-10	0.080422	1	0
PODXL	5420	broad.mit.edu	37	7	131194301	131194301	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:131194301C>G	ENST00000541194.1	-	4	1109	c.852G>C	c.(850-852)caG>caC	p.Q284H	PODXL_ENST00000322985.9_Missense_Mutation_p.Q250H|PODXL_ENST00000537928.1_Missense_Mutation_p.Q250H|PODXL_ENST00000378555.3_Missense_Mutation_p.Q282H	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	282	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGGCTGGCATCTGACTGGAGG	0.557000													30	170					0	0	0.054565	0	0
METAP1D	254042	broad.mit.edu	37	2	172935698	172935698	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:172935698T>C	ENST00000315796.4	+	6	991	c.604T>C	c.(604-606)Tgt>Cgt	p.C202R	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	202					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TGTGGACGAATGTGGTAAAAA	0.423000													34	122					0	0	0.080422	0	0
OR2B3	442184	broad.mit.edu	37	6	29054991	29054991	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:29054991A>G	ENST00000377173.2	-	1	99	c.35T>C	c.(34-36)tTt>tCt	p.F12S		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AAGTAGTATAAACTCTTTTGG	0.373000													17	52					0	0	0.033300	0	0
CCDC37	348807	broad.mit.edu	37	3	126138491	126138491	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:126138491G>C	ENST00000393425.1	+	9	845	c.746G>C	c.(745-747)aGa>aCa	p.R249T	CCDC37_ENST00000505024.1_Missense_Mutation_p.R249T|CCDC37_ENST00000352312.1_Missense_Mutation_p.R248T			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	248										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAGATCTCCAGATTTGAAGAC	0.542000													9	63					0	0	0.047766	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681144	106681144	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:106681144C>A	ENST00000526355.1	-	5	1735	c.1267G>T	c.(1267-1269)Ggc>Tgc	p.G423C	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G423C|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G444C	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	423					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CATGGAGAGCCCAAAAATAAA	0.428000													12	39					4.36969e-10	5.65868e-10	0.105934	1	0
RYR2	6262	broad.mit.edu	37	1	237791208	237791208	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:237791208C>T	ENST00000366574.2	+	41	6585	c.6268C>T	c.(6268-6270)Cgg>Tgg	p.R2090W	RYR2_ENST00000542537.1_Missense_Mutation_p.R2074W|RYR2_ENST00000360064.6_Missense_Mutation_p.R2088W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2090	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGCTCCATCGGCAGTATGA	0.562000													5	37					0	0	0.038147	0	0
PLEC	5339	broad.mit.edu	37	8	145008177	145008177	+	Silent	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:145008177G>A	ENST00000322810.4	-	12	1832	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	PLEC_ENST00000354589.3_Silent_p.L418L|PLEC_ENST00000345136.3_Silent_p.L418L|PLEC_ENST00000527096.1_Silent_p.L441L|PLEC_ENST00000354958.2_Silent_p.L396L|PLEC_ENST00000398774.2_Silent_p.L386L|PLEC_ENST00000436759.2_Silent_p.L445L|PLEC_ENST00000357649.2_Silent_p.L422L|PLEC_ENST00000356346.3_Silent_p.L404L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	555	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACTGCAGCAGGGCGTCGGCC	0.697000													4	3					0	0	0.009096	0	0
MARCH10	162333	broad.mit.edu	37	17	60814269	60814269	+	Silent	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:60814269C>G	ENST00000544856.2	-	7	1335	c.957G>C	c.(955-957)ggG>ggC	p.G319G	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Silent_p.G320G|MARCH10_ENST00000583600.1_Silent_p.G358G|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.G320G			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	320			F -> S (in dbSNP:rs9891498).				ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCGATGTCCCCCCAAATCTAC	0.453000													99	255					0	0	0.139131	0	0
THEMIS2	9473	broad.mit.edu	37	1	28209155	28209155	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:28209155C>T	ENST00000373921.3	+	4	1324	c.1320C>T	c.(1318-1320)taC>taT	p.Y440Y	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Silent_p.Y311Y	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		GCCGGCGCTACAGCCTGGCAG	0.607000													13	36					0	0	0.093190	0	0
