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
PHKA1	5255	broad.mit.edu	37	X	71840619	71840619	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:71840619T>A	ENST00000339490.3	-	19	2393	c.2093A>T	c.(2092-2094)gAc>gTc	p.D698V	PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373542.4_Missense_Mutation_p.D698V|PHKA1_ENST00000373539.3_Missense_Mutation_p.D698V	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	698					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGACATTAAGTCGCAGGTTGT	0.537000													11	43					0	0	0.008291	0	0
DOCK11	139818	broad.mit.edu	37	X	117722150	117722150	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:117722150C>A	ENST00000276204.6	+	17	1920	c.1846C>A	c.(1846-1848)Caa>Aaa	p.Q616K	DOCK11_ENST00000276202.7_Missense_Mutation_p.Q616K|DOCK11_ENST00000498252.1_3'UTR			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	616					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAAGAATTGCCAAAATATTAC	0.318000													13	56					0.00010058	0.000115194	0.001368	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90502170	90502170	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:90502170C>A	ENST00000325643.5	+	4	2834	c.2768C>A	c.(2767-2769)cCa>cAa	p.P923Q		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTCGCTGCCCCACCGCCTGAG	0.602000													8	26					0.000274275	0.000311465	0.004482	1	0
PAK3	5063	broad.mit.edu	37	X	110395675	110395675	+	Splice_Site	SNP	G	G	C	rs143591118		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:110395675G>C	ENST00000519681.1	+	9	973	c.531_splice	c.e9+1	p.S177_splice	PAK3_ENST00000417227.1_Splice_Site_p.S177_splice|PAK3_ENST00000518291.1_Splice_Site_p.S192_splice|PAK3_ENST00000372007.4_Splice_Site_p.S156_splice|PAK3_ENST00000425146.1_Splice_Site_p.S156_splice|PAK3_ENST00000360648.4_Splice_Site_p.S192_splice|PAK3_ENST00000372010.1_Splice_Site_p.S171_splice|PAK3_ENST00000446737.1_Splice_Site_p.S156_splice|PAK3_ENST00000262836.4_Splice_Site_p.S171_splice			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	171	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCCATCCTTCGGTAAGTGAAA	0.333000										TSP Lung(19;0.15)			9	33					0	0	0.006214	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802988	140802988	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:140802988G>T	ENST00000398587.2	+	1	2227	c.2194G>T	c.(2194-2196)Ggg>Tgg	p.G732W	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGAAGGCGGGTTGGCAGG	0.587000													38	82					3.76114e-14	5.47818e-14	0.004289	1	0
NPC1L1	29881	broad.mit.edu	37	7	44573443	44573443	+	Missense_Mutation	SNP	G	G	A	rs149392392		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:44573443G>A	ENST00000289547.4	-	7	2231	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	NPC1L1_ENST00000423141.1_Intron|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R726W|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R726W	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	726	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCAGGCCTCCGGGGCAGCCTC	0.652000													9	24					0	0	0.004482	0	0
DEFA5	1670	broad.mit.edu	37	8	6914118	6914118	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:6914118C>A	ENST00000330590.2	-	1	138	c.102G>T	c.(100-102)caG>caT	p.Q34H		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	34					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTTCCCCAGACTGCTTCTGGG	0.537000													63	11					3.10202e-16	4.72353e-16	0.003610	1	0
ABCC8	6833	broad.mit.edu	37	11	17464360	17464360	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:17464360C>A	ENST00000302539.4	-	10	1662	c.1537G>T	c.(1537-1539)Gcc>Tcc	p.A513S	ABCC8_ENST00000389817.3_Missense_Mutation_p.A513S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	513	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTCTCCCAGGCGTACAGCTTC	0.597000													25	32					7.33532e-06	9.14356e-06	0.003954	1	0
CLCN3	1182	broad.mit.edu	37	4	170628234	170628234	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:170628234G>T	ENST00000513761.1	+	11	2525	c.1966G>T	c.(1966-1968)Gac>Tac	p.D656Y	CLCN3_ENST00000347613.4_Missense_Mutation_p.D656Y|CLCN3_ENST00000360642.3_Missense_Mutation_p.D629Y|CLCN3_ENST00000504131.2_Missense_Mutation_p.D639Y	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	656					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CCTGGCTGCTGACGTTATGAG	0.433000													20	50					9.95505e-16	1.49885e-15	0.002299	1	0
ADAMTS13	11093	broad.mit.edu	37	9	136307772	136307772	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:136307772C>T	ENST00000371929.3	+	18	2586	c.2142C>T	c.(2140-2142)gcC>gcT	p.A714A	ADAMTS13_ENST00000355699.2_Silent_p.A714A|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.A683A|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	714	TSP type-1 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGACCAGGCCAGGAAGGAGT	0.662000													12	69					0	0	0.001368	0	0
ATP2B3	492	broad.mit.edu	37	X	152806836	152806836	+	Silent	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:152806836T>C	ENST00000370186.1	+	3	554	c.228T>C	c.(226-228)aaT>aaC	p.N76N	ATP2B3_ENST00000349466.2_Silent_p.N76N|ATP2B3_ENST00000393842.1_Silent_p.N76N|ATP2B3_ENST00000370181.2_Silent_p.N76N|ATP2B3_ENST00000359149.3_Silent_p.N76N|ATP2B3_ENST00000263519.4_Silent_p.N76N			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	76					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAACACCAATGACCTGGAGA	0.627000													28	19					0	0	0.003271	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7631629	7631629	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:7631629G>T	ENST00000299492.4	+	6	982	c.594G>T	c.(592-594)caG>caT	p.Q198H	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.Q55H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.Q86H|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.Q40H	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	198					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAGAGAGCAGGAGGAGAAGC	0.502000													43	38					4.42602e-33	7.46022e-33	0.008740	1	0
LRRC7	57554	broad.mit.edu	37	1	70541966	70541966	+	Silent	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:70541966T>C	ENST00000310961.5	+	24	4615	c.4197T>C	c.(4195-4197)gaT>gaC	p.D1399D	LRRC7_ENST00000415775.2_Silent_p.D725D|LRRC7_ENST00000035383.5_Silent_p.D1441D			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1441						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAGTATGGATGGATATCCAG	0.458000													12	70					0	0	0.000978	0	0
EXPH5	23086	broad.mit.edu	37	11	108384059	108384059	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:108384059T>A	ENST00000265843.4	-	6	2285	c.2175A>T	c.(2173-2175)gaA>gaT	p.E725D	EXPH5_ENST00000428840.1_Missense_Mutation_p.E649D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E537D|EXPH5_ENST00000525344.1_Missense_Mutation_p.E718D	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	725					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)		GTTGGGGTATTTCACCTGCCT	0.403000													7	62					0	0	0.001984	0	0
ADAL	161823	broad.mit.edu	37	15	43632517	43632517	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:43632517C>A	ENST00000422466.2	+	7	884	c.310C>A	c.(310-312)Cta>Ata	p.L104I	ADAL_ENST00000389651.4_Missense_Mutation_p.L104I|ADAL_ENST00000428046.3_Missense_Mutation_p.L104I|ADAL_ENST00000562188.1_Missense_Mutation_p.L104I			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	104					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GTACCTGGAACTAAGGAGCAC	0.373000													16	30					7.07596e-05	8.24503e-05	0.006122	1	0
GRAMD1B	57476	broad.mit.edu	37	11	123485517	123485517	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:123485517C>A	ENST00000529750.1	+	16	2190	c.1863C>A	c.(1861-1863)tcC>tcA	p.S621S	GRAMD1B_ENST00000322282.7_Silent_p.S621S|GRAMD1B_ENST00000456860.2_Silent_p.S628S|GRAMD1B_ENST00000450171.2_Silent_p.S312S	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	621						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		AGAGCGTGTCCAAGCTGCTGC	0.567000													10	3					1.76689e-08	2.37954e-08	0.006214	1	0
FAM47B	170062	broad.mit.edu	37	X	34961679	34961679	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:34961679C>A	ENST00000329357.5	+	1	767	c.731C>A	c.(730-732)gCa>gAa	p.A244E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	244	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAGACTCGCGCATCTCATCTC	0.642000													22	78					3.83957e-06	4.8538e-06	0.002780	1	0
MUC16	94025	broad.mit.edu	37	19	9061703	9061703	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:9061703C>A	ENST00000397910.4	-	3	25946	c.25743G>T	c.(25741-25743)gaG>gaT	p.E8581D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8583	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						AGGAGATGCTCTCTGGTAATG	0.522000													15	30					3.27435e-08	4.3658e-08	0.002450	1	0
SLC8A3	6547	broad.mit.edu	37	14	70634240	70634240	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:70634240G>C	ENST00000381269.2	-	2	1653	c.900C>G	c.(898-900)aaC>aaG	p.N300K	SLC8A3_ENST00000534137.1_Missense_Mutation_p.N300K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.N300K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.N300K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.N300K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	300					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGGGCACCAGGTTCCCATCTA	0.483000													24	52					0	0	0.005443	0	0
CSMD2	114784	broad.mit.edu	37	1	34006140	34006140	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:34006140G>T	ENST00000373381.4	-	60	9792	c.9616C>A	c.(9616-9618)Ctg>Atg	p.L3206M		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3182	Sushi 26.					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)				CACTGAGGCAGCTCTCCGGTC	0.587000													43	49					2.43468e-25	3.97862e-25	0.003610	1	0
LAMA4	3910	broad.mit.edu	37	6	112469529	112469529	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:112469529T>G	ENST00000230538.7	-	18	2580	c.2183A>C	c.(2182-2184)cAg>cCg	p.Q728P	LAMA4_ENST00000522006.1_Missense_Mutation_p.Q721P|LAMA4_ENST00000389463.4_Missense_Mutation_p.Q721P|LAMA4_ENST00000424408.2_Missense_Mutation_p.Q721P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	728	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)		CAGGCGCTGCTGGGCATCCCC	0.537000													6	18					0	0	0.001984	0	0
ZMYM5	9205	broad.mit.edu	37	13	20426052	20426052	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr13:20426052T>C	ENST00000337963.4	-	3	533	c.269A>G	c.(268-270)gAa>gGa	p.E90G	ZMYM5_ENST00000382907.4_Missense_Mutation_p.E90G|ZMYM5_ENST00000382905.4_Missense_Mutation_p.E90G	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	90						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTGAGGCTTTTCATTTTTTGA	0.333000													10	19					0	0	0.006214	0	0
MRPS27	23107	broad.mit.edu	37	5	71616013	71616013	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:71616013C>A	ENST00000261413.5	-	1	75	c.36G>T	c.(34-36)ctG>ctT	p.L12L	MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000513900.1_Silent_p.L12L|MRPS27_ENST00000522095.1_Silent_p.L12L|MRPS27_ENST00000457646.4_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	12						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CTTGCCGCGCCAGGAGCATCC	0.592000													22	8					4.26978e-12	6.0545e-12	0.003330	1	0
SLC10A5	347051	broad.mit.edu	37	8	82607198	82607198	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:82607198T>C	ENST00000518568.1	-	1	1211	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	4						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ATAAAAAGTTTTCTAATCATT	0.313000													9	35					0	0	0.006214	0	0
CDH23	64072	broad.mit.edu	37	10	73468898	73468898	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:73468898C>A	ENST00000224721.6	+	26	3170	c.3165C>A	c.(3163-3165)gcC>gcA	p.A1055A		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1050	Cadherin 10.				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						ACCGCGATGCCGTTGTGAGAA	0.627000													41	25					1.30916e-28	2.16578e-28	0.003610	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719315	140719315	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:140719315C>A	ENST00000394576.2	+	1	777	c.777C>A	c.(775-777)acC>acA	p.T259T	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)			TCGTGGGCACCCGGATACTCA	0.537000													57	93					3.07002e-29	5.14228e-29	0.003610	1	0
