Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PCSK5	5125	broad.mit.edu	37	9	78925636	78925636	+	Silent	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr9:78925636G>A	uc004akc.2	+	28	4210	c.3672G>A	c.(3670-3672)agG>agA	p.R1224R		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	870					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTTCCGTAAGGAGTGGGAGCT	0.557000														15			4		0	0	0.00024832	0	0
GRTP1	79774	broad.mit.edu	37	13	114009759	114009759	+	Silent	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr13:114009759G>A	uc010tkc.2	-	2	316	c.219C>T	c.(217-219)caC>caT	p.H73H	GRTP1_uc001vtn.3_Silent_p.H73H|GRTP1_uc010tkb.2_5'UTR|GRTP1_uc010agv.1_Non-coding_Transcript	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	73	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CGCGGGCACGGTGCTCCAGCG	0.667000														34			4		0	0	0.00024832	0	0
ANK3	288	broad.mit.edu	37	10	61836092	61836092	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr10:61836092G>A	uc001jky.3	-	36	4885	c.4547C>T	c.(4546-4548)cCa>cTa	p.P1516L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_Splice_Site	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1516					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGACTTGGCTGGCCCAGGCAC	0.473000														25			6		0	0	8.12818e-05	0	0
KRT5	3852	broad.mit.edu	37	12	52914008	52914008	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr12:52914008G>A	uc001san.3	-	0	236	c.73C>T	c.(73-75)Ccg>Tcg	p.P25S	KRT5_uc009zmh.3_Missense_Mutation_p.P25S	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	25	Head.		P -> L (in MP-EBS; dbSNP:rs57499817).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGACAGACGGGGTGATGGCA	0.657000														16			5		0	0	1.23904e-05	0	0
KBTBD5	131377	broad.mit.edu	37	3	42728022	42728022	+	Silent	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr3:42728022G>A	uc003clv.1	+	0	1012	c.912G>A	c.(910-912)ggG>ggA	p.G304G		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	304										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCCTTCCTGGGATCCTCAATG	0.567000														69			15		0	0	0.000308642	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984915	140984915	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chrX:140984915T>G	uc011mwp.2	+	6	1371	c.1371T>G	c.(1369-1371)gaT>gaG	p.D457E	MAGEC3_uc004fbs.3_Missense_Mutation_p.D159E|MAGEC3_uc010nsj.3_Missense_Mutation_p.D159E|MAGEC3_uc022cfh.1_Missense_Mutation_p.D159E	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	457	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCTGGATGAAAAGGTGG	0.483000														26			8		0	0	0.000274275	0	0
PDIA2	64714	broad.mit.edu	37	16	336416	336416	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr16:336416G>A	uc002cgn.1	+	12	2291	c.1183G>A	c.(1183-1185)Ggc>Agc	p.G395S	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.G395S|PDIA2_uc010bqt.1_Missense_Mutation_p.G240S	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	395	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GACCCTCGTGGGCAAGAATTT	0.577000														36			5		0	0	1.23904e-05	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273405	145273406	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr1:145273405_145273406CG>AT	uc001emn.4	+	2	629_630	c.259_260CG>AT	c.(259-261)cgg>ATg	p.R87M	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.R87M|NOTCH2NL_uc001emo.2_Missense_Mutation_p.R87M|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	87	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.R87L(3)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TATGCTCAGCCGGGATACCTAT	0.495000														695			12		0	0	6.4e-05	0	0
HMGCR	3156	broad.mit.edu	37	5	74645866	74645867	+	Splice_Site	DNP	GG	TT	TT			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr5:74645866_74645867GG>TT	uc011cst.2	+	7	869	c.617_splice	c.e7-1	p.G206_splice	HMGCR_uc003kdp.3_Splice_Site_p.G186_splice|HMGCR_uc003kdq.3_Splice_Site_p.G186_splice|HMGCR_uc010izn.1_Splice_Site_p.G26_splice	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	186					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCTCTAACCAGGGGTACGTCAG	0.391000														405			11		0	0	6.4e-05	0	0
RSPO1	284654	broad.mit.edu	37	1	38082349	38082349	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr1:38082349T>C	uc001cbl.2	-	5	987	c.95_splice	c.e5-1	p.I32_splice	RSPO1_uc009vvf.2_Splice_Site_p.V5_splice|RSPO1_uc001cbm.2_Splice_Site_p.I32_splice|RSPO1_uc009vvg.2_Splice_Site_p.I32_splice	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	32					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCACTGACTGCAAAGGTGG	0.557000														62			4		0	0	0.00024832	0	0