DMXL1	1657	broad.mit.edu	37	5	118484770	118484770	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:118484770G>T	ENST00000311085.8	+	18	3328	c.3248G>T	c.(3247-3249)tGt>tTt	p.C1083F	DMXL1_ENST00000539542.1_Missense_Mutation_p.C1083F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1083										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTTTTGAATGTGAGTCAACA	0.388000													38	155					1.59361e-14	2.29752e-14	0.092188	1	0
PHF21B	112885	broad.mit.edu	37	22	45312286	45312286	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:45312286C>A	ENST00000313237.5	-	4	588	c.438G>T	c.(436-438)gcG>gcT	p.A146A	PHF21B_ENST00000396103.3_Silent_p.A146A|PHF21B_ENST00000404079.2_Silent_p.A134A|PHF21B_ENST00000447824.3_Silent_p.A134A|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	146							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGGCCACCCCCGCACTGCTCA	0.701000													8	20					0.000157383	0.000172944	0.038147	1	0
C19orf45	374877	broad.mit.edu	37	19	7571041	7571041	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:7571041G>T	ENST00000361664.2	+	7	1338	c.1197G>T	c.(1195-1197)cgG>cgT	p.R399R		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	399										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACCTGCCGCGGGGCACGGGCG	0.692000													15	3					6.72482e-11	8.97324e-11	0.132662	1	0
TCOF1	6949	broad.mit.edu	37	5	149772988	149772988	+	Silent	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:149772988C>A	ENST00000451292.1	+	24	3873	c.3765C>A	c.(3763-3765)gcC>gcA	p.A1255A	TCOF1_ENST00000377797.3_Silent_p.A1219A|TCOF1_ENST00000445265.2_Silent_p.A1142A|TCOF1_ENST00000323668.7_Silent_p.A1141A|TCOF1_ENST00000439160.2_Silent_p.A1181A|TCOF1_ENST00000513346.1_Silent_p.A1218A|TCOF1_ENST00000504761.2_Silent_p.A1218A			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1218					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCCCAGGCCTCAAAAGCCA	0.572000													6	29					0.0293803	0.0304197	0.029380	1	0
MYH3	4621	broad.mit.edu	37	17	10542427	10542427	+	Missense_Mutation	SNP	T	T	A	rs76525125		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:10542427T>A	ENST00000583535.1	-	25	3269	c.3182A>T	c.(3181-3183)aAg>aTg	p.K1061M	MYH3_ENST00000226209.7_Missense_Mutation_p.K1061M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1061					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGAGCAAGCTTCAAGTCTCC	0.448000													54	56					0	0	0.139131	0	0
OR4F15	390649	broad.mit.edu	37	15	102359139	102359139	+	Missense_Mutation	SNP	C	C	G	rs149793188	byFrequency	TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:102359139C>G	ENST00000332238.4	+	1	774	c.750C>G	c.(748-750)ttC>ttG	p.F250L		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCATCTTGTTCTTTGGGCCAC	0.428000													41	130					0	0	0.139131	0	0
COL4A6	1288	broad.mit.edu	37	X	107414123	107414123	+	Missense_Mutation	SNP	A	A	T	rs147159171		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:107414123A>T	ENST00000394872.2	-	34	3536	c.3305T>A	c.(3304-3306)aTa>aAa	p.I1102K	COL4A6_ENST00000334504.7_Missense_Mutation_p.I1101K|COL4A6_ENST00000372216.4_Missense_Mutation_p.I1102K|COL4A6_ENST00000545689.1_Missense_Mutation_p.I1101K|COL4A6_ENST00000538570.1_Missense_Mutation_p.I1101K			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1102	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TATATTGCCTATTAGTCCATC	0.423000									Alport syndrome with Diffuse Leiomyomatosis				17	40					0	0	0.033300	0	0
RP9	6100	broad.mit.edu	37	7	33134963	33134963	+	Silent	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:33134963C>T	ENST00000297157.3	-	6	566	c.549G>A	c.(547-549)gaG>gaA	p.E183E		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	183	Lys-rich.				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			tcttGTGTTTCTCTTTACCTT	0.353000													19	127					0	0	0.055883	0	0