ASXL3	80816	broad.mit.edu	37	18	31326453	31326453	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:31326453C>T	ENST00000269197.5	+	12	6641	c.6641C>T	c.(6640-6642)tCt>tTt	p.S2214F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGAAATGCTCTTGCCGGCTG	0.517000													36	31					0	0	0.003271	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461086	48461086	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:48461086G>A	ENST00000358536.4	-	11	2878	c.2609C>T	c.(2608-2610)tCa>tTa	p.S870L	PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S870L|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	870					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCATCACCTGAGAGGAGGGT	0.687000													10	36					0	0	0.008291	0	0
OR2T33	391195	broad.mit.edu	37	1	248436905	248436905	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:248436905A>T	ENST00000318021.2	-	1	233	c.212T>A	c.(211-213)cTg>cAg	p.L71Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	71					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)			GGTGGAAACCAGCATCATGTC	0.552000													7	116					0	0	0.008291	0	0
KCTD10	83892	broad.mit.edu	37	12	109898546	109898546	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:109898546C>A	ENST00000228495.6	-	3	563	c.282G>T	c.(280-282)ggG>ggT	p.G94G	KCTD10_ENST00000540411.1_Silent_p.G91G|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	94	BTB.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AAGGCACCGCCCCGTCTCGAA	0.612000													9	44					3.86212e-05	4.55968e-05	0.008291	1	0
PELO	53918	broad.mit.edu	37	5	52096562	52096562	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:52096562C>G	ENST00000274311.2	+	2	1319	c.334C>G	c.(334-336)Ctg>Gtg	p.L112V	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	112					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				CCAGTTCACCCTGGCCAAGAA	0.597000													8	27					0	0	0.003080	0	0
EPS8L3	79574	broad.mit.edu	37	1	110300959	110300959	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:110300959G>T	ENST00000369805.3	-	8	928	c.699C>A	c.(697-699)ccC>ccA	p.P233P	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.P232P|EPS8L3_ENST00000361965.4_Silent_p.P232P	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	232	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGGGTCCTCGGGGGAAGAGG	0.607000													42	91					1.48646e-12	2.13033e-12	0.002522	1	0
FAM171A1	221061	broad.mit.edu	37	10	15326031	15326031	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:15326031G>A	ENST00000378116.4	-	2	177	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	57						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						CCTGGTTGGTGAAGATCTCGA	0.552000													28	50					0	0	0.006320	0	0
TRIT1	54802	broad.mit.edu	37	1	40312906	40312906	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:40312906T>G	ENST00000316891.5	-	8	1006	c.992A>C	c.(991-993)aAc>aCc	p.N331T	TRIT1_ENST00000441669.2_Missense_Mutation_p.N249T|TRIT1_ENST00000545233.1_Missense_Mutation_p.N85T|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Missense_Mutation_p.N27T|TRIT1_ENST00000537223.1_Missense_Mutation_p.N27T|TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000491865.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	331	Interaction with substrate tRNA (By similarity).				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAAAAAACGGTTTTTAACCCA	0.358000													22	52					0	0	0.003954	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869386	36869386	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr20:36869386A>T	ENST00000279024.4	-	3	1418	c.1147T>A	c.(1147-1149)Tgt>Agt	p.C383S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	383										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCAGAGGCACAGTCCAGTGCG	0.557000													82	63					0	0	0.003610	0	0
BCKDHB	594	broad.mit.edu	37	6	80878701	80878701	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:80878701A>C	ENST00000545529.1	+	5	615	c.587A>C	c.(586-588)cAt>cCt	p.H196P	BCKDHB_ENST00000369760.4_Missense_Mutation_p.H196P|BCKDHB_ENST00000356489.5_Missense_Mutation_p.H196P|BCKDHB_ENST00000320393.6_Missense_Mutation_p.H196P			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	196					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GCTCTCTATCATTCTCAGAGT	0.433000													19	54					0	0	0.007413	0	0
ZNF432	9668	broad.mit.edu	37	19	52537513	52537513	+	Silent	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:52537513A>G	ENST00000594154.1	-	5	1631	c.1419T>C	c.(1417-1419)atT>atC	p.I473I	ZNF432_ENST00000221315.5_Silent_p.I473I			O94892	ZN432_HUMAN	zinc finger protein 432	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCTGATGTACAATCAGCCGAC	0.463000													8	28					0	0	0.003080	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206652	104206652	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:104206652C>T	ENST00000202556.9	-	12	2383	c.2101G>A	c.(2101-2103)Gcg>Acg	p.A701T	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.A120T|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	701	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGCCGGGGCGCGTTGGCCAGC	0.667000													7	133					0	0	0.001984	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748668	71748668	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr16:71748668T>G	ENST00000393524.2	-	1	764	c.31A>C	c.(31-33)Aat>Cat	p.N11H	PHLPP2_ENST00000568954.1_Missense_Mutation_p.N11H|PHLPP2_ENST00000567016.1_Missense_Mutation_p.N46H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.N11H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.N11H			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	11						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTTCTCCTATTCAAACAATTT	0.388000													22	21					0	0	0.003330	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533394	94533394	+	Silent	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:94533394C>G	ENST00000433060.2	+	3	1179	c.1038C>G	c.(1036-1038)gtC>gtG	p.V346V	AMOTL1_ENST00000317837.9_Silent_p.V346V|AMOTL1_ENST00000317829.8_Silent_p.V296V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	346						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACGAGATGGTCAAGCCCTACC	0.567000													28	190					0	0	0.007291	0	0
COL3A1	1281	broad.mit.edu	37	2	189855033	189855033	+	Splice_Site	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:189855033G>T	ENST00000304636.3	+	10	915	c.744_splice	c.e10-1	p.G249_splice	COL3A1_ENST00000317840.5_Splice_Site_p.G249_splice	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	249	Triple-helical region.		G -> D (in EDS4).|G -> V (in EDS4).		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)	TTATTTTTAGGGTATCAAAGG	0.333000													4	6					0.00909568	0.0098292	0.009096	1	0
ZNF800	168850	broad.mit.edu	37	7	127013707	127013707	+	Silent	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:127013707T>A	ENST00000393313.1	-	5	2274	c.1683A>T	c.(1681-1683)atA>atT	p.I561I	ZNF800_ENST00000393312.1_Silent_p.I561I|ZNF800_ENST00000265827.3_Silent_p.I561I			Q2TB10	ZN800_HUMAN	zinc finger protein 800	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TAGGCTTTTTTATAGCTCTGA	0.373000													30	33					0	0	0.006320	0	0
SLC25A33	84275	broad.mit.edu	37	1	9640262	9640262	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:9640262G>A	ENST00000302692.6	+	6	943	c.733G>A	c.(733-735)Ggc>Agc	p.G245S		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	245					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTTCTAAGGGCTGTGCCTC	0.428000													32	11					0	0	0.004289	0	0
KPRP	448834	broad.mit.edu	37	1	152733006	152733006	+	Silent	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:152733006T>A	ENST00000368773.1	+	2	1000	c.942T>A	c.(940-942)atT>atA	p.I314I	KPRP_ENST00000606109.1_Silent_p.I314I	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	314	Pro-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)			GCCGCCCCATTTCAAGCTGCT	0.587000													70	45					0	0	0.003610	0	0
TBL1X	6907	broad.mit.edu	37	X	9683028	9683028	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:9683028C>A	ENST00000217964.7	+	17	2332	c.1692C>A	c.(1690-1692)agC>agA	p.S564R	TBL1X_ENST00000380961.1_Missense_Mutation_p.S513R|TBL1X_ENST00000424279.1_Missense_Mutation_p.S513R|TBL1X_ENST00000407597.2_Missense_Mutation_p.S564R|TBL1X_ENST00000536365.1_Missense_Mutation_p.S513R	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	564					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGGGTGCCAGCGCGTCCGACG	0.597000													6	19					8.12818e-05	9.38945e-05	0.001984	1	0
LRRC7	57554	broad.mit.edu	37	1	70397207	70397207	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:70397207C>A	ENST00000310961.5	+	9	984	c.566C>A	c.(565-567)gCc>gAc	p.A189D	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.A184D			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	184						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CACAAACTGGCCCAGTTGGAA	0.403000													13	16					6.72482e-11	9.3381e-11	0.003163	1	0
MTHFD2	10797	broad.mit.edu	37	2	74441254	74441254	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:74441254G>A	ENST00000394053.2	+	8	1018	c.938G>A	c.(937-939)gGc>gAc	p.G313D	MTHFD2_ENST00000409804.1_Missense_Mutation_p.G185D|MTHFD2_ENST00000394050.3_Missense_Mutation_p.G149D|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.G211D|MTHFD2_ENST00000409601.1_Missense_Mutation_p.G230D	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	313					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGAGGTGTTGGCCCCATGACA	0.463000													28	106					0	0	0.005443	0	0
OR5M10	390167	broad.mit.edu	37	11	56345063	56345063	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:56345063C>A	ENST00000526812.2	-	1	200	c.135G>T	c.(133-135)atG>atT	p.M45I		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCAGCAGGATCATGCACAGGT	0.473000													44	17					1.03325e-14	1.53839e-14	0.002852	1	0
GABRG1	2565	broad.mit.edu	37	4	46043081	46043081	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:46043081G>C	ENST00000295452.4	-	9	1489	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	441					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTAGAATAAGAGTCAATTTT	0.393000													54	27					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215822056	215822056	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:215822056G>T	ENST00000366943.2	-	66	14782	c.14396C>A	c.(14395-14397)aCt>aAt	p.T4799N	USH2A_ENST00000307340.3_Missense_Mutation_p.T4799N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4799	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)		AGAGTAGTTAGTGAAGGCTTG	0.527000										HNSCC(13;0.011)			12	40					0.00136819	0.00154066	0.001368	1	0
DOCK9	23348	broad.mit.edu	37	13	99489762	99489762	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr13:99489762T>G	ENST00000376460.1	-	39	4311	c.4231A>C	c.(4231-4233)Aca>Cca	p.T1411P	DOCK9_ENST00000339416.2_Missense_Mutation_p.T1412P|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1412					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACGCCAATGTAAATAGAGAA	0.433000													8	13					0	0	0.004482	0	0
VSNL1	7447	broad.mit.edu	37	2	17836533	17836533	+	Missense_Mutation	SNP	C	C	G	rs146113368		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:17836533C>G	ENST00000406397.1	+	4	973	c.448C>G	c.(448-450)Cga>Gga	p.R150G	VSNL1_ENST00000404666.2_Missense_Mutation_p.R150G|VSNL1_ENST00000295156.4_Missense_Mutation_p.R150G			P62760	VISL1_HUMAN	visinin-like 1	150	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCTGAGCAGCGAGTAGACAA	0.413000													14	32					0	0	0.001855	0	0
ALMS1	7840	broad.mit.edu	37	2	73681086	73681086	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:73681086T>G	ENST00000264448.6	+	8	7540	c.7429T>G	c.(7429-7431)Tca>Gca	p.S2477A	ALMS1_ENST00000377715.1_Missense_Mutation_p.S2477A|ALMS1_ENST00000409009.1_Missense_Mutation_p.S2435A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2477					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGTGTAGATTCACTGGCTGC	0.448000													6	24					0	0	0.001168	0	0
TAAR6	319100	broad.mit.edu	37	6	132892340	132892340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:132892340G>T	ENST00000275198.1	+	1	880	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	294						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CTGTATTTATGAGATTTGCTG	0.353000													63	19					3.41413e-29	5.68315e-29	0.003610	1	0
LRRC7	57554	broad.mit.edu	37	1	70504740	70504740	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:70504740T>A	ENST00000310961.5	+	22	3552	c.3134T>A	c.(3133-3135)gTg>gAg	p.V1045E	LRRC7_ENST00000415775.2_Missense_Mutation_p.V324E|LRRC7_ENST00000035383.5_Missense_Mutation_p.V1040E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1040						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAAGGATCAGTGGAAGTGAAA	0.443000													30	31					0	0	0.002096	0	0