LPAR4	2846	broad.mit.edu	37	X	78010399	78010399	+	Silent	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chrX:78010399C>T	uc022bzj.1	+	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F	LPAR4_uc010nme.3_Silent_p.F11F	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	11						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACTTCCAATTCCAAGATTCAA	0.453000														27			15		0	0	0.000308642	0	0
PI15	51050	broad.mit.edu	37	8	75756325	75756325	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr8:75756325G>A	uc003yal.3	+	2	562	c.383G>A	c.(382-384)cGc>cAc	p.R128H	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.R128H	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	128						extracellular region	peptidase inhibitor activity	p.R128H(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTATCTGTACGCACTGGAAGG	0.408000														113			18		0	0	9.7654e-05	0	0
SENP2	59343	broad.mit.edu	37	3	185318642	185318643	+	Splice_Site	DNP	GG	TT	TT			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr3:185318642_185318643GG>TT	uc003fpn.3	+	5	620	c.449_splice	c.e5+1	p.G150_splice	SENP2_uc011brv.2_Splice_Site_p.G140_splice|SENP2_uc011brw.2_Splice_Site	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	150					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCCTTCCTTTGGGTAAGTGTTA	0.381000														299			9		0	0	6.4e-05	0	0
C12orf10	60314	broad.mit.edu	37	12	53696978	53696978	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr12:53696978G>A	uc001scp.4	+	3	541	c.489_splice	c.e3+1	p.K163_splice	C12orf10_uc010sof.1_Missense_Mutation_p.V164M|C12orf10_uc009zmx.3_Splice_Site_p.K163_splice|C12orf10_uc001scq.4_Splice_Site_p.K48_splice	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	Homo sapiens chromosome 12 open reading frame 10 (C12orf10), mRNA.	163										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						CTATGACAAGGTGGGGACCTG	0.612000														25			5		0	0	3.59834e-05	0	0
ERC2	26059	broad.mit.edu	37	3	56207504	56207504	+	Silent	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr3:56207504C>T	uc021wzo.1	-	2	1259	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	ERC2_uc003dhr.1_Silent_p.T373T	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	373						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGAGAGCCTTCGTCTTGGCTG	0.488000														38			6		0	0	8.12818e-05	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52779501	52779501	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr4:52779501C>A	uc011bzo.2	+	9	905	c.898C>A	c.(898-900)Cta>Ata	p.L300I	DCUN1D4_uc003gze.3_Missense_Mutation_p.L256I|DCUN1D4_uc003gzf.3_Missense_Mutation_p.L221I|DCUN1D4_uc011bzn.2_Missense_Mutation_p.L196I|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	256										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GTGCAATGTCCTAGAGTTTAG	0.368000														27			5		3.59834e-05	0.00196375	3.59834e-05	1	0
RBM6	10180	broad.mit.edu	37	3	50005048	50005048	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr3:50005048C>T	uc003cyc.3	+	2	438	c.190C>T	c.(190-192)Cct>Tct	p.P64S	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	64					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTCGGGGCCTCCTTTTGCAAA	0.527000														81			6		0	0	8.12818e-05	0	0
FAM116A	201627	broad.mit.edu	37	3	57651848	57651848	+	Splice_Site	SNP	A	G	G			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr3:57651848A>G	uc003dja.3	-	4	503	c.432_splice	c.e4+1	p.K144_splice		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	144										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TACTTTTCCAACCTTTAAGTA	0.378000														54			9		0	0	0.000274275	0	0
OSMR	9180	broad.mit.edu	37	5	38881844	38881844	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr5:38881844G>A	uc003jln.2	+	3	798	c.396G>A	c.(394-396)tgG>tgA	p.W132*	OSMR_uc003jlm.2_Nonsense_Mutation_p.W132*	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	132					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGAGCAACTGGAGTTCCTGGG	0.423000														74			12		0	0	0.000422831	0	0
CLASRP	11129	broad.mit.edu	37	19	45570681	45570681	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr19:45570681C>T	uc002pak.3	+	13	1594	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.S437F|CLASRP_uc002pam.3_Missense_Mutation_p.S499F	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	499	Arg-rich.|Ser-rich.				RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AGCAGCTGGTCCCTCAGCCCG	0.746000														40			10		0	0	3.86212e-05	0	0