ZNF207	7756	broad.mit.edu	37	17	30696329	30696329	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:30696329C>A	ENST00000394670.4	+	11	1349	c.1180C>A	c.(1180-1182)Cag>Aag	p.Q394K	ZNF207_ENST00000577908.1_Missense_Mutation_p.Q394K|ZNF207_ENST00000321233.6_Missense_Mutation_p.Q378K|ZNF207_ENST00000341711.6_Missense_Mutation_p.Q295K|ZNF207_ENST00000394673.2_Missense_Mutation_p.Q363K|ZNF207_ENST00000342555.6_Missense_Mutation_p.Q397K	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	378						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGAAGGGCACAGTTACCTAA	0.488000													3	55					0.00909568	0.00950715	0.009096	1	0
C8B	732	broad.mit.edu	37	1	57411654	57411654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:57411654G>T	ENST00000543257.1	-	8	1355	c.789C>A	c.(787-789)taC>taA	p.Y263*	C8B_ENST00000371237.4_Nonsense_Mutation_p.Y315*|C8B_ENST00000535057.1_Nonsense_Mutation_p.Y253*	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	315	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GAAGGAACTCGTAATGGAGCA	0.478000													10	45					7.48243e-07	8.85387e-07	0.058154	1	0
MUC17	140453	broad.mit.edu	37	7	100675086	100675086	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:100675086C>A	ENST00000306151.4	+	3	453	c.389C>A	c.(388-390)cCc>cAc	p.P130H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	130	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACTTTTCCCCAGTTCTACT	0.468000													19	85					1.45105e-14	2.09889e-14	0.038395	1	0
OR10G7	390265	broad.mit.edu	37	11	123909326	123909326	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:123909326G>T	ENST00000330487.5	-	1	391	c.383C>A	c.(382-384)cCg>cAg	p.P128Q		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTACCTGAGCGGGTAACTGAT	0.562000													20	98					1.96292e-10	2.57615e-10	0.055883	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410123	105410123	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:105410123C>T	ENST00000333244.5	-	7	11784	c.11665G>A	c.(11665-11667)Gtg>Atg	p.V3889M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3889						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCATCTGCACCTTGGGCAGG	0.587000													94	211					0	0	0.139131	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568270	45568270	+	RNA	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr12:45568270C>A	ENST00000256692.5	-	0	415					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGCACACTTCTGGCCTTCAG	0.483000													12	70					0.00136819	0.0014614	0.093190	1	0
TBX22	50945	broad.mit.edu	37	X	79286250	79286250	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:79286250G>T	ENST00000442340.1	+	9	1333	c.843G>T	c.(841-843)caG>caT	p.Q281H	TBX22_ENST00000373294.5_Missense_Mutation_p.Q401H|TBX22_ENST00000373296.3_Missense_Mutation_p.Q401H|TBX22_ENST00000373291.1_Missense_Mutation_p.Q281H	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	401					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGTTCTCAGTCTTTAGCCC	0.453000													33	73					9.04072e-19	1.37569e-18	0.059317	1	0
MST1R	4486	broad.mit.edu	37	3	49940625	49940625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:49940625G>A	ENST00000296474.3	-	1	445	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.Q140*|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	140	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAGCGGCCCTGCAGGCTGGAG	0.667000													22	61					0	0	0.069288	0	0
PRKG1	5592	broad.mit.edu	37	10	54048605	54048605	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:54048605G>T	ENST00000373980.4	+	15	2246	c.1829G>T	c.(1828-1830)tGc>tTc	p.C610F	PRKG1_ENST00000401604.2_Missense_Mutation_p.C595F|PRKG1_ENST00000373975.2_Missense_Mutation_p.C313F|PRKG1_ENST00000373985.1_Missense_Mutation_p.C583F|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	595	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AAAAAACTATGCAGGTAAGTA	0.274000													22	45					1.22574e-08	1.52652e-08	0.069288	1	0
ARID3C	138715	broad.mit.edu	37	9	34627763	34627763	+	Silent	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr9:34627763G>T	ENST00000378909.2	-	1	341	c.249C>A	c.(247-249)ccC>ccA	p.P83P		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		AAGGCGAGCTGGGGCCCTGGG	0.627000													8	41					0.00307968	0.00327356	0.038147	1	0