TRPC1	7220	broad.mit.edu	37	3	142467281	142467281	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:142467281A>G	ENST00000273482.6	+	3	900	c.509A>G	c.(508-510)aAg>aGg	p.K170R	TRPC1_ENST00000476941.1_Missense_Mutation_p.K204R	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	204					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AAAAACAAAAAGGATAGCCTC	0.338000													35	39					0	0	0.003271	0	0
NMS	129521	broad.mit.edu	37	2	101089998	101089998	+	Silent	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:101089998T>G	ENST00000376865.1	+	3	187	c.180T>G	c.(178-180)ccT>ccG	p.P60P		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	60					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CTCGCCAACCTAAGGTAAAAA	0.348000													4	12					0	0	0.000602	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712374	1712374	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:1712374G>C	ENST00000313871.3	+	2	215	c.19G>C	c.(19-21)Gtg>Ctg	p.V7L	AKAP17A_ENST00000381261.3_Missense_Mutation_p.V7L	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	7					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGCTACCATCGTGCACGACAC	0.622000													60	131					0	0	0.003610	0	0
ITFG2	55846	broad.mit.edu	37	12	2930756	2930756	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:2930756C>G	ENST00000228799.2	+	8	980	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V	ITFG2_ENST00000542548.1_Missense_Mutation_p.L169V|ITFG2_ENST00000419778.2_Missense_Mutation_p.L104V	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	281										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCTGTGCACCCTGGATGGTGA	0.612000													33	65					0	0	0.003755	0	0
PNPLA8	50640	broad.mit.edu	37	7	108155242	108155242	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:108155242C>A	ENST00000426128.2	-	2	819	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	PNPLA8_ENST00000436062.1_Missense_Mutation_p.D232Y|PNPLA8_ENST00000453144.1_Missense_Mutation_p.D132Y|PNPLA8_ENST00000422087.1_Missense_Mutation_p.D232Y|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.D232Y|PNPLA8_ENST00000388728.5_Missense_Mutation_p.D232Y	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	232					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCTGATTTGTCCCGGAAATGT	0.343000													22	19					1.64113e-05	1.98119e-05	0.010504	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43846406	43846406	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:43846406C>A	ENST00000389420.3	-	13	1852	c.1853G>T	c.(1852-1854)cGa>cTa	p.R618L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R618L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	618	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCTTCTCTCGAAAGTCTTG	0.423000													15	22					1.49906e-05	1.81786e-05	0.002450	1	0
PLGLA	285189	broad.mit.edu	37	2	107007448	107007448	+	RNA	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:107007448T>A	ENST00000484422.1	+	0	297																											CTGTCAAAAATGGAGTTCCAC	0.443000													10	6					0	0	0.000978	0	0
NPAP1	23742	broad.mit.edu	37	15	24921213	24921213	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:24921213G>T	ENST00000329468.2	+	1	673	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CATCTTCGTCGCCCCTAAGAG	0.716000													16	36					5.01169e-05	5.86521e-05	0.004990	1	0
BEST3	144453	broad.mit.edu	37	12	70087509	70087509	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:70087509C>T	ENST00000330891.5	-	4	652	c.426G>A	c.(424-426)tcG>tcA	p.S142S	BEST3_ENST00000331471.4_Silent_p.S142S|BEST3_ENST00000393365.1_Silent_p.S36S|BEST3_ENST00000266661.4_Silent_p.S36S|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000553096.1_Silent_p.S36S|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000551160.1_Silent_p.S36S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	142						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGTGCTCACCGAGCGAAAGA	0.527000													5	48					0	0	0.001984	0	0
TMTC4	84899	broad.mit.edu	37	13	101277801	101277801	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr13:101277801G>C	ENST00000342624.5	-	15	2082	c.1824C>G	c.(1822-1824)aaC>aaG	p.N608K	TMTC4_ENST00000328767.5_Missense_Mutation_p.N478K|TMTC4_ENST00000376234.3_Missense_Mutation_p.N589K|TMTC4_ENST00000462211.1_5'UTR	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	589						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACGCCCGAGGTTGTAGTAAC	0.458000													22	26					0	0	0.003954	0	0
TRPS1	7227	broad.mit.edu	37	8	116631998	116631998	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:116631998G>T	ENST00000395715.3	-	3	904	c.327C>A	c.(325-327)aaC>aaA	p.N109K	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.N96K|TRPS1_ENST00000520276.1_Missense_Mutation_p.N100K|TRPS1_ENST00000220888.5_Missense_Mutation_p.N96K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	96					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGAGGGAAAGTTTCCTCCCT	0.478000									Langer-Giedion syndrome				17	122					5.3912e-06	6.7516e-06	0.006122	1	0
TEAD4	7004	broad.mit.edu	37	12	3129844	3129844	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:3129844C>T	ENST00000359864.2	+	9	818	c.628C>T	c.(628-630)Ccg>Tcg	p.P210S	TEAD4_ENST00000397122.2_Missense_Mutation_p.P81S|TEAD4_ENST00000358409.2_Missense_Mutation_p.P167S	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	210					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCTGCGCCCCCGGCACCCCC	0.672000													39	24					0	0	0.006230	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128815	248128815	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:248128815T>G	ENST00000366480.3	+	1	281	c.182T>G	c.(181-183)aTc>aGc	p.I61S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATCATGCTGATCCACCTCATT	0.468000													78	127					0	0	0.003610	0	0
GDF10	2662	broad.mit.edu	37	10	48438671	48438671	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:48438671G>T	ENST00000224605.2	-	1	305	c.40C>A	c.(40-42)Ccc>Acc	p.P14T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	14					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						agcagcTGGGGCCCGGGTCCC	0.731000													9	9					1.58986e-06	2.01935e-06	0.008291	1	0
PLCB2	5330	broad.mit.edu	37	15	40586571	40586571	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:40586571C>A	ENST00000260402.3	-	19	2206	c.1957G>T	c.(1957-1959)Ggc>Tgc	p.G653C	PLCB2_ENST00000456256.2_Missense_Mutation_p.G653C|PLCB2_ENST00000557821.1_Missense_Mutation_p.G649C	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	653	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGGAGGTAGCCGCTCTGCCCG	0.597000													7	33					0.00198382	0.00218791	0.001984	1	0
CNBD1	168975	broad.mit.edu	37	8	87878811	87878811	+	Splice_Site	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:87878811A>T	ENST00000518476.1	+	1	139	c.88_splice	c.e1+1	p.N30_splice		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	30										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CAGTATACCAAGTGAGTGGGA	0.438000													8	18					0	0	0.006214	0	0
ITGA8	8516	broad.mit.edu	37	10	15655727	15655727	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:15655727C>T	ENST00000378076.3	-	15	1838	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	495					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCATTGGGTGCAGCAGAAGCT	0.463000													58	67					0	0	0.003610	0	0
MBD5	55777	broad.mit.edu	37	2	149227121	149227121	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:149227121A>T	ENST00000407073.1	+	9	2606	c.1609A>T	c.(1609-1611)Agc>Tgc	p.S537C	MBD5_ENST00000404807.1_Missense_Mutation_p.S537C	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	537						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AAATACCCCAAGCAGTGCAGC	0.438000													24	40					0	0	0.002299	0	0
STK11	6794	broad.mit.edu	37	19	1220370	1220370	+	Splice_Site	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:1220370A>T	ENST00000326873.7	+	4	1637		c.e4-1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGCCCGCAGGTACTTCTG	0.652000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			15	1					0	0	0.004007	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398902	90398902	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:90398902G>C	ENST00000337338.5	+	3	682	c.275G>C	c.(274-276)gGg>gCg	p.G92A	LRRC8D_ENST00000394593.3_Missense_Mutation_p.G92A	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	92						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GACCAAGATGGGCGGACAACA	0.498000													4	39					0	0	0.009096	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298852	125298852	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:125298852G>T	ENST00000538699.1	-	2	1136	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G	DCAF12L2_ENST00000360028.2_Silent_p.G352G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	352										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGACCGCACGCCTGTGCCAC	0.632000													14	75					3.27435e-08	4.3658e-08	0.002450	1	0
TCP10	6953	broad.mit.edu	37	6	167789539	167789539	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:167789539C>A	ENST00000366827.2	-	6	814	c.603G>T	c.(601-603)ccG>ccT	p.P201P	TCP10_ENST00000397829.4_Silent_p.P201P			Q12799	TCP10_HUMAN	t-complex 10	228						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGAGTTTTGCGGACTTCGGG	0.612000													8	11					3.09899e-07	4.01221e-07	0.004482	1	0
ASXL3	80816	broad.mit.edu	37	18	31326451	31326451	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:31326451C>T	ENST00000269197.5	+	12	6639	c.6639C>T	c.(6637-6639)tgC>tgT	p.C2213C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACTGAAATGCTCTTGCCGGC	0.522000													34	28					0	0	0.002445	0	0
PCNT	5116	broad.mit.edu	37	21	47808656	47808656	+	Splice_Site	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr21:47808656G>T	ENST00000359568.5	+	18	3571		c.e18-1		PCNT_ENST00000480896.1_Splice_Site	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCCTGTCTCAGAGGGGCCCTC	0.667000													25	39					5.45727e-16	8.26298e-16	0.008361	1	0
SPRR2G	6706	broad.mit.edu	37	1	153122499	153122499	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:153122499G>T	ENST00000368748.4	-	2	126	c.88C>A	c.(88-90)Ccg>Acg	p.P30T		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	30	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCACTTCGGGGGTGGACAT	0.607000													77	86					5.04879e-28	8.30107e-28	0.003610	1	0
HHIPL1	84439	broad.mit.edu	37	14	100129272	100129272	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:100129272G>A	ENST00000330710.5	+	6	1660	c.1562G>A	c.(1561-1563)tGc>tAc	p.C521Y	HHIPL1_ENST00000357223.2_Missense_Mutation_p.C521Y	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	521					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGTGAGATCTGCATGGGCCAC	0.592000													6	56					0	0	0.001168	0	0
SCN10A	6336	broad.mit.edu	37	3	38739794	38739794	+	Silent	SNP	G	G	A	rs142804903		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:38739794G>A	ENST00000449082.2	-	27	4916	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1639					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAACATGTCGTCGATGCCAG	0.547000													31	98					0	0	0.003271	0	0
CSMD1	64478	broad.mit.edu	37	8	2796146	2796146	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:2796146C>A	ENST00000520002.1	-	71	11214	c.10659G>T	c.(10657-10659)agG>agT	p.R3553S	CSMD1_ENST00000602723.1_Missense_Mutation_p.R3376S|CSMD1_ENST00000602557.1_Missense_Mutation_p.R3553S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3375S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3552S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R3376S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3553						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)		TTGTGTCAAACCTCACAGCCT	0.463000													9	5					5.68852e-11	7.94023e-11	0.004482	1	0
NAT10	55226	broad.mit.edu	37	11	34139802	34139802	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:34139802C>T	ENST00000257829.3	+	7	839	c.633C>T	c.(631-633)tcC>tcT	p.S211S	NAT10_ENST00000531159.2_Silent_p.S139S|NAT10_ENST00000527971.1_Silent_p.S211S	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	211						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCATCTCCTCCCACGTTGCCA	0.542000													32	34					0	0	0.006230	0	0
LPIN2	9663	broad.mit.edu	37	18	2922113	2922113	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:2922113G>A	ENST00000261596.4	-	17	2497	c.2259C>T	c.(2257-2259)gaC>gaT	p.D753D		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	753	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTGTGCCCTTGTCATTGACCC	0.607000													7	51					0	0	0.001984	0	0