EMR3	84658	broad.mit.edu	37	19	14748943	14748943	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr19:14748943C>T	uc002mzi.4	-	10	1606	c.1458G>A	c.(1456-1458)tgG>tgA	p.W486*	EMR3_uc010dzp.3_Nonsense_Mutation_p.W434*|EMR3_uc010xnv.2_Nonsense_Mutation_p.W360*	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	486					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AAAGGTGAGGCCAGGAGGCTG	0.498000														78			14		0	0	0.000308642	0	0
C1orf116	79098	broad.mit.edu	37	1	207195703	207195703	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr1:207195703C>T	uc001hfd.2	-	3	1665	c.1406G>A	c.(1405-1407)aGc>aAc	p.S469N	C1orf116_uc009xcb.1_Missense_Mutation_p.S223N|C1orf116_uc021pii.1_Missense_Mutation_p.S223N	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	469						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGGGGTGTTGCTCTCCTGGAG	0.552000														33			4		0	0	3.59834e-05	0	0
NLRP9	338321	broad.mit.edu	37	19	56243679	56243679	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr19:56243679C>A	uc002qly.3	-	1	1546	c.1518G>T	c.(1516-1518)atG>atT	p.M506I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	506						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGGTCTCCAGCATGCTGACGA	0.443000														78			17		6.94344e-10	3.85245e-08	7.07596e-05	1	0
IL36A	27179	broad.mit.edu	37	2	113764230	113764230	+	Silent	SNP	G	A	A	rs148950825		TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:113764230G>A	uc010yxr.2	+	2	180	c.180G>A	c.(178-180)ggG>ggA	p.G60G		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	60					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.G60G(2)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AAGACAGAGGGAACCCCATCT	0.522000														130			38		0	0	0.000191422	0	0
MAP1A	4130	broad.mit.edu	37	15	43817052	43817052	+	Silent	SNP	A	G	G			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr15:43817052A>G	uc001zrt.3	+	3	3848	c.3381A>G	c.(3379-3381)caA>caG	p.Q1127Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1127						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTTTACCCCAAGAACCTGGCA	0.532000														38			16		0	0	0.000422831	0	0
LRP1B	53353	broad.mit.edu	37	2	141773459	141773459	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:141773459C>T	uc002tvj.1	-	12	2968	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	666					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTCATCTTCCTCCCAGTCT	0.413000										TSP Lung(27;0.18)				60			12		0	0	0.000151284	0	0
POTEE	445582	broad.mit.edu	37	2	132021757	132021757	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:132021757G>A	uc002tsn.2	+	14	2781	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R510H|POTEE_uc002tsl.2_Missense_Mutation_p.R492H|POTEE_uc010fmy.1_Missense_Mutation_p.R374H	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	910	Actin-like.						ATP binding										GAAATCGTGCGTGACATCAAA	0.602000														146			9		0	0	0.000151284	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423245	107423245	+	Silent	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:107423245C>T	uc002tdq.3	-	5	1598	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	ST6GAL2_uc002tdr.3_Silent_p.Q493Q	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	493					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGTTCAGGCGCTGCACCAGGA	0.622000														65			9		0	0	6.40141e-05	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	A	A	rs12366766		TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		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)		agcagcagcagcaacaacagc	0.562000														38			6		0	0	0.000274275	0	0
SBNO1	55206	broad.mit.edu	37	12	123782672	123782672	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr12:123782672C>T	uc010tap.2	-	29	3892	c.3892G>A	c.(3892-3894)Ggt>Agt	p.G1298S	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.G1297S|SBNO1_uc010taq.2_Missense_Mutation_p.G249S	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1298							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAACGAAGACCTATTTCACAA	0.418000														50			10		0	0	3.86212e-05	0	0
CHD8	57680	broad.mit.edu	37	14	21870235	21870235	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr14:21870235T>A	uc001war.2	-	18	4008	c.3943A>T	c.(3943-3945)Atc>Ttc	p.I1315F	CHD8_uc001was.2_Missense_Mutation_p.I1036F|CHD8_uc001wav.1_Missense_Mutation_p.I478F	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1315					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCCTCCATGATGGCTGCATAT	0.378000														54			7		0	0	8.12818e-05	0	0