ALOX12	239	broad.mit.edu	37	17	6913428	6913428	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:6913428C>A	ENST00000251535.6	+	13	1848	c.1795C>A	c.(1795-1797)Cgc>Agc	p.R599S	AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_5'UTR|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	599	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GCATCTGAGTCGCCGCCAGCC	0.567000													16	17					1.5739e-10	2.08115e-10	0.146539	1	0
RYR3	6263	broad.mit.edu	37	15	34016357	34016357	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:34016357C>A	ENST00000389232.4	+	45	6962	c.6892C>A	c.(6892-6894)Cgc>Agc	p.R2298S	RYR3_ENST00000415757.3_Missense_Mutation_p.R2298S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2298	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTACTGGGCCGCTGTGCTCC	0.448000													4	6					1.23904e-05	1.3965e-05	0.014758	1	0
OLAH	55301	broad.mit.edu	37	10	15113847	15113847	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:15113847G>T	ENST00000378217.3	+	8	972	c.785G>T	c.(784-786)gGa>gTa	p.G262V	OLAH_ENST00000378228.3_Missense_Mutation_p.G209V|OLAH_ENST00000485251.1_Intron	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	209					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGTTTTGTTGGATCTGAAGAC	0.318000													25	149					3.7963e-18	5.74682e-18	0.083992	1	0
SUV420H1	51111	broad.mit.edu	37	11	67926158	67926158	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr11:67926158G>C	ENST00000304363.4	-	11	2008	c.1655C>G	c.(1654-1656)tCt>tGt	p.S552C		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTTGATGTCAGAGGCCTCCTT	0.537000													26	165					0	0	0.108266	0	0
TPX2	22974	broad.mit.edu	37	20	30386191	30386191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr20:30386191C>T	ENST00000340513.4	+	18	2605	c.2077C>T	c.(2077-2079)Cag>Tag	p.Q693*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.Q657*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	657					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTCTCTAGTTCAGGAACCTTT	0.498000													22	113					0	0	0.091800	0	0
KIAA1841	84542	broad.mit.edu	37	2	61331052	61331052	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:61331052C>T	ENST00000402291.1	+	13	1671	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	KIAA1841_ENST00000356719.2_Missense_Mutation_p.S477F|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S477F|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S477F	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	477										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATTTGCCGTCCTGTCCCACT	0.443000													12	57					0	0	0.093190	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746388	23746388	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:23746388C>G	ENST00000357460.5	-	2	213	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	HOMEZ_ENST00000431326.2_Missense_Mutation_p.E19Q|HOMEZ_ENST00000561013.1_Missense_Mutation_p.E19Q	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	17						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TTGTGCCCTTCAGAGATAGCT	0.498000													3	8					0	0	0.115264	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889700	23889700	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr15:23889700G>T	ENST00000532292.1	-	1	1475	c.1381C>A	c.(1381-1383)Cgt>Agt	p.R461S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTGTTGGCACGGTTGATGATA	0.448000													9	20					3.09899e-07	3.68687e-07	0.047766	1	0
MYT1L	23040	broad.mit.edu	37	2	1926811	1926811	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:1926811C>A	ENST00000399161.2	-	10	1477	c.730G>T	c.(730-732)Ggt>Tgt	p.G244C	MYT1L_ENST00000428368.2_Missense_Mutation_p.G244C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	244					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTTCCGACCCAGGTTTTCG	0.463000													23	120					7.16444e-05	7.93238e-05	0.091800	1	0