BRWD3	254065	broad.mit.edu	37	X	79947425	79947425	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:79947425C>A	ENST00000373275.4	-	30	3594	c.3378G>T	c.(3376-3378)ttG>ttT	p.L1126F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1126										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAAAGCAGTCAATTCTTCCT	0.423000													8	18					1.06961e-07	1.39832e-07	0.003080	1	0
IFNE	338376	broad.mit.edu	37	9	21481120	21481120	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:21481120G>A	ENST00000448696.3	-	1	1192	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	192					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						TCGTTCAAGGGTCTTCCTTGT	0.478000													34	48					0	0	0.003755	0	0
KIAA0586	9786	broad.mit.edu	37	14	58965518	58965518	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:58965518G>T	ENST00000423743.3	+	28	4134	c.3876G>T	c.(3874-3876)gtG>gtT	p.V1292V	KIAA0586_ENST00000354386.6_Silent_p.V1389V|KIAA0586_ENST00000261244.5_Silent_p.V1260V|KIAA0586_ENST00000556134.1_Silent_p.V1321V|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1260										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAACAGTGTGGGTGAACTTA	0.378000													9	18					3.86212e-05	4.55968e-05	0.008291	1	0
DOCK8	81704	broad.mit.edu	37	9	328110	328110	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:328110A>G	ENST00000432829.2	+	9	1095	c.779A>G	c.(778-780)cAg>cGg	p.Q260R	DOCK8_ENST00000469391.1_Missense_Mutation_p.Q260R|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q328R	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	328					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCATCAAGTCAGGCGAGATCT	0.468000													9	18					0	0	0.004482	0	0
PSG7	5676	broad.mit.edu	37	19	43439788	43439788	+	RNA	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:43439788G>T	ENST00000446844.3	-	0	287				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CTTTGTACCAGATGTGGCCAG	0.438000													115	84					1.76152e-51	3.0262e-51	0.003610	1	0
CYLD	1540	broad.mit.edu	37	16	50830353	50830353	+	Silent	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr16:50830353A>G	ENST00000540145.1	+	19	3220	c.2805A>G	c.(2803-2805)gcA>gcG	p.A935A	RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000398568.2_Silent_p.A932A|CYLD_ENST00000311559.9_Silent_p.A935A|CYLD_ENST00000564326.1_Silent_p.A932A|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Silent_p.A750A|CYLD_ENST00000569418.1_Silent_p.A932A|CYLD_ENST00000427738.3_Silent_p.A935A			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	935					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGGCTGTGCACGAAGACTGC	0.468000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				20	32					0	0	0.007413	0	0
POTEG	404785	broad.mit.edu	37	14	19553788	19553788	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:19553788C>T	ENST00000409832.3	+	1	424	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	124										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGACTACGACGACAGCGCTT	0.592000													67	607					0	0	0.003610	0	0
RLF	6018	broad.mit.edu	37	1	40701680	40701680	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:40701680C>T	ENST00000372771.4	+	8	1333	c.1306C>T	c.(1306-1308)Cca>Tca	p.P436S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	436					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATATTTGCAACCAGATCAAAA	0.373000													89	82					0	0	0.003610	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907724	164907724	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:164907724A>T	ENST00000475390.1	-	2	1338	c.895T>A	c.(895-897)Tca>Aca	p.S299T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S299T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	299						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTACTTGATGACGAATGTGGA	0.438000										HNSCC(40;0.11)			20	62					0	0	0.008871	0	0
DSG3	1830	broad.mit.edu	37	18	29046694	29046694	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:29046694T>G	ENST00000257189.4	+	11	1696	c.1613T>G	c.(1612-1614)gTa>gGa	p.V538G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	538					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGCCTGCCGTATGGAGTATC	0.408000													12	50					0	0	0.001368	0	0
SSPO	23145	broad.mit.edu	37	7	149512270	149512270	+	RNA	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:149512270G>T	ENST00000378016.2	+	0	10590							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TAGACTGCGGGGGTGGCCAGA	0.667000													20	28					1.85244e-09	2.54592e-09	0.003330	1	0
RAI2	10742	broad.mit.edu	37	X	17819428	17819428	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:17819428G>T	ENST00000545871.1	-	3	1163	c.703C>A	c.(703-705)Cct>Act	p.P235T	RAI2_ENST00000331511.1_Missense_Mutation_p.P235T|RAI2_ENST00000415486.3_Missense_Mutation_p.P185T|RAI2_ENST00000451717.1_Missense_Mutation_p.P235T|RAI2_ENST00000360011.1_Missense_Mutation_p.P235T	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	235	Pro-rich.				embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACGATTACAGGATACGGCACC	0.607000													15	51					7.93312e-07	1.01242e-06	0.002450	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													3	26					0	0	0.009096	0	0
NT5DC1	221294	broad.mit.edu	37	6	116429571	116429571	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:116429571A>C	ENST00000319550.4	+	3	312	c.230A>C	c.(229-231)aAa>aCa	p.K77T		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	77							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AACTTCCTTAAACTTGCAAAT	0.343000													27	6					0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9082974	9082974	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:9082974G>T	ENST00000397910.4	-	1	9044	c.8841C>A	c.(8839-8841)gcC>gcA	p.A2947A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2948	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						TTGCACTTATGGCCTTTGTGG	0.493000													18	65					1.99824e-07	2.59965e-07	0.004990	1	0
PAK3	5063	broad.mit.edu	37	X	110439078	110439078	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:110439078A>T	ENST00000519681.1	+	16	1624	c.1182A>T	c.(1180-1182)caA>caT	p.Q394H	PAK3_ENST00000417227.1_Missense_Mutation_p.Q394H|PAK3_ENST00000518291.1_Missense_Mutation_p.Q409H|PAK3_ENST00000372007.4_Missense_Mutation_p.Q373H|PAK3_ENST00000425146.1_Missense_Mutation_p.Q373H|PAK3_ENST00000360648.4_Missense_Mutation_p.Q409H|PAK3_ENST00000372010.1_Missense_Mutation_p.Q388H|PAK3_ENST00000446737.1_Missense_Mutation_p.Q373H|PAK3_ENST00000262836.4_Missense_Mutation_p.Q388H			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	388	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGTGCCTGCAAGCTTTGGATT	0.318000										TSP Lung(19;0.15)			19	87					0	0	0.001882	0	0
COL2A1	1280	broad.mit.edu	37	12	48369227	48369227	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:48369227G>A	ENST00000380518.3	-	51	3923	c.3759C>T	c.(3757-3759)gcC>gcT	p.A1253A	COL2A1_ENST00000337299.6_Silent_p.A1184A|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1253	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CATCCACCTCGGCGTCATGCT	0.647000													17	74					0	0	0.010504	0	0
PAX7	5081	broad.mit.edu	37	1	19062154	19062154	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:19062154C>T	ENST00000420770.2	+	8	1267	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	PAX7_ENST00000375375.3_Missense_Mutation_p.A395V|PAX7_ENST00000400661.3_Missense_Mutation_p.A393V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	395					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		AACCCCAGTGCGGTGCCCCCG	0.652000			T	FOXO1A	alveolar rhabdomyosarcoma								18	43					0	0	0.004990	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64625273	64625273	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:64625273C>G	ENST00000536360.1	-	9	1968	c.1155G>C	c.(1153-1155)agG>agC	p.R385S				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	385	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TGCTGCAGCTCCTTTCAGGCT	0.413000													25	9					0	0	0.008361	0	0
USP35	57558	broad.mit.edu	37	11	77911202	77911202	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:77911202C>T	ENST00000529308.1	+	5	1221	c.960C>T	c.(958-960)ccC>ccT	p.P320P	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.P51P|USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	320					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGCTGTACCCCATCGTCCGGG	0.582000													15	118					0	0	0.004007	0	0
HSPG2	3339	broad.mit.edu	37	1	22211527	22211527	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:22211527C>A	ENST00000374695.3	-	11	1413	c.1334G>T	c.(1333-1335)gGc>gTc	p.G445V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	445	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGGATGTGGCCCCAGTTGAG	0.652000													13	17					0.00010058	0.000115194	0.001368	1	0
PSG5	5673	broad.mit.edu	37	19	43683299	43683299	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:43683299G>T	ENST00000599812.1	-	3	536	c.441C>A	c.(439-441)ccC>ccA	p.P147P	PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000404580.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	147	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGGAGGGCTTGGGAGTTTCCA	0.507000													66	85					5.44642e-36	9.23823e-36	0.003610	1	0
WWP1	11059	broad.mit.edu	37	8	87386340	87386340	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:87386340C>G	ENST00000517970.1	+	3	368	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	WWP1_ENST00000349423.2_Missense_Mutation_p.Q21E|WWP1_ENST00000265428.4_Missense_Mutation_p.Q21E|WWP1_ENST00000341922.2_Missense_Mutation_p.Q21E|WWP1_ENST00000523863.1_3'UTR	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	21	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GTTGCAGTTACAGGTAACTGG	0.343000													28	97					0	0	0.009535	0	0
NEB	4703	broad.mit.edu	37	2	152582033	152582033	+	Silent	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:152582033T>C	ENST00000427231.2	-	6	538	c.336A>G	c.(334-336)ccA>ccG	p.P112P	NEB_ENST00000397345.3_Silent_p.P112P|NEB_ENST00000603639.1_Silent_p.P112P|NEB_ENST00000604864.1_Silent_p.P112P|NEB_ENST00000409198.1_Silent_p.P112P|NEB_ENST00000172853.10_Silent_p.P112P	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	112					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)		TGCTGGCGTATGGCTGTCCTT	0.393000													46	86					0	0	0.003610	0	0
SYTL4	94121	broad.mit.edu	37	X	99956241	99956241	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:99956241C>G	ENST00000372981.1	-	4	597	c.411G>C	c.(409-411)agG>agC	p.R137S	SYTL4_ENST00000455616.1_Missense_Mutation_p.R137S|SYTL4_ENST00000276141.6_Missense_Mutation_p.R137S|SYTL4_ENST00000454200.2_Missense_Mutation_p.R137S|SYTL4_ENST00000263033.5_Missense_Mutation_p.R137S|SYTL4_ENST00000372989.1_Missense_Mutation_p.R137S			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	137					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCAGGGACATCCTGATTATCT	0.453000													7	28					0	0	0.003080	0	0
COL10A1	1300	broad.mit.edu	37	6	116442887	116442887	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:116442887G>T	ENST00000327673.4	-	2	799	c.392C>A	c.(391-393)cCa>cAa	p.P131Q	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P131Q|AL121963.1_ENST00000430695.1_Missense_Mutation_p.G90C			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	131	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TAGGCCAGCTGGTCCAACATC	0.597000													20	5					0.000175454	0.000200092	0.010504	1	0
SAMD14	201191	broad.mit.edu	37	17	48195572	48195572	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:48195572C>T	ENST00000330175.4	-	3	480	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.A55T	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	55										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GCGGAGCTGGCACTGTCCCGA	0.637000													34	47					0	0	0.005524	0	0
FRMD6	122786	broad.mit.edu	37	14	52169297	52169297	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:52169297G>C	ENST00000395718.2	+	5	623	c.338G>C	c.(337-339)aGa>aCa	p.R113T	FRMD6_ENST00000344768.5_Missense_Mutation_p.R121T|FRMD6_ENST00000554167.1_Missense_Mutation_p.R44T|FRMD6_ENST00000356218.4_Missense_Mutation_p.R113T	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	121	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GAAAATGGCAGATTGATCAGG	0.403000													48	179					0	0	0.003610	0	0