CASS4	57091	broad.mit.edu	37	20	55012445	55012445	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr20:55012445G>A	uc002xxp.2	+	2	487	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	CASS4_uc002xxq.4_Missense_Mutation_p.E88K|CASS4_uc010zze.1_Missense_Mutation_p.E88K|CASS4_uc002xxr.2_Missense_Mutation_p.E88K|CASS4_uc010gio.2_Missense_Mutation_p.E88K	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	88					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAGAGGCCTGGAAGAAGCTCC	0.637000														22			8		0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196851910	196851910	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:196851910C>T	uc002utj.4	-	13	1735	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	545	Stem (By similarity).		R -> C (in dbSNP:rs10931715).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTCCTAAACGAATAGTCTG	0.294000														35			8		0	0	0.000274275	0	0
TTC31	64427	broad.mit.edu	37	2	74719860	74719860	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:74719860C>T	uc002slt.2	+	11	1272	c.1249C>T	c.(1249-1251)Ctc>Ttc	p.L417F	TTC31_uc002slu.2_Missense_Mutation_p.L271F	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	417							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CTCTTGCCTTCTCCACCTCAC	0.592000														34			10		0	0	6.40141e-05	0	0
PLCB1	23236	broad.mit.edu	37	20	8698351	8698351	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr20:8698351G>A	uc002wnb.3	+	13	1372	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	PLCB1_uc010zrb.1_Missense_Mutation_p.D356N|PLCB1_uc002wna.3_Missense_Mutation_p.D457N|PLCB1_uc002wnc.1_Missense_Mutation_p.D356N|PLCB1_uc002wnd.1_Missense_Mutation_p.D34N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	457	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGCCCTATGGATTTAATGTA	0.403000														80			12		0	0	0.000308642	0	0
RGL3	57139	broad.mit.edu	37	19	11508131	11508131	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr19:11508131C>T	uc002mro.2	-	16	1971	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	RGL3_uc002mrn.2_Missense_Mutation_p.R394Q|RGL3_uc002mrm.2_Missense_Mutation_p.R394Q|RGL3_uc002mrp.2_Missense_Mutation_p.R630Q	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	630	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CAAGATGCTTCGATACAGGTT	0.677000														73			10		0	0	0.00010058	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706580	41706580	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr13:41706580T>C	uc001uxu.1	-	0	357	c.68A>G	c.(67-69)aAg>aGg	p.K23R	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	23							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GTGAATCTTCTTGGGCCGCTT	0.617000														109			27		0	0	0.000147802	0	0
EIF4A1	1973	broad.mit.edu	37	17	7480012	7480012	+	Splice_Site	SNP	T	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr17:7480012T>A	uc002gho.2	+	16	3077	c.514_splice	c.e16+2	p.S172_splice	EIF4A1_uc002ghr.1_Splice_Site_p.S172_splice|SNORD10_uc002ght.3_5'Flank|SNORA67_uc010cml.1_5'Flank|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	172	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GATACCTGTGTGAGTAATTCG	0.522000														33			11		0	0	3.86212e-05	0	0
C14orf101	54916	broad.mit.edu	37	14	57075882	57075882	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr14:57075882C>T	uc001xcm.3	+	5	817	c.695C>T	c.(694-696)cCc>cTc	p.P232L	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.P232L|C14orf101_uc010aot.1_Missense_Mutation_p.P232L|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	232						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		GGTTTGCTGCCCTATGTCCAC	0.473000														302			16		0	0	0.000422831	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458492	120458493	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr1:120458492_120458493GG>TT	uc001eik.3	-	33	7149_7150	c.6852_6853CC>AA	c.(6850-6855)ccccag>ccAAag	p.Q2285K		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2285					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCTGCTCTGGGGAGCTATGC	0.564000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					396			10		0	0	6.4e-05	0	0
MBD5	55777	broad.mit.edu	37	2	149248079	149248079	+	Silent	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:149248079C>T	uc002twm.4	+	11	5176	c.4179C>T	c.(4177-4179)atC>atT	p.I1393I	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.I651I|MBD5_uc002twp.3_Silent_p.I443I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1393	PWWP.					chromosome|nucleus	DNA binding|chromatin 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)		GGGGCCAAATCAAAGGACTGA	0.448000														66			14		0	0	0.000219431	0	0