C4orf3	401152	broad.mit.edu	37	4	120221657	120221657	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:120221657C>T	ENST00000399075.4	-	2	432	c.433G>A	c.(433-435)Gat>Aat	p.D145N	C4orf3_ENST00000504110.1_Missense_Mutation_p.D12N	NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	12						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						CGGAGACCATCTCGACCATCA	0.567000													11	40					0	0	0.080935	0	0
OR2M2	391194	broad.mit.edu	37	1	248343407	248343407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr1:248343407delG	ENST00000359682.2	+	1	120	c.120delG	c.(118-120)atfs	p.M40fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M40I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGCCTTCATGGGAAACTCTG	0.522													49	378	---	---	---	---					
LOC401010	401010	broad.mit.edu	37	2	130989065	130989065	+	RNA	DEL	G	G	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:130989065delG	ENST00000450578.1	+	0	138																											gaggaggaCAGCAGCAACTTG	0.647													6	6	---	---	---	---					
KIF1A	547	broad.mit.edu	37	2	241685505	241685506	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr2:241685505_241685506insC	ENST00000498729.2	-	30	3398_3399	c.3152_3153insG	c.(3151-3153)ggcfs	p.G1051fs	KIF1A_ENST00000320389.7_Frame_Shift_Ins_p.G950fs	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	950					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCACGTCTGCACCCTGGCCCTG	0.649													6	6	---	---	---	---					
CCDC54	84692	broad.mit.edu	37	3	107097399	107097401	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:107097399_107097401delAAG	ENST00000261058.1	+	1	1212_1214	c.965_967delAAG	c.(964-969)aaa>a	p.KE322del		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	322										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TGTTCCTTAAAAGAAGAAGTAAC	0.409													11	80	---	---	---	---					
ATG3	64422	broad.mit.edu	37	3	112260671	112260676	+	In_Frame_Del	DEL	CTTCAT	CTTCAT	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr3:112260671_112260676delCTTCAT	ENST00000402314.2	-	7	836_841	c.449_454delATGAAG	c.(448-456)gga>g	p.DEG150del	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_In_Frame_Del_p.DEG150del			Q9NT62	ATG3_HUMAN	autophagy related 3	150					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						GCAGCTTCTCCTTCATCTTCATCTTC	0.301													13	135	---	---	---	---					
KIAA0232	9778	broad.mit.edu	37	4	6864770	6864770	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:6864770delG	ENST00000307659.5	+	7	3116	c.2661delG	c.(2659-2661)gafs	p.E887fs	KIAA0232_ENST00000425103.1_Frame_Shift_Del_p.E887fs	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	887							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATCTGTGGGAGGGACAGAAAG	0.483													15	57	---	---	---	---					
FRYL	285527	broad.mit.edu	37	4	48636331	48636332	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr4:48636331_48636332insA	ENST00000358350.4	-	4	700_701	c.96_97insT	c.(94-99)ataagtfs	p.S33fs	FRYL_ENST00000537810.1_Frame_Shift_Ins_p.S33fs|FRYL_ENST00000507711.1_Frame_Shift_Ins_p.S33fs|FRYL_ENST00000503238.1_Frame_Shift_Ins_p.S33fs|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTACAACTTCAATTTTCTTTT	0.361													34	84	---	---	---	---					
OCLN	100506658	broad.mit.edu	37	5	68805265	68805270	+	In_Frame_Del	DEL	TGGCTA	TGGCTA	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:68805265_68805270delTGGCTA	ENST00000355237.2	+	3	784_789	c.348_353delTGGCTA	c.(346-354)agt>ag	p.SGY116del	OCLN_ENST00000380766.2_In_Frame_Del_p.SGY116del|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_In_Frame_Del_p.SGY116del	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	116	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTACGGAAGtggctatggctatggc	0.524													12	70	---	---	---	---					
PCDHGA3	56112	broad.mit.edu	37	5	140725793	140725794	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:140725793_140725794insT	ENST00000253812.6	+	1	2193_2194	c.2193_2194insT	c.(2191-2196)ggtggcfs	p.G732fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGAGGCGGCTTGGCGAGTAC	0.678													18	56	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150921897	150921897	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr5:150921897delG	ENST00000261800.5	-	9	8803	c.8791delC	c.(8791-8793)tgfs	p.L2931fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2931	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGCATCCAGGGTCTTTAGA	0.493													36	152	---	---	---	---					