ZNF676	163223	broad.mit.edu	37	19	22379435	22379435	+	Translation_Start_Site	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:22379435T>A	ENST00000397121.2	-	1	318	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	1	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCTAACATCACATTCCTA	0.403000													60	21					0	0	0.003610	0	0
FAM47B	170062	broad.mit.edu	37	X	34961678	34961678	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:34961678G>T	ENST00000329357.5	+	1	766	c.730G>T	c.(730-732)Gca>Tca	p.A244S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	244	Pro-rich.							p.A244T(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGAGACTCGCGCATCTCATCT	0.642000													22	79					7.88262e-20	1.24267e-19	0.003330	1	0
PIGT	51604	broad.mit.edu	37	20	44050087	44050087	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr20:44050087G>T	ENST00000279036.6	+	9	1178	c.1098G>T	c.(1096-1098)ggG>ggT	p.G366G	PIGT_ENST00000535404.1_Silent_p.G211G|PIGT_ENST00000543458.2_Silent_p.G310G|PIGT_ENST00000341555.5_Silent_p.G172G|PIGT_ENST00000545755.1_Silent_p.G104G|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000279035.9_Silent_p.G264G	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	366					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGCAGAAGGGGGAGCTGAGCA	0.592000													26	35					4.22769e-11	5.96327e-11	0.006320	1	0
TRPM6	140803	broad.mit.edu	37	9	77411743	77411743	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:77411743A>G	ENST00000451710.3	-	18	2542	c.2305T>C	c.(2305-2307)Tca>Cca	p.S769P	TRPM6_ENST00000360774.1_Missense_Mutation_p.S769P|TRPM6_ENST00000449912.2_Missense_Mutation_p.S764P|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.S764P|TRPM6_ENST00000376864.4_Missense_Mutation_p.S769P|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	769					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAACATGTGACATCTCAGCT	0.378000													14	51					0	0	0.001855	0	0
ZNF480	147657	broad.mit.edu	37	19	52826033	52826033	+	Silent	SNP	T	T	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:52826033T>G	ENST00000595962.1	+	5	1596	c.1530T>G	c.(1528-1530)ccT>ccG	p.P510P	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Silent_p.P467P|ZNF480_ENST00000335090.6_Silent_p.P433P|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GAGAGAAACCTTACAAATGTA	0.393000													6	18					0	0	0.001984	0	0
ACACA	31	broad.mit.edu	37	17	35640264	35640264	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:35640264G>T	ENST00000353139.5	-	5	995	c.514C>A	c.(514-516)Cgg>Agg	p.R172R	ACACA_ENST00000335166.5_Silent_p.R57R|ACACA_ENST00000394406.2_Silent_p.R135R|ACACA_ENST00000360679.3_Silent_p.R77R	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	135	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CGGATAGACCGCATGCATTTC	0.448000													13	44					6.31663e-08	8.33919e-08	0.003163	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	51					0.00909568	0.0098292	0.009096	1	0
VHLL	391104	broad.mit.edu	37	1	156268904	156268904	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:156268904C>T	ENST00000339922.3	-	1	524	c.77G>A	c.(76-78)tGc>tAc	p.C26Y		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	26					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CTCTTCCTGGCAGTACTCTTC	0.632000													47	87					0	0	0.003610	0	0
HOGA1	112817	broad.mit.edu	37	10	99344567	99344567	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:99344567C>T	ENST00000370646.4	+	1	468	c.107C>T	c.(106-108)gCg>gTg	p.A36V	HOGA1_ENST00000370647.4_Missense_Mutation_p.A36V|PI4K2A_ENST00000555577.1_Missense_Mutation_p.A36V|PI4K2A_ENST00000370649.3_Missense_Mutation_p.A36V	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GTGGACATTGCGGGTATCTAC	0.597000													5	112					0	0	0.000602	0	0
DOCK7	85440	broad.mit.edu	37	1	62995065	62995065	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:62995065T>A	ENST00000251157.5	-	30	3697	c.3664A>T	c.(3664-3666)Agt>Tgt	p.S1222C	DOCK7_ENST00000340370.5_Missense_Mutation_p.S1191C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1222					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAGTCGTGACTGGAGAGTAAA	0.413000													27	26					0	0	0.005443	0	0
TRIM51	84767	broad.mit.edu	37	11	55655715	55655715	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:55655715A>G	ENST00000449290.2	+	4	807	c.715A>G	c.(715-717)Aaa>Gaa	p.K239E	TRIM51_ENST00000244891.3_Missense_Mutation_p.K96E	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	239						intracellular	zinc ion binding										AATGTGCCATAAAGCAGATGT	0.443000													13	14					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	114326875	114326875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:114326875G>T	ENST00000297405.5	-	2	570	c.326C>A	c.(325-327)tCa>tAa	p.S109*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S69*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S109*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S109*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	109	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						TAGAGCAAATGACTGAAAAAC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	65					2.44723e-14	3.62352e-14	0.004656	1	0
HDC	3067	broad.mit.edu	37	15	50545802	50545802	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:50545802G>T	ENST00000267845.3	-	7	1184	c.782C>A	c.(781-783)cCc>cAc	p.P261H	HDC_ENST00000543581.1_Missense_Mutation_p.P261H	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	261					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTTACAGATGGGGCCCAGCTC	0.478000													24	40					2.50493e-22	4.04411e-22	0.004656	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39911746	39911746	+	Silent	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:39911746A>T	ENST00000409794.3	+	15	2329	c.1479A>T	c.(1477-1479)ccA>ccT	p.P493P	PLEKHG2_ENST00000409797.2_Silent_p.P493P|PLEKHG2_ENST00000425673.1_Intron|PLEKHG2_ENST00000458508.2_Silent_p.P434P|PLEKHG2_ENST00000378550.1_Silent_p.P493P	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	493					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCATGTTCCCACAGAACGGTC	0.637000													11	9					0	0	0.000978	0	0
ZNF835	90485	broad.mit.edu	37	19	57175427	57175427	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:57175427G>A	ENST00000537055.2	-	2	1371	c.1140C>T	c.(1138-1140)caC>caT	p.H380H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCACGAGGCGGTGCTGGAGGA	0.672000													3	24					0	0	0.004672	0	0
NLGN3	54413	broad.mit.edu	37	X	70373331	70373331	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:70373331C>A	ENST00000374051.3	+	3	784	c.462C>A	c.(460-462)tcC>tcA	p.S154S	NLGN3_ENST00000536169.1_Intron|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.S174S	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	174					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCCCAGGATCCGGCGCTAAGA	0.557000													6	16					1.06961e-07	1.39832e-07	0.003080	1	0
HPS5	11234	broad.mit.edu	37	11	18306904	18306904	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:18306904G>A	ENST00000396253.3	-	19	3060	c.2598C>T	c.(2596-2598)tgC>tgT	p.C866C	HPS5_ENST00000537258.1_Silent_p.C87C|HPS5_ENST00000438420.2_Silent_p.C866C|HPS5_ENST00000349215.3_Silent_p.C980C|HPS5_ENST00000352460.3_Intron	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	980						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						CACAAGACCTGCAGATGTCTG	0.348000									Hermansky-Pudlak syndrome				21	9					0	0	0.001882	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533413	94533413	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:94533413C>G	ENST00000433060.2	+	3	1198	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E	AMOTL1_ENST00000317837.9_Missense_Mutation_p.Q353E|AMOTL1_ENST00000317829.8_Missense_Mutation_p.Q303E	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	353						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCCTGCTCCTCAGCCTGTGAG	0.567000													25	176					0	0	0.003330	0	0
UBBP4	23666	broad.mit.edu	37	17	21731186	21731186	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:21731186A>G	ENST00000584755.1	+	2	885	c.488A>G	c.(487-489)aAg>aGg	p.K163R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.K163R|UBBP4_ENST00000584398.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CTGACCGGCAAGACCATCACC	0.532000													10	83					0	0	0.000978	0	0
ITFG2	55846	broad.mit.edu	37	12	2930955	2930955	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:2930955C>T	ENST00000228799.2	+	9	1084	c.945C>T	c.(943-945)gtC>gtT	p.V315V	ITFG2_ENST00000542548.1_Silent_p.V203V|ITFG2_ENST00000419778.2_Silent_p.V138V	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	315										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AACTGGATGTCACCGTGAGTG	0.502000													47	79					0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31326095	31326095	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:31326095G>A	ENST00000269197.5	+	12	6283	c.6283G>A	c.(6283-6285)Gaa>Aaa	p.E2095K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2095					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGCAGCTGTGAACTGGGCAT	0.408000													46	40					0	0	0.003610	0	0
AMACR	23600	broad.mit.edu	37	5	34004754	34004754	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:34004754C>A	ENST00000335606.6	-	3	565	c.477G>T	c.(475-477)atG>atT	p.M159I	AMACR_ENST00000514195.1_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000382085.3_Missense_Mutation_p.M159I|AMACR_ENST00000502637.1_Missense_Mutation_p.M159I|AMACR_ENST00000382072.2_Intron	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	159					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						CCAGTGCACACATAAGGCCAC	0.463000													18	42					5.01169e-05	5.86521e-05	0.004990	1	0
OR2L2	26246	broad.mit.edu	37	1	248201900	248201900	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:248201900G>A	ENST00000366479.2	+	1	427	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	111					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)			AGTTGCAGAAGGGCTGCTCCT	0.423000													73	45					0	0	0.003610	0	0
DMD	1756	broad.mit.edu	37	X	32380967	32380967	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:32380967G>T	ENST00000357033.4	-	37	5469	c.5263C>A	c.(5263-5265)Ccc>Acc	p.P1755T	DMD_ENST00000378677.2_Missense_Mutation_p.P1751T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1755	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAGATTTGGGGCTCTACTAAT	0.473000													46	40					2.81731e-22	4.49428e-22	0.003610	1	0
PRUNE2	158471	broad.mit.edu	37	9	79323992	79323992	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:79323992G>A	ENST00000428286.1	-	8	3321	c.2121C>T	c.(2119-2121)tcC>tcT	p.S707S	PRUNE2_ENST00000376718.3_Silent_p.S1066S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1066					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATCCTCCATGGAGATATTCT	0.453000													18	34					0	0	0.004990	0	0
ZNF234	10780	broad.mit.edu	37	19	44661481	44661481	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:44661481C>T	ENST00000426739.2	+	6	1570	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	ZNF234_ENST00000592437.1_Missense_Mutation_p.R438C	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TAAAGCCTTCCGTCAGAGTTC	0.418000													6	33					0	0	0.001168	0	0
C1QB	713	broad.mit.edu	37	1	22986050	22986050	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:22986050C>A	ENST00000509305.1	+	2	441	c.95C>A	c.(94-96)cCc>cAc	p.P32H	C1QB_ENST00000314933.6_Missense_Mutation_p.P34H			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	34					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCACCGGGCCCCCAGCCATC	0.597000													6	12					0.00198382	0.00218791	0.001984	1	0
SLC25A32	81034	broad.mit.edu	37	8	104420013	104420013	+	Splice_Site	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:104420013C>A	ENST00000297578.4	-	2	321		c.e2-1		SLC25A32_ENST00000543107.1_Splice_Site	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CCATCACTCACTGCATCAAGG	0.373000													50	39					7.05377e-20	1.11859e-19	0.003610	1	0
VN1R2	317701	broad.mit.edu	37	19	53761983	53761983	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:53761983T>A	ENST00000341702.3	+	1	439	c.355T>A	c.(355-357)Tac>Aac	p.Y119N		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	119					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTTTAGGGGATACAAGCCAAG	0.428000													11	6					0	0	0.001368	0	0