AMPD1	270	broad.mit.edu	37	1	115221134	115221134	+	Silent	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr1:115221134G>A	uc001efe.2	-	7	1059	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	AMPD1_uc001eff.2_Silent_p.I333I	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	304					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CGGCTGCATGGATATGGGTGT	0.398000														30			6		0	0	2.17888e-05	0	0
NEK5	341676	broad.mit.edu	37	13	52639739	52639739	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr13:52639739G>A	uc001vge.3	-	21	2071	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	644							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGTCTGCGTGGAAAACCCTGG	0.502000														36			9		0	0	2.17888e-05	0	0
NEB	4703	broad.mit.edu	37	2	152382515	152382516	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:152382515_152382516CG>AT	uc021vrb.1	-	120	17043_17044	c.17014_17015CG>AT	c.(17014-17016)cgg>ATg	p.R5672M	NEB_uc002txr.3_Missense_Mutation_p.R2138M|NEB_uc002txu.3_Missense_Mutation_p.R7373M|NEB_uc021vrc.1_Missense_Mutation_p.R7373M|NEB_uc010fnx.3_Missense_Mutation_p.R5660M|NEB_uc021vrd.1_Missense_Mutation_p.R5672M|NEB_uc002txt.4_Missense_Mutation_p.R177M	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5672					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.R5672R(2)|p.R5672Q(2)|p.R5672L(2)|p.R7373L(1)|p.R7373R(1)		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)		AACAGTGTCCCGGGTCTCTGGT	0.490000														269			8		0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13864596	13864596	+	Silent	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr5:13864596G>A	uc003jfd.2	-	27	4548	c.4506C>T	c.(4504-4506)ctC>ctT	p.L1502L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1502	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCCCGGTGAGGGTGGTTA	0.458000									Kartagener syndrome					44			7		0	0	0.000157383	0	0
CSMD2	114784	broad.mit.edu	37	1	34276407	34276407	+	Silent	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr1:34276407G>A	uc001bxm.1	-	9	1560	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	CSMD2_uc001bxn.1_Silent_p.F421F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	421	CUB 3.					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)				ACTGAATGGGGAAATTGGGGG	0.547000														71			25		0	0	0.000147802	0	0
KCNH5	27133	broad.mit.edu	37	14	63174914	63174914	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr14:63174914G>A	uc001xfx.3	-	10	2330	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	760					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGTCTGAATGGGAGTAATCTG	0.532000														37			5		0	0	1.23904e-05	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83290	83290	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chrGL000219.1:83290C>T	uc022brb.1	-	3	377	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		ATAAAGCAGCCATTTGAGGCC	0.363000														16			6		0	0	3.59834e-05	0	0
OR51M1	390059	broad.mit.edu	37	11	5410654	5410654	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr11:5410654C>T	uc010qzc.2	+	0	48	c.26C>T	c.(25-27)cCt>cTt	p.P9L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	9						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGCTCAGTCCTCAATTCATG	0.403000														133			7		0	0	0.000157383	0	0
SCLY	51540	broad.mit.edu	37	2	238940897	238940897	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:238940897T>C	uc002vxm.4	+	6	509	c.-166_splice	c.e6+2		UBE2F_uc002vxk.3_Splice_Site_p.T148_splice|UBE2F_uc010zno.2_Splice_Site|UBE2F_uc010znn.2_Splice_Site_p.T116_splice|UBE2F_uc010znp.2_Intron	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.						cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TTGTTTACTGTAAGTACAGTG	0.328000														19			4		0	0	3.59834e-05	0	0
C1orf116	79098	broad.mit.edu	37	1	207195689	207195689	+	Silent	SNP	G	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr1:207195689G>A	uc001hfd.2	-	3	1679	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	C1orf116_uc009xcb.1_Silent_p.L228L|C1orf116_uc021pii.1_Silent_p.L228L	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	474						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ATCTGTCTCAGGCCAGGGGTG	0.557000														32			5		0	0	3.59834e-05	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148695801	148695801	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr5:148695801C>T	uc003lqh.3	+	10	1333	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	AFAP1L1_uc010jgy.3_Missense_Mutation_p.S401F|AFAP1L1_uc003lqi.2_Missense_Mutation_p.S16F	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	401							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGCTTCTCCAAGAAGAAG	0.602000														71			9		0	0	0.000274275	0	0