COL21A1	81578	broad.mit.edu	37	6	55940295	55940295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr6:55940295delT	ENST00000244728.5	-	19	2290	c.1893delA	c.(1891-1893)aafs	p.K631fs	COL21A1_ENST00000370819.1_Frame_Shift_Del_p.K628fs|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Frame_Shift_Del_p.K31fs|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.K631fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	631	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G632fs*8(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGGGGCTCCTTTTTTTCCTT	0.353													2	4	---	---	---	---					
C7orf25	79020	broad.mit.edu	37	7	42949986	42949987	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:42949986_42949987delTG	ENST00000350427.4	-	2	788_789	c.513_514delCA	c.(511-516)aagtfs	p.NS171fs	C7orf25_ENST00000438029.1_Frame_Shift_Del_p.NS171fs|C7orf25_ENST00000431882.2_Frame_Shift_Del_p.NS229fs|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Frame_Shift_Del_p.NS171fs			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	171										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTGGAGACACTGTTGTAAAATG	0.490													10	133	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121650666	121650667	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr7:121650666_121650667delTG	ENST00000393386.2	+	12	1977_1978	c.1566_1567delTG	c.(1564-1569)actgfs	p.TV522fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.TV522fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	522					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCTCAGACTGTGACTGAACT	0.421													29	112	---	---	---	---					
TPD52	7163	broad.mit.edu	37	8	80950450	80950450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr8:80950450delC	ENST00000379096.5	-	6	570	c.456delG	c.(454-456)aafs	p.K152fs	TPD52_ENST00000519303.2_Frame_Shift_Del_p.K28fs|TPD52_ENST00000518937.1_Frame_Shift_Del_p.K175fs|TPD52_ENST00000379097.3_Frame_Shift_Del_p.K192fs|TPD52_ENST00000537855.1_Intron|TPD52_ENST00000520527.1_Frame_Shift_Del_p.K215fs|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000448733.2_Frame_Shift_Del_p.K206fs|TPD52_ENST00000517427.1_Frame_Shift_Del_p.K201fs	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	192					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	p.K192K(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CACCAGCAGGCTTGGTTCCCC	0.423													20	69	---	---	---	---					
GATA3	2625	broad.mit.edu	37	10	8106097	8106097	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:8106097delG	ENST00000379328.3	+	4	1488	c.920delG	c.(919-921)agfs	p.R307fs	GATA3_ENST00000346208.3_Frame_Shift_Del_p.R306fs|GATA3_ENST00000461472.1_Intron	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	306					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCAAGCGAAGGCTGGTAAGT	0.547			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						28	49	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75527681	75527681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr10:75527681delC	ENST00000339365.2	+	16	2259	c.2097delC	c.(2095-2097)ttfs	p.F699fs	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Frame_Shift_Del_p.F580fs|SEC24C_ENST00000345254.4_Frame_Shift_Del_p.F699fs	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	699					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCTTTCTCTTCCCTAACCAGT	0.517													10	78	---	---	---	---					
YY1	7528	broad.mit.edu	37	14	100705788	100705790	+	In_Frame_Del	DEL	CCA	CCA	-	rs76675246		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr14:100705788_100705790delCCA	ENST00000262238.4	+	1	467_469	c.207_209delCCA	c.(205-210)ggc>gg	p.GH69del		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	69	Gly-rich.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gGCACGCCGGccaccaccaccac	0.724													4	5	---	---	---	---					