C1QB	713	broad.mit.edu	37	1	22986051	22986051	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:22986051C>A	ENST00000509305.1	+	2	442	c.96C>A	c.(94-96)ccC>ccA	p.P32P	C1QB_ENST00000314933.6_Silent_p.P34P			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	34					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCACCGGGCCCCCAGCCATCC	0.597000													6	12					0.00198382	0.00218791	0.001984	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140711076	140711076	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:140711076G>T	ENST00000517417.1	+	1	825	c.825G>T	c.(823-825)ggG>ggT	p.G275G	PCDHGA1_ENST00000378105.3_Silent_p.G275G	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)			GAGCCAATGGGGAAGTAACGT	0.438000													23	36					3.5997e-14	5.27169e-14	0.002299	1	0
SLC5A4	6527	broad.mit.edu	37	22	32650132	32650132	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr22:32650132C>A	ENST00000266086.4	-	2	215	c.204G>T	c.(202-204)tgG>tgT	p.W68C	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	68					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						CACTTACCGGCCACCAGGCCA	0.522000													12	46					7.93312e-07	1.01242e-06	0.002450	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													13	26					0	0	0.002450	0	0
CELSR3	1951	broad.mit.edu	37	3	48697796	48697796	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:48697796T>C	ENST00000544264.1	-	1	2552	c.2272A>G	c.(2272-2274)Atg>Gtg	p.M758V	CELSR3_ENST00000164024.4_Missense_Mutation_p.M758V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	758	Cadherin 5.				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)		TACTCCTTCATTGTGAACTCA	0.567000													19	47					0	0	0.007413	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873896	91873896	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:91873896C>A	ENST00000373094.1	+	7	4846	c.4001C>A	c.(4000-4002)cCg>cAg	p.P1334Q	PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1297Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1324Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1326Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1316Q|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1297Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1334					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P1334L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGGCCAGACCGTCCAGAGGT	0.378000													25	124					4.26978e-12	6.0545e-12	0.003330	1	0
NELFCD	51497	broad.mit.edu	37	20	57568155	57568155	+	Silent	SNP	G	G	A	rs141996345	byFrequency	TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr20:57568155G>A	ENST00000602795.1	+	11	1434	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Silent_p.A453A					negative elongation factor complex member C/D																		TCCACCTGGCGTTGCTGGATG	0.502000													12	51					0	0	0.001368	0	0
SCPEP1	59342	broad.mit.edu	37	17	55083594	55083594	+	Nonstop_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:55083594T>C	ENST00000262288.3	+	13	1412	c.1357T>C	c.(1357-1359)Tag>Cag	p.*453Q		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	0					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCAGCAAGAATAGGATGGATG	0.512000													22	85					0	0	0.002299	0	0
KIAA0368	23392	broad.mit.edu	37	9	114246668	114246668	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:114246668A>G	ENST00000259335.4	-	2	244	c.245T>C	c.(244-246)tTt>tCt	p.F82S		NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGACTCAGAAAAGTAGAGCCG	0.697000													6	13					0	0	0.004482	0	0
SLC5A4	6527	broad.mit.edu	37	22	32650133	32650133	+	Missense_Mutation	SNP	C	C	A	rs148427710		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr22:32650133C>A	ENST00000266086.4	-	2	214	c.203G>T	c.(202-204)tGg>tTg	p.W68L	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	68					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						ACTTACCGGCCACCAGGCCAT	0.527000													11	47					9.31168e-06	1.15534e-05	0.001855	1	0
TRANK1	9881	broad.mit.edu	37	3	36897333	36897333	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:36897333C>T	ENST00000429976.2	-	12	3995	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E700K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E700K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1250					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTCAGCCTCCTCTTCATCC	0.483000													23	82					0	0	0.002780	0	0
DSC3	1825	broad.mit.edu	37	18	28588372	28588372	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:28588372A>T	ENST00000434452.1	-	10	1537	c.1383T>A	c.(1381-1383)caT>caA	p.H461Q	DSC3_ENST00000360428.4_Missense_Mutation_p.H461Q	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	461	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GATCCCTCACATGAACTGTAA	0.473000													26	24					0	0	0.003330	0	0
TENM1	10178	broad.mit.edu	37	X	123516628	123516628	+	Silent	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:123516628T>C	ENST00000422452.2	-	31	7395	c.7332A>G	c.(7330-7332)caA>caG	p.Q2444Q	TENM1_ENST00000371130.3_Silent_p.Q2437Q|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CATTGTGTAATTGGAAACCAA	0.338000													33	150					0	0	0.006999	0	0
ZP4	57829	broad.mit.edu	37	1	238053218	238053218	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:238053218G>T	ENST00000366570.4	-	3	507	c.349C>A	c.(349-351)Cac>Aac	p.H117N	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	117					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCACCTTGTGTTCAGCCGCG	0.582000													169	100					7.29064e-110	1.26876e-109	0.003610	1	0
DPYSL4	10570	broad.mit.edu	37	10	134017425	134017425	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:134017425C>T	ENST00000338492.4	+	13	1785	c.1621C>T	c.(1621-1623)Cta>Tta	p.L541L	DPYSL4_ENST00000368627.1_Silent_p.L381L|DPYSL4_ENST00000368629.1_Silent_p.L381L	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	541					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGGGTTCAGCCTATCTGGTGA	0.692000													71	37					0	0	0.003610	0	0
CTNNA2	1496	broad.mit.edu	37	2	80773043	80773043	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:80773043C>A	ENST00000466387.1	+	15	2119	c.1395C>A	c.(1393-1395)gcC>gcA	p.A465A	CTNNA2_ENST00000541047.1_Silent_p.A465A|CTNNA2_ENST00000361291.4_Silent_p.A499A|CTNNA2_ENST00000402739.4_Silent_p.A465A|CTNNA2_ENST00000540488.1_Silent_p.A465A|CTNNA2_ENST00000343114.3_Silent_p.A144A|CTNNA2_ENST00000496558.1_Silent_p.A465A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	465					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCATCAATGCCGCTCTGACAC	0.498000													14	19					6.31663e-08	8.33919e-08	0.003163	1	0
MAGEH1	28986	broad.mit.edu	37	X	55478884	55478884	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:55478884A>G	ENST00000342972.1	+	1	347	c.77A>G	c.(76-78)cAg>cGg	p.Q26R		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	26	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CGCAAAATCCAGGCCTCAGAG	0.632000													7	13					0	0	0.003080	0	0
OR4N2	390429	broad.mit.edu	37	14	20295901	20295901	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:20295901C>A	ENST00000315947.1	+	1	294	c.294C>A	c.(292-294)atC>atA	p.I98I	OR4N2_ENST00000568211.1_Silent_p.I98I	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	98					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)		GAGGCTGCATCACTCAGCTCT	0.532000													111	61					4.58075e-42	7.81936e-42	0.003610	1	0
SPACA1	81833	broad.mit.edu	37	6	88757717	88757717	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:88757717G>A	ENST00000237201.1	+	1	211	c.94G>A	c.(94-96)Gtc>Atc	p.V32I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	32						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CGGGACCAACGTCACCGCTGC	0.701000													3	14					0	0	0.004672	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149083	103149083	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:103149083C>A	ENST00000295269.4	+	12	2790	c.2333C>A	c.(2332-2334)aCa>aAa	p.T778K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	778					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCGAGGTGGACAGCTGACCAT	0.498000													13	6					0.00185496	0.00208004	0.001855	1	0
ANKMY2	57037	broad.mit.edu	37	7	16666726	16666726	+	Silent	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:16666726G>A	ENST00000306999.2	-	3	453	c.210C>T	c.(208-210)gcC>gcT	p.A70A		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	70						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AATTTACATCGGCTCCATGTC	0.358000													7	20					0	0	0.008291	0	0
ZIC3	7547	broad.mit.edu	37	X	136649818	136649818	+	Missense_Mutation	SNP	C	C	T	rs122462165		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:136649818C>T	ENST00000287538.5	+	1	1518	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ZIC3_ENST00000370606.3_Missense_Mutation_p.T323M	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	323			T -> M (in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3).		cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGAGTGCACACGGGCGAGAAG	0.592000													13	146					0	0	0.001855	0	0
CFP	5199	broad.mit.edu	37	X	47487635	47487635	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:47487635G>A	ENST00000247153.3	-	4	510	c.269C>T	c.(268-270)tCg>tTg	p.S90L	CFP_ENST00000377005.2_Missense_Mutation_p.S90L|CFP_ENST00000480317.1_5'UTR|CFP_ENST00000396992.3_Missense_Mutation_p.S90L	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	90	TSP type-1 1.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCACGTCACCGAACAGGGGGC	0.627000													4	22					0	0	0.009096	0	0
LGALS4	3960	broad.mit.edu	37	19	39292738	39292738	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:39292738C>T	ENST00000307751.4	-	9	1196	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	240	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTTGCCCATGCGGGGATTAAT	0.567000													22	20					0	0	0.010504	0	0
ZNF676	163223	broad.mit.edu	37	19	22363718	22363718	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:22363718G>T	ENST00000397121.2	-	3	1118	c.801C>A	c.(799-801)acC>acA	p.T267T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGTATTAAGGGTTGAGACGC	0.388000													30	10					5.60225e-13	8.07206e-13	0.009535	1	0
CYP1A2	1544	broad.mit.edu	37	15	75045584	75045584	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:75045584T>C	ENST00000343932.4	+	6	1289	c.1226T>C	c.(1225-1227)gTa>gCa	p.V409A		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	409					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TGTGTCTTCGTAAACCAGTGG	0.522000													3	29					0	0	0.004672	0	0
SAGE1	55511	broad.mit.edu	37	X	134988265	134988265	+	Silent	SNP	C	C	G	rs151240146		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:134988265C>G	ENST00000535938.1	+	6	704	c.537C>G	c.(535-537)ccC>ccG	p.P179P	SAGE1_ENST00000370709.3_Silent_p.P179P|SAGE1_ENST00000324447.3_Silent_p.P179P|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	179										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CAACTGGTCCCACAGGGCTTA	0.433000													28	89					0	0	0.008361	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													3	61					0	0	0.004672	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232907	1232907	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:1232907T>C	ENST00000324642.3	+	3	466	c.343T>C	c.(343-345)Tac>Cac	p.Y115H	SLC6A18_ENST00000296821.4_Missense_Mutation_p.Y115H	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	115					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGCCTGTACTACAACACCAT	0.637000													23	43					0	0	0.001882	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	7					8.12818e-05	9.38945e-05	0.001984	1	0
PKN1	5585	broad.mit.edu	37	19	14569148	14569148	+	Silent	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:14569148G>C	ENST00000242783.6	+	9	1545	c.1380G>C	c.(1378-1380)gtG>gtC	p.V460V	PKN1_ENST00000342216.4_Silent_p.V466V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	460	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGCATGAGGTGCAGCTGGACA	0.572000													11	19					0	0	0.001368	0	0
DNAH17	8632	broad.mit.edu	37	17	76521120	76521120	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:76521120G>T	ENST00000389840.5	-	25	3947	c.3823C>A	c.(3823-3825)Ctg>Atg	p.L1275M	DNAH17_ENST00000585328.1_Missense_Mutation_p.L1276M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCTCCTTCAGTAGGCGGACC	0.667000													9	58					2.80697e-09	3.81862e-09	0.000978	1	0
TDRD10	126668	broad.mit.edu	37	1	154516441	154516441	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:154516441G>T	ENST00000368482.4	+	9	1344	c.506G>T	c.(505-507)gGg>gTg	p.G169V	TDRD10_ENST00000368480.3_Missense_Mutation_p.G169V|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	169							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCGCAGAGGGTCCTTCCTG	0.617000													106	194					1.06508e-68	1.84156e-68	0.003610	1	0