SDPR	8436	broad.mit.edu	37	2	192701266	192701266	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr2:192701266C>T	uc002utb.3	-	1	1016	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	221						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCCACCTTTTCCTCGGCACTG	0.483000														89			14		0	0	0.000151284	0	0
PRDX1	5052	broad.mit.edu	37	1	45977053	45977054	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr1:45977053_45977054insT	uc001coc.3	-	5	862_863	c.547_548insA	c.(547-549)accfs	p.T183fs	PRDX1_uc001cob.3_Frame_Shift_Ins_p.T183fs|PRDX1_uc001coa.3_Frame_Shift_Ins_p.T183fs|PRDX1_uc021omw.1_Frame_Shift_Ins_p.T183fs	NM_181696	NP_859048	Q06830	PRDX1_HUMAN	Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA.	183					cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					AGGCTTGATGGTATCACTGCCA	0.495													---	196	---	---	32	---					
PABPC1	26986	broad.mit.edu	37	8	101721933	101721933	+	Frame_Shift_Del	DEL	T	-	-	rs112966887		TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr8:101721933delT	uc003yjs.1	-	7	1503	c.999delA	c.(997-999)aaafs	p.K333fs	PABPC1_uc011lhc.1_Frame_Shift_Del_p.K301fs|PABPC1_uc011lhd.1_Frame_Shift_Del_p.K288fs|PABPC1_uc003yjt.1_Frame_Shift_Del_p.K330fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	333	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AACCAAACCCTTTGCTGCGAC	0.383													---	74	---	---	9	---					
SMC2	10592	broad.mit.edu	37	9	106862421	106862422	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr9:106862421_106862422insA	uc004bbv.3	+	5	816_817	c.528_529insA	c.(526-531)tacaaafs	p.Y176fs	SMC2_uc004bbu.1_Frame_Shift_Ins_p.Y176fs|SMC2_uc004bbw.3_Frame_Shift_Ins_p.Y176fs|SMC2_uc011lvl.2_Frame_Shift_Ins_p.Y176fs|SMC2_uc010mtg.1_Frame_Shift_Ins_p.Y31fs|SMC2_uc010mth.1_Frame_Shift_Ins_p.Y126fs|SMC2_uc004bbx.3_Frame_Shift_Ins_p.Y176fs	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	176					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTATGAATACAAAAAAATAGC	0.317													---	87	---	---	9	---					
DGKZ	8525	broad.mit.edu	37	11	46387931	46387933	+	In_Frame_Del	DEL	CCT	-	-			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr11:46387931_46387933delCCT	uc001ncn.1	+	1	250_252	c.125_127delCCT	c.(124-129)gcctcc>gcc	p.S45del	DGKZ_uc001nch.2_Intron|DGKZ_uc010rgq.2_Intron|DGKZ_uc010rgr.2_Intron|DGKZ_uc001ncj.2_Intron|DGKZ_uc001nck.2_Intron|DGKZ_uc001ncm.2_Intron|DGKZ_uc001ncl.2_Intron|DGKZ_uc009yky.1_Intron|DGKZ_uc010rgs.1_Intron|DGKZ_uc001nci.2_Intron	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	45					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCTGGGCAGGCCTCCTCCTCACT	0.759													---	4	---	---	3	---					
SLC9A7P1	121456	broad.mit.edu	37	12	98850722	98850722	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr12:98850722delC	uc009ztm.2	-	0	202	c.13delG	c.(13-15)gtcfs	p.V5fs						Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1 (SLC9A7P1), non-coding RNA.																		TTCTCAGTGACGAGCTCCTCC	0.647													---	4	---	---	2	---					
TP53	7157	broad.mit.edu	37	17	7579399	7579399	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr17:7579399delA	uc002gim.2	-	3	482	c.288delT	c.(286-288)tctfs	p.S96fs	TP53_uc002gig.1_Frame_Shift_Del_p.S96fs|TP53_uc002gih.3_Frame_Shift_Del_p.S96fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Del_p.S96fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S96fs|TP53_uc002gij.2_Frame_Shift_Del_p.S96fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Frame_Shift_Del_p.S57fs|TP53_uc010cnk.1_Frame_Shift_Del_p.S111fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	96	Interaction with WWOX.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S96F(3)|p.S95F(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.S96fs*52(1)|p.S96fs*53(1)|p.S96P(1)|p.S96_V97insAAPAPAPSWPLSSS(1)|p.W91fs*13(1)|p.S96C(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGAAGGGACAGAAGATGACA	0.637		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	41	---	---	7	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Splice_Site	INS	-	C	C	rs148075904	by1000genomes	TCGA-FS-A1Z4-06A-11D-A197-08	TCGA-FS-A1Z4-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b80a0277-7426-44ec-871f-363e9db7af50	ea52816d-f4fd-4a43-b004-20dc0f4cb59d	g.chr17:26684390_26684391insC	uc002haz.3	-	2	209	c.79_splice	c.e2-1	p.P27_splice	POLDIP2_uc010wag.2_Non-coding_Transcript|TMEM199_uc002hba.3_5'Flank|TMEM199_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	27						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													---	8	---	---	9	---					