BCMO1	53630	broad.mit.edu	37	16	81304004	81304004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr16:81304004delC	ENST00000258168.2	+	7	1545	c.1084delC	c.(1084-1086)ccfs	p.P362fs	BCMO1_ENST00000425577.2_Frame_Shift_Del_p.P293fs	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	362					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GTTTGCCGTGCCCCTCCACGT	0.542													23	45	---	---	---	---					
USP6	9098	broad.mit.edu	37	17	5073935	5073935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:5073935delG	ENST00000574788.1	+	36	5909	c.3679delG	c.(3679-3681)ccfs	p.A1227fs	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Frame_Shift_Del_p.A910fs|USP6_ENST00000250066.6_Frame_Shift_Del_p.A1227fs			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1227					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAACTTGGATGCCAGCAAAGA	0.577			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								8	21	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:7578458delG	ENST00000420246.2	-	5	604	c.472delC	c.(472-474)gcfs	p.R158fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.R158fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.R158fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R158fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R158fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R158fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCATGGCGCGGACGCGGGTG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	25	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29586106	29586106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:29586106delT	ENST00000358273.4	+	33	4772	c.4389delT	c.(4387-4389)ccfs	p.P1463fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.P1442fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1463					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATATGCGGCCTTTCAATGATT	0.338			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	21	---	---	---	---					
HOXB4	3214	broad.mit.edu	37	17	46654168	46654168	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr17:46654168delG	ENST00000332503.5	-	2	2463	c.672delC	c.(670-672)ccfs	p.P224fs	HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P224P(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TCTTGGTGTTGGGCAACTTGT	0.677													22	83	---	---	---	---					
CYP4F3	4051	broad.mit.edu	37	19	15770154	15770154	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:15770154delG	ENST00000221307.7	+	13	1570	c.1522delG	c.(1522-1524)cafs	p.A508fs	CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.A508fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.A508fs|CYP4F3_ENST00000586182.1_Frame_Shift_Del_p.A508fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	508					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGTCCTGCGCGCAGAGGGCGG	0.637													7	19	---	---	---	---					
ZNF728	388523	broad.mit.edu	37	19	23158850	23158850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr19:23158850delC	ENST00000594710.1	-	4	1434	c.1289delG	c.(1288-1290)gcfs	p.G430fs		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AAAGGCTTTGCCACATTCTTC	0.363													9	36	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													4	8	---	---	---	---					
ZNF449	203523	broad.mit.edu	37	X	134494660	134494675	+	Frame_Shift_Del	DEL	ACATATAAATGTCTTG	ACATATAAATGTCTTG	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:134494660_134494675delACATATAAATGTCTTG	ENST00000339249.4	+	5	1356_1371	c.1216_1231delACATATAAATGTCTTG	c.(1216-1233)agfs	p.TYKCLE406fs		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	406					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGAAGAAACATATAAATGTCTTGAGTGTGGGAA	0.389													21	103	---	---	---	---					
SPANXN3	139067	broad.mit.edu	37	X	142596896	142596896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5946-01A-11D-1753-08	TCGA-50-5946-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	142d43e8-10e1-4945-a37c-f2824d53b122	06a41ce7-1553-4452-9f41-da6262e26409	g.chrX:142596896delC	ENST00000370503.2	-	2	257	c.174delG	c.(172-174)agfs	p.R58fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	58										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTACCCTTCCTGAGGTAAT	0.398													72	35	---	---	---	---					