COL3A1	1281	broad.mit.edu	37	2	189855031	189855031	+	Splice_Site	SNP	A	A	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:189855031A>T	ENST00000304636.3	+	10	914		c.e10-1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						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)	CATTATTTTTAGGGTATCAAA	0.328000													4	6					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179474204	179474204	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:179474204G>T	ENST00000589042.1	-	273	52057	c.51833C>A	c.(51832-51834)aCt>aAt	p.T17278N	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T15637N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T8338N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T14710N|TTN_ENST00000342175.6_Missense_Mutation_p.T8405N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T8213N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15637	Fibronectin type-III 25.						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)			CCATGTAATAGTTGGGTAAGG	0.408000													27	36					3.01185e-09	4.07664e-09	0.003954	1	0
WWP1	11059	broad.mit.edu	37	8	87393038	87393038	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:87393038A>G	ENST00000517970.1	+	4	461	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E	WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.K52E|WWP1_ENST00000341922.2_Missense_Mutation_p.K52E|WWP1_ENST00000523863.1_3'UTR	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	52	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGAAATTACGAAAACAGCAAA	0.343000													5	30					0	0	0.001168	0	0
KLHL14	57565	broad.mit.edu	37	18	30349741	30349741	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr18:30349741G>T	ENST00000359358.4	-	2	1252	c.814C>A	c.(814-816)Ccg>Acg	p.P272T	KLHL14_ENST00000358095.4_Missense_Mutation_p.P272T	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	272	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACCAGCTCCGGGGCCGGGATG	0.637000													16	40					2.31682e-05	2.78434e-05	0.003163	1	0
OR8K1	390157	broad.mit.edu	37	11	56113597	56113597	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:56113597G>A	ENST00000279783.2	+	1	177	c.83G>A	c.(82-84)gGg>gAg	p.G28E		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GACAACCCTGGGCTGCAGGCT	0.458000										HNSCC(65;0.19)			6	26					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237774190	237774190	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:237774190G>T	ENST00000366574.2	+	36	5129	c.4812G>T	c.(4810-4812)ttG>ttT	p.L1604F	RYR2_ENST00000542537.1_Missense_Mutation_p.L1588F|RYR2_ENST00000360064.6_Missense_Mutation_p.L1602F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1604	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)			ACCAGTTTTTGAAGGTAGATG	0.537000													6	20					3.59834e-05	4.30515e-05	0.001168	1	0
NEB	4703	broad.mit.edu	37	2	152548676	152548676	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:152548676C>G	ENST00000427231.2	-	22	2205	c.2003G>C	c.(2002-2004)aGa>aCa	p.R668T	NEB_ENST00000397345.3_Missense_Mutation_p.R668T|NEB_ENST00000603639.1_Missense_Mutation_p.R668T|NEB_ENST00000604864.1_Missense_Mutation_p.R668T|NEB_ENST00000409198.1_Missense_Mutation_p.R668T|NEB_ENST00000172853.10_Missense_Mutation_p.R668T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	668					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)		GTCTTTATATCTAGCCTGAAA	0.388000													33	48					0	0	0.002445	0	0
TPP1	1200	broad.mit.edu	37	11	6640117	6640117	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:6640117C>G	ENST00000299427.6	-	3	179	c.119G>C	c.(118-120)cGt>cCt	p.R40P	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000528657.1_3'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	40					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AGGGTCCGCACGGCCCAGGGA	0.587000													32	31					0	0	0.002836	0	0
VGLL2	245806	broad.mit.edu	37	6	117586942	117586942	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr6:117586942G>A	ENST00000326274.5	+	1	206	c.16G>A	c.(16-18)Gtt>Att	p.V6I	VGLL2_ENST00000352536.3_Missense_Mutation_p.V6I	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	6					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CTGTCTGGATGTTATGTACCA	0.577000													25	8					0	0	0.004656	0	0
GIF	2694	broad.mit.edu	37	11	59603316	59603316	+	Silent	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:59603316G>T	ENST00000541311.1	-	7	1197	c.963C>A	c.(961-963)gtC>gtA	p.V321V	GIF_ENST00000257248.2_Silent_p.V346V			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	346					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTTCCTCTAGGACAACAAGTA	0.413000													41	54					3.05275e-18	4.72911e-18	0.003214	1	0
PKN1	5585	broad.mit.edu	37	19	14569149	14569149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:14569149C>T	ENST00000242783.6	+	9	1546	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	PKN1_ENST00000342216.4_Nonsense_Mutation_p.Q467*	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	461	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCATGAGGTGCAGCTGGACAT	0.567000													11	20					0	0	0.001368	0	0
BNC2	54796	broad.mit.edu	37	9	16419339	16419339	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:16419339C>A	ENST00000380672.4	-	7	3005	c.2948G>T	c.(2947-2949)gGc>gTc	p.G983V	BNC2_ENST00000380667.2_Missense_Mutation_p.G916V|BNC2_ENST00000545497.1_Missense_Mutation_p.G888V	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTCATCGCTGCCTGCGTCGGA	0.617000													15	22					1.49906e-05	1.81786e-05	0.002450	1	0
TRO	7216	broad.mit.edu	37	X	54956321	54956321	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:54956321C>A	ENST00000173898.7	+	12	3276	c.3164C>A	c.(3163-3165)aCc>aAc	p.T1055N	TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T586N|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.T658N	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1055	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCTCCCAGCACCAGTGCTGGC	0.562000													18	45					5.03518e-11	7.06507e-11	0.007413	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146997361	146997361	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:146997361G>T	ENST00000361727.3	+	9	1993	c.1477G>T	c.(1477-1479)Ggc>Tgc	p.G493C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	493	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGTTAAAACTGGCGAGAAGTA	0.378000										HNSCC(39;0.1)			20	34					2.4624e-09	3.36695e-09	0.008871	1	0
SFXN5	94097	broad.mit.edu	37	2	73268002	73268002	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:73268002G>A	ENST00000272433.2	-	3	360	c.230C>T	c.(229-231)cCg>cTg	p.P77L	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Missense_Mutation_p.P77L	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	77					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GGTGACCCCCGGGCGCAGGGT	0.557000													4	31					0	0	0.000602	0	0
FAM83A	84985	broad.mit.edu	37	8	124195334	124195334	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:124195334T>A	ENST00000518448.1	+	2	2252	c.238T>A	c.(238-240)Tgt>Agt	p.C80S	FAM83A_ENST00000276699.6_Missense_Mutation_p.C80S|FAM83A_ENST00000522648.1_Missense_Mutation_p.C80S|FAM83A_ENST00000546351.1_Missense_Mutation_p.C80S|FAM83A_ENST00000536633.1_Missense_Mutation_p.C80S|FAM83A_ENST00000318462.6_Missense_Mutation_p.C80S			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	80										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGAGCCCCCGTGTCCCCCAGA	0.662000													41	40					0	0	0.008740	0	0
CERCAM	51148	broad.mit.edu	37	9	131193497	131193497	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:131193497C>T	ENST00000372842.1	+	10	4028	c.884C>T	c.(883-885)cCg>cTg	p.P295L	CERCAM_ENST00000372838.4_Missense_Mutation_p.P373L			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	373					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		p.P295Q(1)|p.P373Q(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GACCTGCTCCCGGGCTACCAG	0.642000													28	116					0	0	0.007291	0	0
SERGEF	26297	broad.mit.edu	37	11	17981157	17981157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:17981157G>A	ENST00000265965.5	-	9	1022	c.871C>T	c.(871-873)Cga>Tga	p.R291*	SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	291					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TAGTCTGCTCGGCCCCAGGTA	0.428000													5	30					0	0	0.001168	0	0
WDR78	79819	broad.mit.edu	37	1	67327898	67327898	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:67327898G>A	ENST00000371026.3	-	7	1083	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	WDR78_ENST00000431318.1_Missense_Mutation_p.S89L|WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.S343L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	343										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTACTACTTGACTCAACCAC	0.338000													7	72					0	0	0.003080	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500655	142500655	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:142500655C>T	ENST00000378004.3	+	18	1996	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	ARHGAP26_ENST00000274498.4_Silent_p.I547I	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	547	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGCAGCCATCATGGACATCA	0.433000													41	85					0	0	0.006999	0	0
PA2G4	5036	broad.mit.edu	37	12	56498499	56498499	+	Translation_Start_Site	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:56498499G>A	ENST00000303305.6	+	0	397				RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_De_novo_Start_OutOfFrame|RP11-603J24.9_ENST00000548861.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa						cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GGGAAACGAGGCTGCAGTGGT	0.627000													17	72					0	0	0.002299	0	0
KIAA1109	84162	broad.mit.edu	37	4	123264593	123264593	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:123264593C>T	ENST00000264501.4	+	73	12754	c.12381C>T	c.(12379-12381)ggC>ggT	p.G4127G	KIAA1109_ENST00000388738.3_Silent_p.G4127G			Q2LD37	K1109_HUMAN	KIAA1109	4127	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCCTCTTGGCCGAAGTCGAC	0.433000													10	28					0	0	0.001855	0	0
RAD50	10111	broad.mit.edu	37	5	131895051	131895051	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:131895051G>T	ENST00000265335.6	+	2	592	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	69					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	p.D69Y(1)|p.D69N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTACACGATCCCAAGGT	0.284000								Homologous recombination					21	8					3.7963e-18	5.84718e-18	0.003330	1	0
KIF5A	3798	broad.mit.edu	37	12	57969439	57969439	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:57969439G>T	ENST00000455537.2	+	17	2196	c.1922G>T	c.(1921-1923)cGc>cTc	p.R641L	KIF5A_ENST00000286452.5_Missense_Mutation_p.R552L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	641					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCCAAGATCCGCTCGCTTACG	0.557000													25	141					1.36565e-18	2.12787e-18	0.002780	1	0
AFAP1	60312	broad.mit.edu	37	4	7802188	7802188	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:7802188T>A	ENST00000420658.1	-	10	1519	c.1247A>T	c.(1246-1248)cAg>cTg	p.Q416L	AFAP1_ENST00000382543.3_Missense_Mutation_p.Q416L|AFAP1_ENST00000358461.2_Missense_Mutation_p.Q416L|AFAP1_ENST00000360265.4_Missense_Mutation_p.Q416L	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	416	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TGCAACCTCCTGGCCGTTGCG	0.547000													4	17					0	0	0.000602	0	0
ZC3H3	23144	broad.mit.edu	37	8	144557696	144557696	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:144557696C>T	ENST00000262577.5	-	5	1806	c.1775G>A	c.(1774-1776)gGc>gAc	p.G592D		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	592					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCAAGGGGAGCCCGGTTGGGC	0.632000													7	43					0	0	0.003080	0	0
KRT79	338785	broad.mit.edu	37	12	53216924	53216924	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:53216924G>T	ENST00000330553.5	-	7	1277	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	415	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGGTGCAGGGCCACATCC	0.612000													30	36					1.7881e-09	2.47016e-09	0.008361	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135829707	135829707	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:135829707C>A	ENST00000370622.1	-	0	259				ARHGEF6_ENST00000370620.1_De_novo_Start_OutOfFrame|ARHGEF6_ENST00000250617.6_Missense_Mutation_p.K98N|ARHGEF6_ENST00000535227.1_De_novo_Start_OutOfFrame			Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6						apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TACTCAGTACCTTGGAGAAAT	0.378000													10	47					3.86212e-05	4.55968e-05	0.008291	1	0
FAM47B	170062	broad.mit.edu	37	X	34961693	34961693	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:34961693G>A	ENST00000329357.5	+	1	781	c.745G>A	c.(745-747)Gtg>Atg	p.V249M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	249	Pro-rich.							p.V249M(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATCTCCGCGTGGATCCTCC	0.627000													19	80					0	0	0.001882	0	0
GRM7	2917	broad.mit.edu	37	3	7721841	7721841	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:7721841G>C	ENST00000486284.1	+	9	2831	c.2557G>C	c.(2557-2559)Gaa>Caa	p.E853Q	GRM7_ENST00000357716.4_Missense_Mutation_p.E853Q|GRM7_ENST00000389336.4_Missense_Mutation_p.E853Q|GRM7_ENST00000402647.2_Missense_Mutation_p.E853Q|GRM7_ENST00000403881.1_Missense_Mutation_p.E853Q	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	853					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)	TTTCCACCCTGAACTCAATGT	0.502000													41	23					0	0	0.002852	0	0
KLC1	3831	broad.mit.edu	37	14	104129247	104129247	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:104129247C>T	ENST00000389744.4	+	5	1049	c.780C>T	c.(778-780)atC>atT	p.I260I	KLC1_ENST00000554280.1_Silent_p.I260I|KLC1_ENST00000348520.6_Silent_p.I260I|KLC1_ENST00000445352.4_Silent_p.I260I|KLC1_ENST00000347839.6_Silent_p.I260I|KLC1_ENST00000380038.3_Silent_p.I260I|KLC1_ENST00000452929.2_Silent_p.I260I|KLC1_ENST00000555836.1_Silent_p.I260I|KLC1_ENST00000334553.6_Silent_p.I260I|KLC1_ENST00000246489.7_Silent_p.I260I|KLC1_ENST00000557575.1_Silent_p.I260I|KLC1_ENST00000553286.1_Silent_p.I260I|KLC1_ENST00000557450.1_Silent_p.I260I|RP11-73M18.2_ENST00000472726.2_Silent_p.I432I			Q07866	KLC1_HUMAN	kinesin light chain 1	260					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TGCTCAACATCCTGGCCTTGG	0.493000													5	30					0	0	0.000602	0	0
FAM13C	220965	broad.mit.edu	37	10	61112030	61112030	+	Splice_Site	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:61112030C>A	ENST00000373867.3	-	4	540	c.75_splice	c.e4+1	p.Q25_splice	FAM13C_ENST00000435852.2_Splice_Site_p.Q108_splice|FAM13C_ENST00000442566.3_Splice_Site_p.Q108_splice|FAM13C_ENST00000422313.2_Splice_Site_p.Q108_splice|FAM13C_ENST00000373868.2_Splice_Site_p.Q108_splice|FAM13C_ENST00000419214.2_Splice_Site_p.Q108_splice|FAM13C_ENST00000468840.2_Splice_Site_p.Q25_splice|FAM13C_ENST00000277705.6_Splice_Site_p.Q108_splice	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	108										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						GAGCTGCTACCTGACTTTCTC	0.562000													48	24					8.00217e-19	1.25414e-18	0.003610	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95726812	95726812	+	Silent	SNP	T	T	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:95726812T>C	ENST00000324972.6	+	17	2038	c.1845T>C	c.(1843-1845)aaT>aaC	p.N615N	DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000359388.4_Silent_p.N578N|DYNC1I1_ENST00000437599.1_Silent_p.N595N|DYNC1I1_ENST00000457059.1_Silent_p.N598N|DYNC1I1_ENST00000447467.2_Silent_p.N598N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	615					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTCCCCACAATGATGAATGGA	0.453000													36	33					0	0	0.008740	0	0
RBM48	84060	broad.mit.edu	37	7	92158138	92158138	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:92158138G>T	ENST00000481551.1	+	1	52	c.11G>T	c.(10-12)aGc>aTc	p.S4I	RBM48_ENST00000265732.5_Missense_Mutation_p.S4I			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	4							nucleotide binding										ATGGCGTCGAGCGGCGGGGAG	0.562000													8	20					5.18039e-06	6.51805e-06	0.003080	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332640	100332640	+	RNA	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:100332640G>A	ENST00000341853.1	-	0	1551					NR_003260.1																						GCGGCAACTGGAGGAGGACAT	0.632000													33	128					0	0	0.004289	0	0
CINP	51550	broad.mit.edu	37	14	102822165	102822165	+	Silent	SNP	C	C	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr14:102822165C>A	ENST00000216756.6	-	3	286	c.246G>T	c.(244-246)ctG>ctT	p.L82L	CINP_ENST00000536961.2_Silent_p.L97L|CINP_ENST00000541568.2_Silent_p.L82L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	82					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						CGTTATATTCCAGACACACCT	0.438000													58	39					1.87854e-15	2.81257e-15	0.003610	1	0
ASH2L	9070	broad.mit.edu	37	8	37978623	37978623	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:37978623G>T	ENST00000343823.6	+	10	1430	c.1121G>T	c.(1120-1122)aGa>aTa	p.R374I	ASH2L_ENST00000545394.1_Missense_Mutation_p.R235I|ASH2L_ENST00000250635.7_Missense_Mutation_p.R280I|ASH2L_ENST00000521652.1_Missense_Mutation_p.R280I|ASH2L_ENST00000428278.2_Missense_Mutation_p.R280I	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	374	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GACCTCTACAGAGCCTGCTTG	0.483000											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	40					1.47244e-24	2.39161e-24	0.006230	1	0
NELL1	4745	broad.mit.edu	37	11	21555938	21555938	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr11:21555938A>C	ENST00000298925.5	+	17	1901	c.1748A>C	c.(1747-1749)gAg>gCg	p.E583A	NELL1_ENST00000532434.1_Intron|NELL1_ENST00000325319.5_Missense_Mutation_p.E498A|NELL1_ENST00000357134.5_Missense_Mutation_p.E555A|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	555	EGF-like 5; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAATGTTCAGAGGGAATCATT	0.458000													13	45					0	0	0.002450	0	0
ADAM19	8728	broad.mit.edu	37	5	156997967	156997967	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr5:156997967G>T	ENST00000257527.4	-	2	194	c.116C>A	c.(115-117)cCc>cAc	p.P39H	ADAM19_ENST00000394020.1_Missense_Mutation_p.P41H|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.P39H	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	39					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)			CTGCAGCTTGGGGCTGCCTTC	0.488000													45	41					2.51966e-14	3.71027e-14	0.003610	1	0
LRP1B	53353	broad.mit.edu	37	2	140992400	140992400	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr2:140992400C>T	ENST00000389484.3	-	90	14585	c.13614G>A	c.(13612-13614)ccG>ccA	p.P4538P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4538					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4538P(1)		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)		ggtagatgggcggcgctgtgt	0.418000										TSP Lung(27;0.18)			14	39					0	0	0.004990	0	0
UVSSA	57654	broad.mit.edu	37	4	1346874	1346874	+	Silent	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr4:1346874C>T	ENST00000389851.4	+	5	1054	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	UVSSA_ENST00000511216.1_Silent_p.L203L|UVSSA_ENST00000507531.1_Silent_p.L203L	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	203																	CTTTAGGCTGCTGGTGCCTTT	0.567000													20	35					0	0	0.007413	0	0
PAPPA	5069	broad.mit.edu	37	9	119065114	119065114	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr9:119065114G>A	ENST00000328252.3	+	10	3401	c.3032G>A	c.(3031-3033)tGt>tAt	p.C1011Y	PAPPA_ENST00000534838.1_Missense_Mutation_p.C49Y|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1011					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTAAGGACTGTGGTGTCTAC	0.488000													4	24					0	0	0.009096	0	0
SLC39A12	221074	broad.mit.edu	37	10	18292274	18292274	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr10:18292274C>T	ENST00000377369.2	+	12	2207	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S511F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S644F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S608F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	645					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTATATTTATCCTTGGTTGAA	0.368000													30	64					0	0	0.008361	0	0
GTF2E1	2960	broad.mit.edu	37	3	120500000	120500000	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr3:120500000G>C	ENST00000283875.5	+	5	1096	c.1003G>C	c.(1003-1005)Gcc>Ccc	p.A335P		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	335					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GACTTCCTCTGCCATGGCTGG	0.557000													8	24					0	0	0.003080	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													7	62	---	---	---	---					
XRCC2	7516	broad.mit.edu	37	7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)tgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination					7	51	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455991	110455991	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr8:110455991delA	ENST00000378402.5	+	37	4755	c.4651delA	c.(4651-4653)aafs	p.K1551fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1551					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCAGGGTTAAAAATTCAAA	0.408										HNSCC(38;0.096)			11	47	---	---	---	---					
SLC6A15	55117	broad.mit.edu	37	12	85257375	85257375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr12:85257375delA	ENST00000266682.5	-	11	2202	c.1661delT	c.(1660-1662)agfs	p.M554fs	SLC6A15_ENST00000552192.1_Frame_Shift_Del_p.M447fs|SLC6A15_ENST00000309283.7_Frame_Shift_Del_p.M262fs	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	554					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TAGGTCTTCCATAAACCTGAA	0.289													7	37	---	---	---	---					
SYNM	23336	broad.mit.edu	37	15	99672890	99672890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr15:99672890delC	ENST00000336292.6	+	5	4442	c.4322delC	c.(4321-4323)gafs	p.A1441fs	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1442	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGCAAGTTAGCAGACAGCAGC	0.532													124	151	---	---	---	---					
SMG1P5	595101	broad.mit.edu	37	16	30346498	30346498	+	RNA	DEL	G	G	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr16:30346498delG	ENST00000411546.3	-	0	197					NR_002453.4																						ggcggagggcgggggaagagg	0.756													2	4	---	---	---	---					
FASN	2194	broad.mit.edu	37	17	80037035	80037035	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr17:80037035delC	ENST00000306749.2	-	43	7738	c.7520delG	c.(7519-7521)acfs	p.S2507fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2507	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTCCCGCACGCTCACGCGTGG	0.692													8	40	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877716	52877717	+	Frame_Shift_Ins	INS	-	-	T	rs77187934		TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr19:52877716_52877717insT	ENST00000597976.1	+	3	324_325	c.304_305insT	c.(304-306)tttfs	p.F102fs	ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGGCCCCATAAttttttttttt	0.475													3	5	---	---	---	---					
XKR7	343702	broad.mit.edu	37	20	30584492	30584492	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chr20:30584492delC	ENST00000217299.3	+	3	1146	c.972delC	c.(970-972)tafs	p.Y324fs		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	324						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCGTCTACAAGCTCTATT	0.617													12	39	---	---	---	---					
SLC35A2	7355	broad.mit.edu	37	X	48768836	48768836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:48768836delC	ENST00000376521.1	-	1	399	c.78delG	c.(76-78)ggfs	p.G26fs	SLC35A2_ENST00000376512.1_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000247138.5_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000376529.3_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000445167.2_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.G26fs	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	26					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CACTGGCGGTCCCCGGCTCCA	0.692													2	4	---	---	---	---					
PLXNB3	5365	broad.mit.edu	37	X	153040429	153040429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7161-01A-11D-2036-08	TCGA-78-7161-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d917fa9-30cf-439f-817b-24cf49c459f7	944503e4-29da-42c7-addd-fc2218391c88	g.chrX:153040429delC	ENST00000538966.1	+	25	4366	c.4095delC	c.(4093-4095)ttfs	p.F1365fs	PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.F995fs|PLXNB3_ENST00000538282.1_Frame_Shift_Del_p.P977fs|PLXNB3_ENST00000361971.5_Frame_Shift_Del_p.F1342fs	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1342					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCTTCTTCCCTGGCCATG	0.692													19	54	---	---	---	---					
